Combined Cataract Surgery on a Marfan-syndrome Patient (Case report)
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1 Combined Cataract Surgery on a Marfan-syndrome Patient (Case report) Z. Biró, I. Szabó, Z. Pámer Summary Combined cataract surgery of an ectopic lens was performed on a 10 years old girl with Marfan-syndrome. A Cionni capsular tension ring was implanted into the capsular bag, and the bag was pulled to its place and fixed with a scleral suture. Because of the young age of the patient a primary posterior capsulorhexis was performed, through which anterior vitrectomy was carried out and the artificial lens was implanted into the capsular bag. In the literature a several surgical solution is advised for the treatment of the ectopic lens in patients with Marfan-syndrome. We have performed a successful surgery combined with posterior capsulorhexis in our case. Because of its rarity and special surgical solution, we think this case report is interesting and can be helpful in such cases to be published. Introduction Marfan-syndrome is a genetic disturbance of the connective tissue, in most of the cases (90 %) caused by haploid insufficiency, due to mutation in the fibrillin-1 (FBN-1) gene encoding connective fibres. The remaining 10 % is caused by mutation of the gene encoding transforming growth factor beta (TGF-beta) receptors. Prevalence is 1/5 10,000, according to this about people can be affected with this disease in Hungary. The rate of spontaneous mutation ( de novo ) is 1/20,000. There is no ethnic or geographic difference, and males and females are equally affected. The disease was named after Antoine Marfan ( ) a French paediatrician [6], who described the clinical picture in The gene of the disease was discovered nearly 100 years later by Francesco Ramirez, in New York in 1991 [4, 11] and only five years later in 1996, the first intrauterin genetic test was performed [8]. Diagnosis of Marfan-syndrome is most often made by the typical clinical picture (the genetic tests are quite expensive), but family history is also very important. Marfan-syndrome has several typical symptoms, the central nervous system, the bony system, the skin (striae), the joints, the heart and the vascular system, the lungs (spontaneous pneumothorax), the dental system and the eye can all be affected. The most characteristic mutation is the typically high, thin constitution, long legs, arms and fingers. Scoliosis, protruding or indenting breastbone and flat-foot can be observed quite often, the joints are markedly flexible. Among the cardiac and the vascular symptoms aneurysm of the aorta has to be emphasized, which can lead to 43
2 Komplizierte Katarakt: Op-TEchniken rupture (dissection) of the aorta. Other typical changes are the prolapse of the mitral valve, and closing insufficiency of the aortic valve and heart valves. There are several ophthalmic symptoms of the disorder. Myopia, astigmatism, coloboma of the iris, retinal detachment, cataract and glaucoma can be observed quite often, but the most typical and most well known ophthalmic symptom is the ectopic lens due to the elongation of the zonular fibres, which happens in 80 % of the cases, typically to the upward and temporal direction. Case report A ten years old girl with Marfan-syndrome was admitted to the Department of Ophthalmology Medical University of Pécs, Hungary. Her father had Marfan-syndrome as well. Visual acuity (VA) on the right eye was 0.07 (correction: 15.0 D = 2.0 D cyl 180), VA on the left eye was 0.15 (correction: 14.0 D = 2.0 D cyl 180). Slit-lamp examination revealed deep anterior chamber bilaterally, and an upward and temporally dislocated crystalline lens in the right eye, and an upward and nasally dislocated crystalline lens in the left eye. Intraocular pressure was normal in both eyes, funduscopy in mydriasis showed no pathology in either eye. Pictures of the left eye after pupil dilation are shown on Figure 1. Surgery was performed in general anaesthesia first on the right eye, and 3 months later on the left eye. A conventional capsular tension ring (CTR) was implanted into the right eye, while a Cionni-CTR (Morcher GmbH, Stuttgart, Germany) was implanted into the left eye. The surgical steps of the cataract extraction and IOL implantation of the left eye is discussed in this paper. a b Fig. 1: Slit lamp photos of the left eye after pupil dilatation. With diffuse illumination (a), and with red reflex (b). The elongated zonular fibres can be well seen, the lens is dislocated upward and nasally Due to the age of the patient, not a clear-corneal wound, but a sclero-corneal wound was performed after opening the conjunctiva. A small amount of Tonogen (epinephrin 1 mg/ml) was given into the anterior chamber (AC), by which the pupil could be well dilated. The AC was filled-up by cohesive viscoelastic material (OVD) 44
3 Biró, Szabó, Pámer: Combined Cataract Surgery on a Marfan-syndrome Patient (Case report) and a 5.0 mm diameter capsulorhexis (CCC) was performed with forceps on the center of the lens. This was a specially difficult procedure, because of the dislocation of the crystalline lens, and the CCC seemed to be uncommonly eccentric to the pupil. After a very careful hydrodissection the soft nucleus and the cortex was removed by irrigation-aspiration, without using any phaco energy. The capsular bag and the AC were filled up by cohesive OVD and a Cionni-CTR was introduced into the capsular bag (Figure 2). A 10/0 prolene suture (Ethicon W1713, Johnson & Johnson, UK) with a 16 mm straight needle on the end was tied on the small hook of the Cionni-CTR. This hook bends forward and out of the capsular bag after CTR implantation. The conjunctive was opened, and a half-thick limbal-based scleral flap was performed opposite to the direction of lens subluxation. Under the scleral flap, 1.0 mm from the limbus a 20 gauge needle was introduced through the sclera into the ciliary sulcus under the iris. This needle helped to direct the other 16.0 mm straight needle with the Cionni-CTR on the end to be pulled out through the ciliary sulcus. By pulling the suture the Cionni-CTR was pulled to the ciliary sulcus by which the capsular bag was centered. Because of the young age of the patient a 3.0 mm posterior capsulorhexis (PCCC) was performed with forceps. Through the PCCC a limited anterior vitrectomy was performed to prevent posterior capsule opacification (PCO). A hydrophobic onepiece acrylic intraocular lens (IOL) (AcrySof, Alcon, USA) was implanted into the capsular bag with injector. OVD was carefully removed from the AC, the wound was closed with suture and Cefuroxime (0.1 mg/ml) was given intracamerally. Combined local steroid (1.0 mg/ml dexamethasone) and antibiotic (3.0 mg/ml tobramycine) treatment was (Tobradex suspension eyedrops) applied, tapered weekly through 5 weeks. The postoperative period was uneventful. Distant best corrected VA on the right eye improved to 0.4 (correction: 1.5 D cyl 5), and on the left eye it improved to 0.5 (correction: 0.5 D = 1.0 D cyl 135). Near VA improved a lot as well, it was J2 with +3.0 D correction on the right eye, and J1 with +3.0 D on the left eye. On the slit-lamp photo taken 6 months after surgery both anterior and posterior CCC can be seen well and also the thickened and opacified anterior capsule can be revealed (Figure 3). The optical axis is completely clear, and the young patient is very satisfied with her visual acuity. Discussion For a very long time the literature did not advise to perform any surgery on an ectopic lens in Marfan-syndrome. In 1963 in the Acta Ophthalmologica Hungarica ( Szemészet ) Professor Boros published an article on Marfan syndrome, and he wrote the following: There are not many articles on the surgery of ectopic lens in Marfan-syndrome, and surgical intervention is suggested only in complicated cases such as complete dislocation, secondary glaucoma, recurrent inflammation, when otherwise the eye would go blind. [2] 45
4 Komplizierte Katarakt: Op-TEchniken Fig. 2: Cionni capsular tension ring (CTR). Diameter of the ring is 12.0 mm, it is made of polymethyl-methacrylate (PMMA). The small hook of the CTR bends forward and out of the capsular bag. Fig. 3: Slit lamp photo of the left eye after pupil dilatation, taken 6 months after the surgery. The thickened and opacified anterior capsule is well seen, such as the hook of the Cionni CTR at V o clock on which the 10/0-s prolene suture was tightened. The suture was stitched through the ciliary sulcus, the CTR and the capsular bag was pulled to its place and centered. From the 1970s, more and more articles deal with the surgical solution of the subluxated lens [12]. In 1993, phacoemulsification was advised by Adank et al. [1]. The use of the CTR was first suggested in 2000 [3], and the use of the Cionni CTR in 2003 [9]. Iris fixation of foldable IOL was advised in 2006 [5], and fixation of the IOL behind the iris was published in 2008 [13]. In 2010 pars plana lensectomy and pars plana vitrectomy was suggested for the treatment of ectopic lens in Marfan-syndrome [10]. Some suggest using iris-hooks in the area of elongated zonules for the temporary fixation of the capsule after performing the CCC [14]. The next steps of the surgery especially the phacoemulsification will be performed much easier in this way, until the CTR is inserted. We did not have to apply this technique in our case due to the young age, and the soft nucleus of the patient. In the 2012 year annual congress of the Hungarian Cataract and Refractive Society (SHIOL) there was a lecture by Hungarian authors on the Surgical solution of the subluxated lens in Marfan-syndrome [7]. With the surgical technique described above the centration of the IOL and the optical rehabilitation of the Marfan-syndrome patients can be successfully achieved. 46
5 Biró, Szabó, Pámer: Combined Cataract Surgery on a Marfan-syndrome Patient (Case report) Literatur 1. Adank AM, Hennekes R: Phacoemulsification of the subluxated or atopic lens. Bull Soc Belge Ophtalmol 1993;249: Boros B: The possible complications of lens extraction in Marfan-syndrome. Acta Ophthalmologica Hungarica 1963;100: Dietlein TS, Jacobi PC, Konen W, Krieglstein GK: Complications of endocapsular tension ring implantation in a child with Marfan s syndrome. J Cataract Refract Surg 2000;26: Dietz HC, Saraiva JM, Pyeritz RE et al.: Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Hum Mutat 1992;1: Dureau P, de Laage de Meux P, Edelson C, Caputo G: Iris fixation of foldable intraocular lenses for ectopia lentis in children. J Cataract Refract Surg 2006;32: Enciso M, Garcia L: Marfan s syndrome. Am J Ophthalmol 1948;31: Gyetvai T, Facskó A: Surgical solution of cataract in Marfan-syndrome. 23rd Congress of the Hungarian Cataract and Refractive Society (SHIOL) March 29 31, Budapest, abstract book pp Milewicz DM: Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV. Curr Opin Cardiol 1998;13: Review 9. Moreno-Montañés J, Sainz C, Maldonado MJ: Intraoperative and postoperative complications of Cionni endocapsular ring implantation. J Cataract Refract Surg 2003;29: Oh J, Smiddy WE: Pars plana lensectomy combined with pars plana vitrectomy for dislocated cataract. J Cataract Refract Surg 2010;36: Ramirez F, Pereira L: The fibrillins. Int J Biochem Cell Biol 1999;31: Review 12. Sellyei LF Jr, Barraquer J: Surgery of the ectopic lens. Ann Ophthalmol 1973;5: Wolter-Roessler M, Küchle M: Correction of aphakia with retroiridally fixated IOL. Klin Monatsbl Augenheilkd 2008;225: Wu WJ, Zheng DY, Zheng YF, Cai XY: Iris hooks and modified capsular tension ring for subluxation lens in patients with Marfan s syndrome. Zhonghua Yan Ke Za Zhi 2007;43:
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