A Practical Approach to Pediatric Retinal Diseases
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1 A Practical Approach to Pediatric Retinal Diseases Diana Shechtman OD FAAO Consultative Optometric Physician RMSM Adjunct Professor, Nova Southeastern University Rachel Stacey Coulter OD MS FAAO Professor, Nova Southeastern University Please silence all mobile devices and remove items from chairs so others can sit. Unauthorized recording of this session is prohibited.
2 DISCLOSURE For Dr. Shechtman Advisory Borad or Speakers Bureau for B&L, Zeiss, Optos,, SBH, Alcon Nutrition, Allergan, Essilor, SBH, ZeaVision Consultant for Genentech DISCLOSURE For Dr. Coulter None
3 Diagnosing pediatric retinal conditions Onset may be subtle Exam may be challenging Findings and VA may not always correlate OCT and other diagnostic testing may allow earlier detection but don t have pediatric normative data When to think retinopathy in a child?
4 Congenital or Acquired Non ROP related (which is #1 cause of VL) #academy16
5 #academy16
6 RP: Retinitis pigmentosa Genetic diverse GROUP of disorders characterized by: Nyctalopia Visual field loss ú VFD varies Abnormal/extinguished ERG ú Progressive loss of photoreceptors function Number of variable DFE presentations 5-7yo can perform ERG testing Question is Can they fixate, would they be able to take VF, will they tolerate dilation drops?
7 Electrodiagnostics When to consider it in children: Nystagmus or poor vision from birth Macular lesion in the young Generalized retinal degeneration Decreased VA of unknown cause NOTE that flash ERG may not give you enough info for localized disease (need mferg)
8 Electrodiagnostics Consider in: decreased VA of unknown, nystagmus, retinopathy, MORE than just ERG (generalized) EOG (Dx for Best s), mferg (localized), VEP (abnormalities affecting visual pathway/cortex: OAG, optic neuritis, optic atrophy, stroke, compression, & amblyopia) 5-7 yo can perform tests Determining age group: Can child take a VF test? Can they tolerate dilating drops?
9 Flash (full) ERG GOOD because gives overall relative potential of retina ú Small or localized defects can be missed ú It does not require cooperative fixation 45min test ú BUT 30min dark adaptation & 10 min light adaptation. Thus, test time is not long after electrode place (but child must withstand electrode ) mferg Response within central 50 degrees ú Measures specific area rather than overall response Short (7min) but requires a VERY attentive child ú FIXATE for 30-45sec at a time
10 ERG When? Indications Nystagmus or poor vision from birth Macular lesion in the young Generalized retinal degeneration Decreased VA of unknown cause Testability Consider for patient 5-7 yo Must be able to fixate; how well do they tolerate dilation?
11 Flash (Full) ERG Gives overall relative potential of retina Requires less cooperative fixation 45 min test 30 min dark adaptation, 10 min light adaptation; test time not long after electrode place but child must tolerate electrode
12 Multifocal (mf) ERG may need for localized disease Response within central 50 degrees Short (7 min) but requires very attentive child
13 RP Classifications Distinct mode of inherited (Ask about their family history) A/D A/R X-linked Yet, many have no FHx Syndromes (ask about systemic disease) Usher s (hearing loss) Alstrom Kearn sayer (? Cardio involvement) Refsum (progressive hearing loss) may be slowed down with diet change Bardet-Biedl syndrome MORE
14 Would you recommend 15,000 IU of Vit A (palmitate form) to a child? What else can you consider?
15 Nutritional Management Real world retina: recommendation of MV (which has some Vit A) For KIDS (studies did not look at Vit A for kids) & there s controversy of L/O Recommendation to use 15,000 IU Vit A therapy in palmitate form Yet, the study never evaluated efficacy and safety in child <18 yo & only on typical RP/Usher s syndrome ú Not given to pregnant pts ú Careful with pts >50 yo TODAY Lutein & Omega 3 may be considered & has been associated with decrease rate of VA loss & VFD deterioration ú 10-12mg Lutein ú >200mg of dietary intake of O3
16 Nutritional intervention RP in Adults recommend 15,000 IU Vit A palmitate form; BUT study never evaluated efficacy safety in <18 yo & only on typical RP/Usher Syndrome Lutein & Omega 3 may be considered to decrease rate of VA loss and VFD deterioration mg Lutein >200 mg of dietary intake of Omega 3
17 Ø Ø Ø XL EXCLUSIVELY a male disease Ø Females are carriers Present in 1 st decade of life VA 20/40 initially Ø slow progression to 20/200 (may attribute to macular to atrophy w pigmentary change)
18 3yo can be image with SDOCT (portable machines i.e. ivue may be used for infants How do you get normative data on a child?
19 OCT Normative data use 18 year old values until ped values available Testability consider at age 6 yo
20 Start up Work up for inflammatory/infectious systemic disease Smac 20 (body as a whole and CBC w diff) Toxoplasmosis/? toxocara HSV/HZO titers CMV titers/ HIV elisa Initial treatment Lyme/syphilis is PF and testing cyclo till you know wat you CXR are dealing with TB testing (?quantiferon Gold blood test vs tubercullin skin test) Bartonella elisa titers Epstein Barr testing ACE/lysozyme testing for sarcodosis P-ANCA (Wegener s granulomatosis) ANA/ESR/CRP
21 Ø ERG shows severely reduced b-wave amplitudes with normal a-wave Ø Electro (-) response Ø Reflects functional impairment of the inner retinal layers Only shows electro (-) response
22 So how do I know it is a cone dystrophy? Group of disorders characterized by functional TRIAD dysfunction: Photophobia (light sensitivity) Reduced central acuity varies Abnormal color vision varies Central VFD Variable maculopathies 30Hz flicker confirms Dx What is the diagnostic test?
23 Stargardt s Disease May present in a variety of MACULAR abnormal patterns with variable VL in a CHILD Maculopathy +/- flecks Flecks may be perifoveal or midperipheral
24 Stargardt s Disease (Fundus Flavimaculatus or Juv mac degen) 1: 8,000-10,000 #1 inherited MACULAR dystrophy (A/R) Diffuse lipofuscin Affecting RPE Dysfunction in ABCA4 or STGD gene cause LP storage abnormalities Symptoms Progressive VL at school age (6-10) stabilizes after a few yrs (2-5yrs) ú Stabilize to 20/200
25 Back to our case NOTE CV normal, thus it is not Cone No nyctalopia/nml CF & centralize in the macula not RP At age 10, DFE doesn t look Best or XL like What test will confirm your presumed Dx???
26 INCREASE AF= LP Lysosomal storage disease with increase LP THE CENTER WILL HAVE DECREASED AUTOFL (loss of RPE)
27 Of note, Fundus Flavimaculatus Flecks with NO associated maculopathy This believed to be pooling LP accumulation (like long multiple mini best lesions) Although there is NO maculopathy Fleck distribution may change over time & can correlate with VL if within macula peripheral
28 Think inherited retinal diseases Bilateral & symmetrical appearance of retinal anomalous changes Young child Decreased VA (variable) (+) FHx Retinal disease Blindness or visual impairment
29 Vitreoretinopathies l FEVR (Familial exudative vitreoretinopathy) l Coats syndrome l ROP (retinopathy of prematurity) l PHPV (persistent hyperplastic primary vitreous)
30 Coats Disease Telangiectasis of major retinal vessels Dilated aneurysmal retinal arterioles Unilateral & affects male YOUNG pts (18m-16 y0) Telangiectasia leads to dramatic leakage Exudation (intraretinal / subretinal ) à exudative RD Retinal edema & hemorrhage Decompensating vasculature leads to ischemiaàrubeosis & NVG Strabismus, VL, cataracts & VH may all be associated with the condition
31 OCTA 1.Testability age yo 2.Used to evaluate and characterize pediatric choroidal neovascularization
32 OCTA Testability age yo Used to evaluate and characterize pediatric choroidal neovascularization
33 What tests can help to determine: RD vs retinoschisis? VF Ultrasonography Scleral depress OCT
34 RD in the YOUNG RD in young account <10% of all RDs Bilateral retinal detachments are more common in the pediatric population % of ADULTS pt report si/s & % less in younger pts Hence, children with RD are more likely to present with macula OFF or PVR due to chronicity Causes of RD in the young: HIGH Myopes Trauma #1 FHx of VR disease S/p surgery (i.e. cataract surgery) Retinal vascular diseases (ROP & FERV)
35 Stickler s syndrome RB/RD associated with anomalous vitreous+ oralfacial abnormalities + joint problems #1 cause of adolescent RDs #1 inherited RD A/D
36 Sticklers syndrome: Multi-organ affect due to collagen (II, IX, XI) Musculoskeletal Auditory Craniofacial Eye Fibril collagen
37 Stickler syndrome (hereditary progressive arthro-ophthamopathy) l Most common INHERITED (A/D) connective tissue disorder àprogressive l Ocular signs include u High progressive Myopia >8D But 20% may not have this u Vitreous anomalies Membranous structures u RB & RD u Other associations: cataracts & glaucoma
38 Stickler s DDx Wagner s vitreoretinal degeneration l Ocular manifestations similar to Stickler syndrome, but NO systemic involvement u Different gene than Stickler syndrome Different gene affection a protein responsible for maintaining the structure of the V by keeping collagen molecules apart u Manifestations include: Anomalous vitreousàrbàrd Chorioretinal atrophy High Myopia
39 Leukocoria: A worrisome complaint Cataracts Retinopathy of prematurity (ROP) Stage 3-5 Persistent hyperplastic primary vitreous (PHPV) Coats disease Toxoplasmosis Toxocariasis Retinoblastoma
40 CC: white pupil OD Med Hx: fever, malaise & abdominal pain BCVA: 20/100 OD, 20/20 OS PUPILS : (-) APD CF: FTFC OD,OS IOP: 17mmHg OD 18mmHg OS SLE: panuveitis noted OD
41 #1 treatment is Corticosteroids (systemic/periocular) Moderate-severe or visual threatening presentations 1mg/kg QD for wks-month with taper Treatment is designed to minimize host defense system
42 Rx for a child: Erythromycin for 60 lb child Available concentration 200 mg or 400 mg Recommended dose is mg/kg/day SO. 60 lb = 27 kg 60/2.2=27 Dosage = mg (recommended)/kg/day 30 mg X 27 kg= 810 mg/day Dosing interval (what s available) 810 mg / 4 doses = mg QID
43 Considerations in Retinoblastoma What is the survival rate for RB How likely is it that Justin will live to see his 5 th birthday? Answer: Pretty good! Survival for RB is > 95%
44 Considerations in Retinoblastoma What is the survival rate for RB How likely is it that Justin will survive to 50? Answer: Not very good.
45 Prognosis for Visual Impairment Comprehensive clinical low vision care As soon as visual impairment identified, regardless of age or presence of additional physical or developmental disabilities. Ongoing care, especially impt during transition periods Individualized Education Program Functional skills, orientation and mobility skills, social skills, independent living, recreation, career education, assistive technology, sensory efficiency, self-determination
46 Diana Shechtman OD FAAO Rachel Stacey Coulter OD FAAO
47 Please remember to complete your session evaluations online. Tweet about this session using the official meeting hashtag #academy17
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