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Home , Aniridia, Aphakia, Buphthalmos

AND GIANT RETINAL TEARS IN

J. G. F. DOWLER, C. J. LYONS and R. J. COOLING London

SUMMARY At the age of 8 years the intraocular pressure was

Clinical findings in aniridia may include corneal normal in both eyes. Early was epitheliopathy, , subluxation and catar­ noted in the left eye. The vision in the left eye was act, and hypoplasia of the fovea and . We finger counting. Ocular axial lengths were 27.3 mm report the occurrence of retinal detachment due to right, 25.8 mm left. giant tears in four eyes of three children with aniridia. All eyes were buphthalmic and none had undergone Patient 2 lens or posterior segment surgery. All operated eyes Autosomal dominant aniridia was diagnosed at birth underwent vitreolensectomy and silicone oil injection; and the left eye noted to be enlarged. At 5 months useful vision was restored in two eyes. The pathogen­ the left corneal diameter was 13 mm and left esis and management of this previously unreported -7 dioptres. At 2 years subluxation complication are discussed. of the left lens was noted. The best recorded visual acuities were 4/60 right and 3/60 left. Intraocular pressures were 18 mmHg right, 24 mmHg left with a CASE REPORTS cup:disc ratio of 0.6 in the left eye. Patient 1 At 5 years a 1200 GRT and retinal detachment Sporadic aniridia and were diagnosed were noted in the left eye. Vitreolensectomy with at 6 weeks of age. At 4 months bilateral trabecu­ silicone oil and endolaser retinopexy produced lotomy was carried out with successful control of retinal reattachment and the oil was removed 5 intraocular pressure. Bilateral lens subluxation was weeks after surgery. noted at 1 year, at which time corneal diameters were At 6 years, the left vision was restored as 3/60 with 13.75 mm, 12.5 mm and refraction was -6.25, -10.25 marked (left , right ). right and left respectively. A right convergent squint Extensive corneal pannus was noted at the most was present with manifest . The best recent examination. The axial length of the left eye recorded visual acuities were 2/60 in each eye. was 26.1 mm. At 6 years of age, retinal detachment with a 3600 giant retinal tear (GRT) was noted in the right eye Patient 3 with severe proliferative vitreoretinopathy (PVR). Autosomal dominant aniridia was diagnosed at birth. Following vitreolensectomy, silicone oil exchange, No surgery was undertaken. At 12 years of age the endolaser and retinal tacking, the was child presented to Moorfields with a history of recent reattached but 1 month later redetached due to deterioration of vision in the left eye. Nystagmus, PVR and was deemed inoperable. No prophylaxis corneal pannus and bilateral upward lens subluxation was performed on the left eye. were noted. Intraocular pressure was 30 mmHg in At 7 years of age, retinal detachment with a 3000 the right eye. The left eye was found to have an GRT occurred in the left eye and was treated with inoperable total retinal detachment with a GRT and vitreolensectomy, heavy liquid injection, silicone oil PVR. exchange and endolaser retinopexy. The retina remained flat and silicone oil removal was combined DISCUSSION with epimacular membrane peeling 6 weeks later. Aniridia represents a spectrum of disorders with

Correspondence to: J. G. F. Dowler, FRCS, Moorfields Eye hypoplasia. It may occur sporadically or be inherited Hospital, City Road, London ECIV 2PD, UK. in an autosomal dominant fashion. The majority of

Eve (1995) 9.268-270 © 1995 Roval College of Ophthalmologists GIANT RETINAL TEARS IN ANIRIDIA 269 sporadic forms represents new autosomal dominant examination of a patient with aniridia and buphthal­ . Some sporadic forms are associated with mos. No such abnormalities were, however, noted in llp13 deletion and Wilms' tumour and a variety of the eyes in this report. Finally, an abnormality of systemic syndromes exist.1 The typically anterior vitreous might be inferred from the presence shows progressive superficial vascular ingrowth of lens subluxation in all our cases. from the limbus. Polar or cortical may Myopia predisposes to retinal detachment, and in develop, and the lens may subluxate, perhaps as a children may be associated with giant tears; in a result of a molecular abnormality of zonule? series of juvenile detachments reported by Daniel Glaucoma, although not present at birth, appears in et al.6 giant tears occurred in 5 of 30 eyes with childhood in up to 75% of cases. Optic nerve myopia unassociated with primary vitreoretinal hypoplasia, foveal hypoplasia, refractive error, degeneration. This predisposition is also associated nystagmus and contribute to poor vision. with the ocular enlargement of buphthalmos. Of 19 Neither retinal detachment nor giant retinal tears buphthalmic eyes with detachments described by have previously been reported as complications of Cooling et aC 2 had giant breaks and 2 giant dialyses. aniridia. Possible factors in the pathogenesis of All the eyes we report were buphthalmic; corneal retinal detachment in aniridia may include prior diameters were enlarged, phakic refractions were surgery, some vitreoretinal abnormality related to myopic, and axial lengths were increased. Ocular aniridia, and buphthalmic ocular enlargement. enlargement may thus predispose to retinal detach­ No eye in this report had undergone lensectomy or ment in aniridia. surgery which involved vitreous manipulation, and it Giant retinal tears and ocular enlargement occur therefore seems unlikely that prior surgery was a in children with the congenital megalophthalmos factor in the genesis of detachment in these cases. syndrome (CMS) as described by Scott.8,9 CMS Lens surgery in an iridic eyes may, however, predis­ differs from the cases under study in that the myopia pose to retinal detachment; we are aware of two is congenital rather than acquired, characteristic siblings with autosomal dominant aniridia, both of vitreous abnormalities are present, and the inci­ whom developed traction tears and retinal detach­ dence of detachment is far higher. Giant retinal tears ment following lensectomy. may also arise in children with other congenital Peripheral retinal abnormalities have been ocular abnormalities. Hovland et al.lO described 8 described in aniridia, and it is possible that such cases of bilateral retinal detachment caused by giant changes may be linked to detachment. Jesburg3 retinal tears associated with nasal of lens noted the occurrence of multiple, small, circumfer­ and zonule; there were, however, no abnormalities of entially distributed white spots in the post-oral retina the uveal tract. of 3 patients with aniridia; these had the staining Symptomatic visual loss occurred in all cases attributes of lipid. These appearances were identified reported here, and this symptom should suggest the in all our cases (Fig. 1). White spots, however, are need for examination of the posterior segment in common in aniridia but retinal detachment is rare. In aniridic patients. , nystagmus, strabis­ a histological case study of aniridia with gonado­ al.4 mus, , lens subluxation and blastoma and mental retardation, Anderson et may, however, impair visualisation of the retina, and described an area of pathological vitreoretinal B-scan ultrasonography may be required. attachment in which small retinal strands entered Technical constraints on retinal reattachment the anterior vitreous. Vitreoretinal abnormalities surgery in buphthalmic eyes may be include poor were also noted by Seefelde� on histological visualisation of the peripheral retina due to corneal opacity, the presence of proliferative vitreoretino-

Fig. 1. White spots in the pre-equatorial retina of an Fig. 2. Keratopathy in an aphakic an iridic eye containing an iridic eye. silicone oil. 270 J. G. F. DOWLER ET AI..

pathy and subretinal proliferations, and the need to retinal surgery in this context appears to offer a maintain intraocular pressure during surgery at a worthwhile prospect of retaining useful vision. level appropriate to both low scleral rigidity and Key words: Aniridia, Buphthalmos, Giant retinal tear, Retinal compromised optic nerve perfusionY Giant tears are detachment. associated with a high. risk of proliferative vitreo­ , and visualisation difficulties may be compounded by peripheral corneal pannus, lens REFERENCES opacity or lens subluxation. These considerations 1. Francois J, Verschragen-Spae MR, De Sutter E. The led to the use of vitreolensectomy with silicone oil aniridia-Wilms tumour syndrome and other associa­ injection in all cases in this report. tions of aniridia. Ophthalmol Pediatr Genet 1982;1:125-38. Hypotony or raised intraocular pressure may occur 2. Nelson LB, Spaeth GL, Nowinski TS, et al. Aniridia: a following retinal reattachment surgery in buphthal­ review. Surv OphthalmoI1984;28:621-42. mic eyesY In aphakic aniridic eyes, reformation of 3. Jesburg DO. Aniridia with retinal lipid deposits. Arch the anterior chamber following silicone oil injection OphthalmoI1962;68:331-6. et al. poses particular problems and glaucoma may be 4. Anderson SR, Geertinger D, Larsen WM, Aniridia, cataract and gonadoblastoma in a mentally exacerbated. Filtration surgery in this context is retarded girl with deletion of chromosome It likely to carry a roor prognosis because of Ophthalmologica 1978;176:171-7. conjunctival scarring.! In the present series oil was 5. Seefelder R. Die Aniridie als eine Entwicklungschem.­ removed from 2 eyes within 6 weeks of surgery, but mung der Retina. Graefes Arch Ophthalmol 1909; was not removed from the eye in which surgery had 70:65-87. 6. Daniel R, Kanski JJ, Glasspool MG. Retinal detach­ been unsuccessful. Intraocular pressure control has, ments in children. Trans Ophthalmol Soc UK however, remained stable in all eyes to date. 1974;94:325-34. Pre-existing corneal opacity associated with glau­ 7. Cooling RJ, Rice NSC, McLeod D. Retinal detachmem coma, peripheral aniridic corneal pannus, silicone oiV in congenital glaucoma. Br J Ophthalmol 1980; endothelial contact,13 post-operative corneal decom­ 64:417-21. 8. Scott JD. Congenital myopia and retinal detachment. pensation and band keratopathy may contribute to Trans Ophthalmol Soc UK 1980;100:69-71. keratopathy following retinal reattachment surgery 9. Scott JD. Duke Elder Lecture: Prevention and in aniridic eyes. In this series band keratopathy and perspective in retinal detachment. Eye 1989;3:491-515. more marked corneal pannus developed post­ 10. Hovland KR, Schepens CL, Freeman HM. Develop­ operatively in 2 eyes, and the most severe kerato­ mental giant retinal tears associated with lens colC)­ boma. Arch OphthalmoI1968;80:325-31. pathy (Fig. 2) occurred in the eye from which silicone 11. Wiedemann P, Heimann K. Retinal detachment in eyes oil was not removed, which argues for early removal with congenital glaucoma. Retina 1992;12:S51-4. of oil where indicated. 12. Flurouracil Filtering Surgery Study Group. Fluorour­ Reattachment of the retina with recovery of acil filtering surgery: one year follow up. Am J ambulatory vision was achieved in 2 of 3 operated OphthalmoI1989;108:625-35. 13. Leaver PK, Grey RHB, Gamer A. Silicone oil eyes. In these young patients predetachment vision injection in the treatment of massive periretinal was poor and retinal detachment or other sight­ retraction. II. Late complications in 93 eyes. Br J threatening pathology uniformly bilateral. Vitreo- OphthalmoI1979;63:361-7.