Posterior microphthalmos pigmentary retinopathy syndrome
|
|
- Diana O’Brien’
- 5 years ago
- Views:
Transcription
1 DOI /s CLINICAL CASE REPORT Posterior microphthalmos pigmentary retinopathy syndrome Niranjan Pehere Subhadra Jalali Himanshu Deshmukh Chitra Kannabiran Received: 11 September 2010 / Accepted: 3 March 2011 Ó Springer-Verlag 2011 Abstract Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS). Posterior microphthalmos (PM) is a relatively infrequent type of microphthalmos where posterior segment is predominantly affected with normal anterior segment measurements. Herein, we report two siblings with posterior microphthalmos retinopathy syndrome with postulated autosomal recessive mode of inheritance. A 13-year-old child had PM and retinitis pigmentosa (RP) and his 7-year-old sister had PM, RP, and foveoschisis. The genetics of this syndrome and variable phenotype is discussed. Importance of being aware of posterior microphthalmos and its posterior segment associations is highlighted. N. Pehere S. Jalali Jasti V Ramanamma Children s Eye Care Center, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad, India S. Jalali (&) Smt Kanuri Santhamma Centre for Vitreo-Retinal Diseases, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad , India subhadra@lvpei.org H. Deshmukh Retina-Vitreous and Uvea, Drushti Foundation, Amravati, Maharashtra, India C. Kannabiran Kallam Anji Reddy Molecular Genetics Laboratory, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad, India Keywords Foveoschisis Microphthalmos Posterior microphthalmos Retinitis pigmentosa MFRP gene Introduction Microphthalmos is a condition where the axial length of eye is smaller by more than two standard deviations compared with normal for that age [1]. It is a heterogeneous group of conditions that can be classified depending on the presence of associated ocular malformations [1] or predominance of anterior or posterior segment involvement [2]. Posterior microphthalmos is a relatively infrequent type of microphthalmos where posterior segment is predominantly affected with normal anterior segment measurements [3]. A number of posterior segment pathologies have been reported in patients with posterior microphthalmos. These include an elevated papillomacular retinal fold, pigmentary retinopathy, chorioretinal folds, uveal effusion syndrome [4], and macular hole [5]. Majority of cases with posterior microphthalmos reported are sporadic. In those with familial occurrence, autosomal recessive mode of inheritance has been postulated as the commonest mode of transmission [3]. Herein, we report siblings from India with posterior microphthalmos pigmentary retinopathy syndrome (PMPRS) with postulated autosomal recessive mode of inheritance.
2 Case history Case 1 A 13-year-old boy presented with diminution of vision in both eyes since 10 years with predominant difficulty in night vision. The best corrected visual acuity (BCVA) in right eye was 20/200 (?7.00 DSphere) and 20/120 (?7.00 DSphere) in left eye. Anterior segment evaluation and intraocular pressure were normal. Vitreous showed pigmented cells in both eyes. Fundus revealed optic disc pallor with gliosis, midperipheral retinal pigment epithelium mottling changes, and punctate white foveal deposits (Fig. 1a, b). The patient s ocular biometry readings are as shown in Table 1. The axial length was mm in the right eye and mm in the left eye. OCT revealed reduced foveal thickness of 104l in OD and 87l in OS as compared with mean normal of 194 microns (Fig. 1c, d). The ERG showed extinguished wave characteristics (Fig. 1e). ERG was performed in all cases as per International Society for Electrophysiology of Vision standard, 2008, using the Metrovision Monitor (France) [6]. There was no clinically evident optic nerve head drusen in either eye. The patient was the offspring of a consanguineous marriage as depicted in Fig. 2. As seen in the pedigree chart, there is a tendency for consanguineous marriages in the family. Proband s sister, father, paternal aunt, and 2 other family members in father s generation also had a history of night blindness. Case 2 This 7-year-old elder sister of the proband had similar symptoms. Her BCVA was 20/160 with?8dsphere in both eyes. Fundus evaluation showed gliosis nasal Fig. 1 Clinical features of Proband: a Fundus picture of right eye; b Fundus picture of left eye. Both pictures show disc pallor, gliosis nasal to disc, midperipheral pigment mottling, and punctuate lesions at macula. c OCT line scan of right eye and d of left eye showing thinning of fovea. e Flash ERG showing extinguished wave characteristics
3 Table 1 Details of biometry readings of three siblings. Biometry measurements of affected and unaffected siblings Patient Eye Keratometry Horizontal corneal diameter (mm) Axial length (mm) Anterior chamber depth (mm) Lens thickness (mm) Case 1 (13 years) OD at 90, at OS at 90, at Case 2 (7 years) OD 43.0 at 90, 42.0 at OS 43.0 at 90, 42.0 at Case 3 (9 years) OD 44.5 at 90, 43.5 at OS 44.0 at 90, 43.5 at Fig. 2 Pedigree chart of the family (* indicates subjects examined) to disc, arteriolar attenuation, and midperipheral pigmentary mottling in both eyes (Fig. 3a, b). Axial length was mm in OD and mm in OS with biometry readings as mentioned in Table 1. The OCT showed foveoschisis in both eyes (Fig. 3c, d). Her ERG showed extinguished wave characteristics (Fig. 3e). Low vision services were organized for both affected siblings. Their 9-year-old brother was asymptomatic. His unaided VA was 20/20 in both eyes. On clinical examination, both eyes were normal with normal ERG and OCT. The biometry readings are as shown in Table 1. Normal ERG from our laboratory is depicted in Fig. 4. The father of these children (age 36 years) had only perception of light in both eyes. He had a history of night blindness since childhood with complete rapid loss of vision since 2 years. Clinical examination revealed complicated cataract with advanced angle closure glaucoma with IOP of 46 mmhg in OD and 54 mmhg in OS. B-scan in right eye showed retinal detachment with optic nerve head cupping in both eyes. His ocular dimensions were normal. He did not agree to undergo ERG due to logistics of travel and stay. The patient s mother was normal on detailed examination. The genetic analysis done by complete sequencing of all exons of the MFRP gene in the proband did not reveal any pathogenic changes. Sequence alterations found were two known SNPs. Discussion Posterior microphthalmos is diagnosed, as in our two cases (Table 1), in eyes with normal horizontal corneal diameter (11.00 mm or more) and normal anterior chamber depth but with axial length of less than 20.5 mm. This differentiates it from nanophthalmos where corneal diameter is small and anterior chamber is shallow. Various posterior segment manifestations of PM have been reported. These include an elevated papillomacular retinal fold, pigmentary retinopathy, chorioretinal folds, foveoschisis, and optic nerve head drusen. Recently, there have been two reports describing a new syndrome called
4 Fig. 3 Clinical manifestations of case 2. a Fundus picture of right eye and b left eye. Both pictures show disc pallor, gliosis nasal to disc, midperipheral pigment mottling, and punctuate lesions at macula. c OCT line scan of right eye and d of left eye. Both pictures show schisis cavities in neurosensory retina at fovea. e Flash ERG showing extinguished waveforms posterior microphthalmos pigmentary retinopathy syndrome (PMPRS) comprising of posterior microphthalmos, retinitis pigmentosa, optic nerve (ON) drusen, and foveoschisis [7, 8]. In our two cases, PM was associated with a typical RP like pigmentary retinopathy in both siblings associated with extinguished ERG and symptoms of night blindness. However, we did not find any clinical or autofluorescence evidence of ON drusen. Foveoschisis was present in one affected. It seems that the syndrome may have some constant features and some variable features: constant features might include PM and retinitis pigmentosa (RP) while ON drusen and foveoschisis may be the variable features. Phenotypic variability has been reported in a study of 4 families with posterior microphthalmos retinopathy syndrome arising due to MFRP gene mutations [9]. The authors noted a variable presence of optic nerve head drusen, serous retinal detachments, and foveal cysts. In both previous reports of PMPRS, mutations in membrane type frizzled-related protein (MFRP) gene (located at 11q23) was demonstrated to be present [7 9]. The role of MFRP as a gene controlling both axial length and retinal development is not understood although it is implicated in the Frizzled/Wnt signaling pathway. However, the genetic analysis of MFRP in our cases did not show any mutation. This may suggest role of other genes for this phenotype. The other possible genes involved in microphthalmos like orthodenticle homeobox 2 [OTX2], retina and anterior neural fold homeobox [RAX], SRY-box 2 [SOX2], CEH10 homeodomain-containing homolog [CHX10], and growth differentiation factor 6 [GDF6] may be involved [10]. It may be possible that any gene responsible for retinitis pigmentosa could also be involved. A comprehensive screening would be required to find the gene mutation.
5 Fig. 4 Figure showing a normal ERG tracing from our laboratory Zenteno JC & et al 1 have described compound heterozygosity for MFRP mutations as the source of this disease and suggested that some aspects of the phenotype are probably age-dependent like glaucoma. The father in this study (age 36 years) had advanced angle closure glaucoma in both eyes and children did not. While not observed in young patients, (as reported by Ayala-Ramirez et al. [7] and Zenteno et al. [11]) glaucoma was noted in older participants in the research performed by Crespi et al. [8]. It is interesting to note in the current family reported, the father does not have microphthalmos and due to no view of the retina, we could not ascertain definitely whether he had retinitis pigmentosa, though he had history of night blindness since childhood. Patient did not agree for ERG testing. A robust ERG in the left eye of the father may have helped to rule out RP. However, if the left eye had showed no responses, it would be difficult to rule in RP as there could be confounders behind the total cataract such as spontaneously attached retina or vascular occlusions making ERG interpretation difficult. Due to the presence of retinal detachment in the right eye, ERG would not help. Transmission of the disease in this family could be by AR mode (whether or not the father was affected with RP) because the wife was a close relative. Analysis of a larger series of cases at the clinical and genetic levels would certainly help us to understand phenotype of this syndrome better. Acknowledgments We are grateful to Hyderabad Eye Research Foundation for funding this work. References 1. Elder MJ (1994) Aetiology of severe visual impairment and blindness in microphthalmos. Br J Ophthalmol 78:
6 2. Auffarth GU, Blum M, Faller Ute Tetz MR, Völcker HE (2000) Relative anterior microphthalmos. Ophthalmology 107: Spitznas M, Gerke E, Bateman VB (1983) Hereditary posterior microphthalmos with papillomacular fold and high hyperopia. Arch Ophthalmol 101: Khairallah M, Messaoud R, Zaouali S, Ben Yahia S, Ladjimi A, Jenzri S (2002) Posterior segment changes associated with posterior microphthalmos. Ophthalmology 109: Lee S, Ai E, Lowe M, Wang T (1990) Bilateral macular holes in sporadic microphthalmos. Retina 10: Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M (2009) Standard for clinical electroretinography (2008 update). 118: Ayala-Ramirez R, Graue-Wiechers F, Robredo V (2006) A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol Vis 12: Crespí J, Buil JA (2008) A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen. Am J Ophthalmol 146: Mukhopadhyay R, Sergouniotis PI, Mackay DS, Day AC, Wright G, Devery S, Leroy BP, Robson AG, Holder GE, Li Z, Webster AR (2010) A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. Mol Vis 26: Desmaison A, Vigouroux A, Rieubland C, Peres C, Calvas P, Chassaing N (2010) Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. Mol Vis 16: Zenteno JC, Buentello-Volante B, Quiroz-González MA, Quiroz-Reyes MA (2009) Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. Mol Vis 15:
Bilateral Microphthalmos Associated with Papillomacular Fold, Severe Hyperopia and Steep Cornea
Bilateral Microphthalmos Associated with Papillomacular Fold, Severe Hyperopia and Steep Cornea Mojtaba Abrishami, MD 1 Alireza Maleki, MD 2 Ali Hamidian-Shoormasti, MD 3 Mostafa Abrishami, MD 4 Abstract
More informationRaul Ayala-Ramirez, 1 Federico Graue-Wiechers, 1 Violeta Robredo, 1 Monica Amato-Almanza, 3 Iliana Horta- Diez, 4 Juan Carlos Zenteno 2,3
Received 16 August 2006 Accepted 24 November 2006 Published 4 December 2006 A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc
More informationThe effect of intravitreal bevacizumab in a rare case of retinal dystrophy with secondary cystoid macular edema
Romanian Journal of Ophthalmology, Volume 61, Issue 2, April-June 2017. pp:123-127 CASE REPORT The effect of intravitreal bevacizumab in a rare case of retinal dystrophy with secondary cystoid macular
More informationPrevalence and mode of inheritance of major genetic eye diseases in China
Journal of Medical Genetics 1987, 24, 584-588 Prevalence and mode of inheritance of major genetic eye diseases in China DAN-NING HU From the Zhabei Eye Institute, Shanghai, and Section of Ophthalmic Genetics,
More informationRPE65-associated Leber Congenital Amaurosis
RPE65-associated Leber Congenital Amaurosis Brian Privett, MD, Edwin M. Stone, MD, PhD February 16, 2010 Chief Complaint: Poor fixation at 4 months of age History of Present Illness: This 7 year old female
More informationOCCLUSIVE VASCULAR DISORDERS OF THE RETINA
OCCLUSIVE VASCULAR DISORDERS OF THE RETINA Learning outcomes By the end of this lecture the students would be able to Classify occlusive vascular disorders (OVD) of the retina. Correlate the clinical features
More informationPatient AB. Born in 1961 PED
Clinical Atlas Patient AB Born in 1961 PED Autofluorescence Dilated 45 EasyScan Zero-dilation IR 45 Fundus Dilated 45 In the fundus photos (Canon CX1) the PED is not able to be seen. However, the extent
More informationOptical Coherence Tomograpic Features in Idiopathic Retinitis, Vasculitis, Aneurysms and Neuroretinitis (IRVAN)
Columbia International Publishing Journal of Ophthalmic Research (2014) Research Article Optical Coherence Tomograpic Features in Idiopathic Retinitis, Vasculitis, Aneurysms and Neuroretinitis (IRVAN)
More informationFundus Autofluorescence. Jonathan A. Micieli, MD Valérie Biousse, MD
Fundus Autofluorescence Jonathan A. Micieli, MD Valérie Biousse, MD The retinal pigment epithelium (RPE) has many important functions including phagocytosis of the photoreceptor outer segments Cone Rod
More informationApplying structure-function to solve clinical cases
Applying structure-function to solve clinical cases Professor Michael Kalloniatis Centre for Eye Health, and, School of Optometry and Vision Science Acknowledgements Some material prepared by Nayuta Yoshioka
More informationdystrophy, and angle closure glaucoma-a new syndrome?
British Journal of Ophthalmology, 69, 624-628 Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma-a new syndrome? SUPRIYO GHOSE, MAHIPAL S SACHDEV, AND HARSH KUMAR From the
More informationClinical Study Choroidal Thickness in Eyes with Unilateral Ocular Ischemic Syndrome
Hindawi Publishing Corporation Journal of Ophthalmology Volume 215, Article ID 62372, 5 pages http://dx.doi.org/1.1155/215/62372 Clinical Study Choroidal Thickness in Eyes with Unilateral Ocular Ischemic
More informationOCULAR DISORDERS REPORT BOSTON TERRIER
OCULAR DISORDERS REPORT BOSTON TERRIER 1991-1999 2000-2009 2010-2012 TOTAL DOGS EXAMINED 2723 6803 2004 Diagnostic Name # % # % # % GLOBE 0.110 microphthalmia 1 0.0% 1 0.0% 0 EYELIDS 20.140 ectopic cilia
More informationMisdiagnosed Vogt-Koyanagi-Harada (VKH) disease and atypical central serous chorioretinopathy (CSC)
HPTER 12 Misdiagnosed Vogt-Koyanagi-Harada (VKH) disease and atypical central serous chorioretinopathy (S) linical Features VKH disease is a bilateral granulomatous panuveitis often associated with exudative
More informationA Case Report of Vogt s Limbal Girdle and Retinitis Pigmentosa in a Thirteen-Year-Old Boy: A Rare and Unusual Association
Published online: September 5, 2015 1663 2699/15/0063 0311$39.50/0 This is an Open Access article licensed under the terms of the Creative Commons Attribution- NonCommercial 3.0 Unported license (CC BY-NC)
More informationGlaucoma Clinical Update. Barry Emara MD FRCS(C) Giovanni Caboto Club October 3, 2012
Glaucoma Clinical Update Barry Emara MD FRCS(C) Giovanni Caboto Club October 3, 2012 Objectives Understand the different categories of glaucoma Recognize the symptoms and signs of open angle and angle-closure
More informationWhat Is O.C.T. and Why Should I Give A Rip? OCT & Me How Optical Coherence Tomography Changed the Life of a Small Town Optometrist 5/19/2014
OCT & Me How Optical Coherence Tomography Changed the Life of a Small Town Optometrist Email: myoder@wcoil.com Mark A. Yoder, O.D. 107 N. Main Street PO Box 123 Bluffton, OH 45817 @yoderod 115.02 Histoplasma
More informationZEISS AngioPlex OCT Angiography. Clinical Case Reports
Clinical Case Reports Proliferative Diabetic Retinopathy (PDR) Case Report 969 PROLIFERATIVE DIABETIC RETINOPATHY 1 1-year-old diabetic female presents for follow-up of proliferative diabetic retinopathy
More informationMegalocornea is a non-progressive, uniformly
Case Report 191 Anterior Megalophthalmos Chien-Kuang Tsai, MD; Ing-Chou Lai, MD; Hsi-Kung Kuo, MD; Mei-Chung Teng, MD; Po-Chiung Fang, MD We describe a 36-year-old female who suffered from presenile cataract
More informationCase report 12/10/2014. Delphine Lam ; Dr Mayer Srour Service d ophtalmologie Professeur E.Souied Université Paris Est
Case report 12/10/2014 Delphine Lam ; Dr Mayer Srour Service d ophtalmologie Professeur E.Souied Medical history Man, 75 years old Complaint: Vision loss in left eye in June 2014 Past ophthalmologic history:
More informationOptical Coherence Tomography in Diabetic Retinopathy. Mrs Samantha Mann Consultant Ophthalmologist Clinical Lead of SEL-DESP
Optical Coherence Tomography in Diabetic Retinopathy Mrs Samantha Mann Consultant Ophthalmologist Clinical Lead of SEL-DESP Content OCT imaging Retinal layers OCT features in Diabetes Some NON DR features
More informationDOME SHAPED MACULOPATHY. Ιωάννης Ν. Βαγγελόπουλος Χειρ. Οφθαλμίατρος - Βόλος
DOME SHAPED MACULOPATHY Ιωάννης Ν. Βαγγελόπουλος Χειρ. Οφθαλμίατρος - Βόλος DOME SHAPED MACULOPATHY-DEFINITIONS The entity Dome Shaped Macula ( DSM ) was first described by Gaucher and associates in 2008
More informationRecurrent intraocular hemorrhage secondary to cataract wound neovascularization (Swan Syndrome)
Recurrent intraocular hemorrhage secondary to cataract wound neovascularization (Swan Syndrome) John J. Chen MD, PhD; Young H. Kwon MD, PhD August 6, 2012 Chief complaint: Recurrent vitreous hemorrhage,
More informationProgressive Symptomatic Retinal Detachment Complicating Retinoschisis. Initial Reporting Questionnaire
Progressive Symptomatic Retinal Detachment Complicating Retinoschisis In association with the British Ophthalmological Surveillance Unit Ethics ref: 13/NW/0037 Initial Reporting Questionnaire Case Definition:
More informationAudit of Macular Hole Surgery, Visual Outcome Prediction on OCT Appearance of Macular Hole
International Journal of Ophthalmology & Visual Science 2017; 2(4): 93-97 http://www.sciencepublishinggroup.com/j/ijovs doi: 10.11648/j.ijovs.20170204.13 Audit of Macular Hole Surgery, Visual Outcome Prediction
More informationDepartment of Ophthalmology
Period : 03/July/17 to 07/September/17 Semester : 7 th Semester Department of Ophthalmology Lecture Lesson Plan Sr 1 03.07.17 Uvea-Anatomy, Uvea-Anatomy, Classification of Uveitis Dr R Paranjpe Classification
More informationCHAPTER 13 CLINICAL CASES INTRODUCTION
2 CHAPTER 3 CLINICAL CASES INTRODUCTION The previous chapters of this book have systematically presented various aspects of visual field testing and is now put into a clinical context. In this chapter,
More informationVanderbilt Eye Institute Clinical Trials
April, 2010 Vanderbilt Eye Institute Clinical Trials Ophthalmology Actively Recruiting Studies For information on our clinical trials and other studies, please contact: Sandy Owings, COA, CCRP Clinic Director
More informationNovel Heterozygous Mutation in YAP1 in A Family with Isolated Ocular Colobomas
Novel Heterozygous Mutation in YAP1 in A Family with Isolated Ocular Colobomas Julius T. Oatts 1, Sarah Hull 2, Michel Michaelides 2, Gavin Arno 2, Andrew R. Webster 2*, Anthony T. Moore 1,2* 1. Department
More information2/26/2017. Sameh Galal. M.D, FRCS Glasgow. Lecturer of Ophthalmology Research Institute of Ophthalmology
Sameh Galal M.D, FRCS Glasgow Lecturer of Ophthalmology Research Institute of Ophthalmology No financial interest in the subject presented 1 Managing cataracts in children remains a challenge. Treatment
More informationHOW TO CITE THIS ARTICLE:
BILATERAL MACULAR COLOBOMA AND MULTIPLE SYSTEMIC ASSOCIATIONS: AN INTERESTING CASE STUDY Harapanahalli Venkatesh Soumya 1, Sastry Purushottam 2, Sundaramurthy Harsha 3, Channanayak Chandrashekhar 4, Bechavalli
More informationOCT and muti-focal ERG findings in spontaneous closure of bilateral traumatic macular holes
Doc Ophthalmol (2008) 116:159 164 DOI 10.1007/s10633-008-9113-1 CASE REPORT OCT and muti-focal ERG findings in spontaneous closure of bilateral traumatic macular holes Hongling Chen Æ Mingzhi Zhang Æ Shizhou
More informationOCT Angiography in Primary Eye Care
OCT Angiography in Primary Eye Care An Image Interpretation Primer Julie Rodman, OD, MS, FAAO and Nadia Waheed, MD, MPH Table of Contents Diabetic Retinopathy 3-6 Choroidal Neovascularization 7-9 Central
More information1/25/2019 OCT & OCTA RETINAL IMAGING: HOW TO PREVENT RAGING GLAUCOMA! THE ORIGINAL RAGING GLAUCOMA OCT RETINAL IMAGING OPTIC NERVE HEAD EXAMINATION
OCT & OCTA RETINAL IMAGING: HOW TO PREVENT RAGING GLAUCOMA! Craig Thomas, O.D. 3900 West Wheatland Road Dallas, Texas 75237 972-780-7199 thpckc@yahoo.com THE ORIGINAL RAGING GLAUCOMA 47-year-old Black
More informationMeet Libby. Corneal Dysgenesis, Degeneration, and Dystrophies Definitions. Dr. Victor Malinovsky
Meet Libby Corneal Dysgenesis, Degeneration, and Dystrophies 2006 Dr. Victor Malinovsky Definitions Dysgenesis: (congenital anomalies) A development disorder that results in a congenital malformation of
More informationDo You See What I See!!! Shane R. Kannarr, OD
Do You See What I See!!! Shane R. Kannarr, OD skannarr@kannarreyecare.com Define Specialty Testing Additional Test to: Prove/Disprove Diagnosis To monitor progression of a condition To document a condition
More informationDepartment of Ophthalmology
Department of Ophthalmology Period : 02/July/18 to 30/August/18 Semester : 7 th Semester Lecture Lesson Plan Sr. Date Topic Lesson plan Name of Faculty No. 1 02.07.18 Lens- Lens-Anatomy, Classification
More informationCase #1: 68 M with floaters OS
Case #1: 68 M with floaters OS Point-of-Care Ocular Sonography for the Emergency Department Nate Teismann MD Dept of Emergency Medicine, UCSF Topics in EM 2012 Acute onset of dark spots in L eye 2 days
More informationUnilateral pigmentary retinopathy a review of literature and case presentation
Romanian Journal of Ophthalmology, Volume 60, Issue 1, January-March 2016. pp:47-52 CASE REPORT Unilateral pigmentary retinopathy a review of literature and case presentation Stamate Alina-Cristina, Burcea
More informationVitreous haemorrhage in massive hemorrhagic polypoidal choroidal vasculopathy: clinical characteristics and surgical outcomes
DOI 10.1186/s40942-015-0025-4 International Journal of Retina and Vitreous ORIGINAL ARTICLE Open Access Vitreous haemorrhage in massive hemorrhagic polypoidal choroidal vasculopathy: clinical characteristics
More informationCLINICAL SCIENCES. Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy
CLINICAL SCIENCES Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy Connie J. Chen, MD; Hendrik P. N. Scholl, MD, MA; David G. Birch, PhD; Takeshi Iwata, PhD; Neil R.
More informationA Case of Childhood Vitrectomy Performed for Dense Vitreous Hemorrhage Secondary to Leukemia Therapy and Tumor Lysis Syndrome
Published online: January 27, 2015 1663 2699/15/0061 0034$39.50/0 This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial 3.0 Unported license (CC BY-NC)
More informationBilateral retinoblastoma in early infancy
Saiju R et al Case report Bilateral retinoblastoma in early infancy Saiju R, Duwal S Tilganga Institute of Ophthalmology, Kathmandu, Nepal Abstract Introduction: Retinoblastoma is the most common primary
More informationS uperior segmental optic hypoplasia (SSOH), also termed
910 CLINICAL SCIENCE Optical coherence tomography of superior segmental optic hypoplasia K Unoki, N Ohba, W F Hoyt... See end of article for authors affiliations... Correspondence to: Kazuhiko Unoki, MD,
More informationThe Anterior Segment & Glaucoma Visual Recognition & Interpretation of Clinical Signs
The Anterior Segment & Glaucoma Visual Recognition & Interpretation of Clinical Signs Quiz created by Jane Macnaughton MCOptom & Peter Chapman BSc MCOptom FBDO CET Accreditation C19095 2 CET Points (General)
More information9/25/2017 CASE. 67 years old On 2 topical meds since 3 years. Rx: +3.0 RE LE
CASE 67 years old On 2 topical meds since 3 years Rx: +3.0 /-0.5@65 RE +2.5/-0.5@115 LE IOP : 17 RE 19 LE CD: 0.5 RE 0.6 LE 1 67 years old On 2 topical meds since 3 years Rx: +3.0 /-0.5@65 RE +2.5/-0.5@115
More informationOcular Pathology. I. Congenital and/or developmental. A. Trisomy 21. Hypertelorism (widely spaced eyes) Keratoconus (cone shaped cornea)
I. Congenital and/or developmental Robbins Pathologic Basis of Disease, 6 th Ed. A. Trisomy 21 Hypertelorism (widely spaced eyes) Keratoconus (cone shaped cornea) Focal hypoplasia of iris Cataracts frequently
More informationOCT Assessment of the Vitreoretinal Relationship in CSME
December 2007 Sonia Rani John et al. - IFIS 375 ORIGINAL ARTICLE OCT Assessment of the Vitreoretinal Relationship in CSME Dr. Manoj S. DNB FRCS, Dr. Unnikrishnan Nair MS DO FRCS, Dr. Gargi Sathish MS Introduction
More informationDr. D. Y. Patil Medical College, Pimpri, Pune
Dr. D. Y. Patil Medical College, Pimpri, Pune - 411 018 Period : 04/July/16 to 22/September/16 Semester : 7 th Semester Department : Ophthalmology Lecture Lesson Plan Sr No Date Topic Learning objectives
More informationIs this glaucoma? Leo Semes, OD Michael Chaglasian, OD Danica Marrelli, OD. Optometry s Meeting 2015 Seattle, WA
Is this glaucoma? Leo Semes, OD Michael Chaglasian, OD Danica Marrelli, OD Optometry s Meeting 2015 Seattle, WA Case 1. 54 WM Engineer is referred to UAB Eye Care as a glaucoma suspect. Mild myopic refractive
More informationOphthalmology. Ophthalmology Services
Ophthalmology Ophthalmology Services The Ophthalmology service offers the latest and most comprehensive eye care for patients. With a dedicated team of eye surgeons and consultants, we treat vision problems
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Leber congenital amaurosis OMIM number for disease 204000 Disease alternative
More informationFellow Eye Findings of Highly Myopic Subjects Operated for Retinal Detachment Associated with a Macular Hole
Fellow Eye Findings of Highly Myopic Subjects Operated for Retinal Detachment Associated with a Macular Hole Guido Ripandelli, MD, Andrea Maria Coppé, MD, Vincenzo Parisi, MD, Mario Stirpe, MD Purpose:
More informationMark Dunbar: Disclosure
Important Things to Understand About OCT Mark T. Dunbar, O.D., F.A.A.O. Bascom Palmer Eye Institute University of Miami, School of Medicine Mark Dunbar: Disclosure Optometry Advisory Board for: Allergan
More informationClinically Significant Macular Edema (CSME)
Clinically Significant Macular Edema (CSME) 1 Clinically Significant Macular Edema (CSME) Sadrina T. Shaw OMT I Student July 26, 2014 Advisor: Dr. Uwaydat Clinically Significant Macular Edema (CSME) 2
More informationStudy of clinical significance of optical coherence tomography in diagnosis & management of diabetic macular edema
Original Research Article Study of clinical significance of optical coherence tomography in diagnosis & management of diabetic macular edema Neha Kantilal Desai 1,*, Somesh Vedprakash Aggarwal 2, Sonali
More informationSorsby's pseudoinflammatory macular dystrophy
British Journal of Ophthalmology, 1981, 65, 859-865 Sorsby's pseudoinflammatory macular dystrophy A. HOSKIN, K. SEHMI, AND A. C. BIRD From the Department of Clinical Ophthalmology, Institute of Ophthalmology,
More informationUnifactorial or Single Gene Disorders. Hanan Hamamy Department of Genetic Medicine and Development Geneva University Hospital
Unifactorial or Single Gene Disorders Hanan Hamamy Department of Genetic Medicine and Development Geneva University Hospital Training Course in Sexual and Reproductive Health Research Geneva 2011 Single
More informationOPHTHALMIC MOLECULAR GENETICS. SECTION EDITOR: JANEY L. WIGGS, MD, PhD
OPHTHALMIC MOLECULAR GENETICS SECTION EDITOR: JANEY L. WIGGS, MD, PhD Phenotypic Characterization of 3 Families With Autosomal Dominant Retinitis Pigmentosa Due to Mutations in KLHL7 Yuquan Wen, PhD; Kirsten
More informationParafoveal Scanning Laser Polarimetry for Early Glaucoma Detection
Yamanashi Med. J. 18(1), 15~ 20, 2003 Original Article Parafoveal Scanning Laser Polarimetry for Early Glaucoma Detection Satoshi KOGURE, Yoshiki TODA, Hiroyuki IIJIMA and Shigeo TSUKAHARA Department of
More informationSeong Joon Ahn *, Jooyoung Joung, Sang Hyup Lee and Byung Ro Lee *
Ahn et al. BMC Ophthalmology (2018) 18:310 https://doi.org/10.1186/s12886-018-0985-x CASE REPORT Open Access Intravitreal dexamethasone implant therapy for the treatment of cystoid macular Oedema due to
More informationLocal Coverage Determination (LCD): Scanning Computerized Ophthalmic Diagnostic Imaging (SCODI) (L34431)
Local Coverage Determination (LCD): Scanning Computerized Ophthalmic Diagnostic Imaging (SCODI) (L34431) Links in PDF documents are not guaranteed to work. To follow a web link, please use the MCD Website.
More informationTHE CHRONIC GLAUCOMAS
THE CHRONIC GLAUCOMAS WHAT IS GLAUCOMA? People with glaucoma have lost some of their field of all round vision. It is often the edge or periphery that is lost. That is why the condition can be missed until
More informationFunduscopic Interpretation Understanding the Fundus: is that normal?
Funduscopic Interpretation Understanding the Fundus: is that normal? Gillian McLellan BVMS PhD DVOphthal DECVO DACVO MRCVS With thanks to Christine Heinrich and all who contributed images Fundus Retina
More informationevaluation of vitreoretinal adhesions in exudative AMD using optical coherence tomography
evaluation of vitreoretinal adhesions in exudative AMD using optical coherence tomography Dr. Mahmoud Alaa Abouhusssein, FRCO Lecturer of ophthalmology, Alexandria university Dr. Amir Ramadan Gomaa, MD
More informationWITH REPORT OF A PEDIGREE*
Brit. J. Ophthal. (1955), 39, 374. HEREDITARY POSTERIOR POLAR CATARACT WITH REPORT OF A PEDIGREE* BY C. G. TULLOH London K HEREDITARY, developmental, posterior polar cataract has been encountered in a
More informationInternational Journal of Ophthalmic Research
International Journal of Ophthalmic Research Online Submissions: http://www.ghrnet.org/index./ijor/ doi:10.17554/j.issn.2409-5680.2017.03.55 Int. J. Ophthalmic Res 2017 June; 3(2): 226-230 ISSN 2409-5680
More informationUnravelling the genetic basis of simplex Retinitis Pigmentosa cases
SUPPLEMENTARY INFORMATION Unravelling the genetic basis simplex Retinitis Pigmentosa cases Nereida Bravo-Gil 1,2#, María González-del Pozo 1,2#, Marta Martín-Sánchez 1, Cristina Méndez-Vidal 1,2, Enrique
More informationDr/ Marwa Abdellah EOS /16/2018. Dr/ Marwa Abdellah EOS When do you ask Fluorescein angiography for optic disc diseases???
When do you ask Fluorescein angiography for optic disc diseases??? 1 NORMAL OPTIC DISC The normal optic disc on fluorescein angiography is fluorescent due to filling of vessels arising from the posterior
More informationCollaboration in the care of glaucoma patients and glaucoma suspects. Barry Emara MD FRCS(C) Nico Ristorante November 29, 2012
Collaboration in the care of glaucoma patients and glaucoma suspects Barry Emara MD FRCS(C) Nico Ristorante November 29, 2012 Goals of Collaboration Patient-centred and evidence based approach Timely access
More informationThe effect of a single intravitreal implantation of dexamethasone on the fellow eye in bilateral non-infectious uveitis case report
European Review for Medical and Pharmacological Sciences The effect of a single intravitreal implantation of dexamethasone on the fellow eye in bilateral non-infectious uveitis case report J. CISZEWSKA,
More informationKamron N Khan PhD, FRCOphth [1-3], Keren Carss [5], F. Lucy Raymond [5], Farrah Islam
Title: Vitamin A deficiency - there's more to it than meets the eye. Kamron N Khan PhD, FRCOphth [1-3], Keren Carss [5], F. Lucy Raymond [5], Farrah Islam FCPS, FRCS [2], Anthony T Moore FRCS, FRCOphth
More informationRare Presentation of Ocular Toxoplasmosis
Case Report Rare Presentation of Ocular Toxoplasmosis Rakhshandeh Alipanahi MD From Department of Ophthalmology, Nikookari Eye Hospital, Tabriz University of Medical Sciences, Tabriz, Iran. Correspondence:
More informationNEPTUNE RED BANK BRICK
NEPTUNE RED BANK BRICK Diabetes & The Eye Diabetics are more likely to develop Cataracts at a younger age. Diabetics are twice as likely to develop Glaucoma when compared to non-diabetics. The primary
More informationACTIVATED OR NOT? RETINAL CASE PRESENTATION Shorye Payne, MD Medical Retinal Specialist Robley Rex VA Eye Clinic
ACTIVATED OR NOT? RETINAL CASE PRESENTATION Shorye Payne, MD Medical Retinal Specialist Robley Rex VA Eye Clinic C We anticipate that the future management of posterior uveal melanoma (PUM) will focus
More informationand at the same patient encounter. Code has been deleted. For scanning computerized ophthalmic diagnostic imaging of optic nerve and retin
92227: Remote imaging for detection of retinal disease (eg, retinopathy in a patient with diabetes) with analysis and report under physician supervision, unilateral or bilateral. For Medicare, bill only
More informationCourse C21. Visual Electrophysiology in Children. 12 June, :15-17:45 hrs. Room 118/119 HAND-OUTS
Course C21 Visual Electrophysiology in Children 12 June, 2017 16:15-17:45 hrs Room 118/119 HAND-OUTS Introducing visual electrophysiology tests and results Ruth Hamilton - A description of paeditaric tests
More information53 year old woman attends your practice for routine exam. She has no past medical history or family history of note.
Case 1 Normal Tension Glaucoma 53 year old woman attends your practice for routine exam. She has no past medical history or family history of note. Table 1. Right Eye Left Eye Visual acuity 6/6 6/6 Ishihara
More informationGlaucoma Glaucoma is a complication which has only recently been confirmed as a feature of
1.2.4 OPHTHALMOLOGICAL ABNORMALITIES Ocular abnormalities are well documented in patients with NPS 6 62 81 95. 1.2.4.1 Glaucoma Glaucoma is a complication which has only recently been confirmed as a feature
More informationUnique peptides for reversing eye aging: Latest inventions in macular degeneration and diabetic retinopathy treatment
Unique peptides for reversing eye aging: Latest inventions in macular degeneration and diabetic retinopathy treatment Prof. Svetlana Trofimova,, M.D., Ph.D. Saint Petersburg Institute of Bioregulation
More informationOptical Coherence Tomography Findings in Highly Myopic Eyes following Cataract Surgery
Optical Coherence Tomography Findings in Highly Myopic Eyes following Cataract Surgery Fedra Hajizadeh, MD 1 Mohammad Riazi Esfahani, MD 1,2 Hooshang Faghihi, MD 3 Mehdi Khanlari, MD 4 Abstract Purpose:
More informationFamilial iris melanosis -a misnomer?
Familial iris melanosis -a misnomer? BRIAN C JOONDEPH AND MORTON F British Journal of Ophthalmology, 1989, 73, 289-293 GOLDBERG From the Department of Ophthalmology, Eye and Ear Infirmary, University of
More informationCritical Complication Wonderfully Managed by Vitreoretinal Surgeon
Critical Complication Wonderfully Managed by Vitreoretinal Surgeon Prof. Dr. Sherif Embabi Consultant of ophthalmology Ain Shams univ. & Alwatany Eye Hospital, MD Dr. Remon Atef Ophthalmology specialist
More informationReports. Macular Thickness as a Potential Biomarker of Mild Alzheimer s Disease
Reports Macular Thickness as a Potential Biomarker of Mild Alzheimer s Disease Although several postmortem findings in the retina of patients with Alzheimer s disease (AD) are available, 1 new biomarkers
More informationVisual loss and foveal lesions in Usher's syndrome
British Journal of Ophthalmology, 1979, 63, 484-488 Visual loss and foveal lesions in Usher's syndrome GERALD FISHMAN, VICTORIA VASQUEZ, MARLENE FISHMAN, AND BERGER' From the Department of Ophthalmology,
More informationCirrus TM HD-OCT. Details defi ne your decisions
Cirrus TM HD-OCT Details defi ne your decisions 2 With high-defi nition OCT Carl Zeiss Meditec takes you beyond standard spectral domain Built on 10 years experience at the vanguard of innovation, Carl
More informationUltrasound Evaluation of the Posterior Segment of the Eye A Ready Reckoner
180 Kerala Journal of Ophthalmology Vol. XX, No. 2 OPHTHALMIC INSTRUMENTATION Ultrasound Evaluation of the Posterior Segment of the Eye A Ready Reckoner Dr. Mahesh G. MS DO DNB FRCSEd., Dr. A. Giridhar
More informationHereditary optic atrophy with onset in
Brit. J. Ophthal. (I 974) 8, 81 7 Hereditary optic atrophy with onset in early childhood J. D. BRODRICK Sheffield Duke-Elder and Scott (I97I) classified hereditary optic atrophy into three groups: (I)
More informationTHE CHRONIC GLAUCOMAS
THE CHRONIC GLAUCOMAS WHAT IS GLAUCOMA People with glaucoma have lost some of their field of all round vision. It is often the edge or periphery that is lost. That is why the condition can be missed until
More informationYasser R. Serag, MD Tamer Wasfi, MD El- Saied El-Dessoukey, MD Magdi S. Moussa, MD Anselm Kampik, MD
Microperimetric Evaluation of Brilliant Blue G- assisted Internal Limiting Membrane Peeling By Yasser R. Serag, MD Tamer Wasfi, MD El- Saied El-Dessoukey, MD Magdi S. Moussa, MD Anselm Kampik, MD The internal
More informationGoals. Glaucoma PARA PEARL TO DO. Vision Loss with Glaucoma
Glaucoma Janet R. Fett, OD Drs. Kincaid, Fett and Tharp So Sioux City, NE eyewear21@hotmail.com Goals Understand Glaucoma Disease process Understand how your data (objective and subjective) assists in
More informationA Curious Case of Bilateral Optic Disc Edema Brittney Dautremont, DO, MPH
A Curious Case of Bilateral Optic Disc Edema Brittney Dautremont, DO, MPH PGY2 Ophthalmology Resident Grandview Medical Center Dayton, OH CASE PRESENTATION 51 year old white female presenting with blurred
More informationmeasure of your overall performance. An isolated glucose test is helpful to let you know what your sugar level is at one moment, but it doesn t tell you whether or not your diabetes is under adequate control
More informationOPTIC DISC PIT Pathogenesis and Management OPTIC DISC PIT
OPTIC DISC PIT Pathogenesis and Management Abdel-Latif Siam Ain Shams University Cairo Egypt OPTIC DISC PIT Congenital pit is an atypical coloboma usually located on the temporal edge of the disc, associated
More informationIntro to Glaucoma/2006
Intro to Glaucoma/2006 Managing Patients with Glaucoma is Exciting Interesting Challenging But can often be frustrating! Clinical Challenges To identify patients with risk factors for possible glaucoma.
More informationAmber Priority. Image Library
Amber Priority Image Library Amber flag Diabetic Maculopathy (M1) Pre-proliferative Diabetic Retinopathy (R2) Old, treated and now inactive DR (R1/M0/P1or R0/M0/P1) Where only partial or incomplete images
More informationMoving forward with a different perspective
Moving forward with a different perspective The Leader In Vision Diagnostics Offers A New Perspective Marco has served the eyecare community by offering exceptional lane products and automated high tech
More information3/23/2016. Diagnostic Services Taylor Pannell CRA, OCT-C. Services Available. Important info for the Tech to know. Visual Fields
Services Available Diagnostic Services Taylor Pannell CRA, OCT-C Static and Kinetic Visual Fields Pachymetry Anterior and Posterior Segment OCT Fundus Photos FAF,FA,ICG Slit Lamp Photography Confocal HRT
More information