title: Bilateral aniridia lenticular coloboma and snowflake retinal degeneration.
abstract: A 6-year-old boy presented with bilateral aniridia associated with lens coloboma and snowflake retinal degeneration. Ophthalmologic examination revealed bilateral corneal peripheral epithelial thickening and aniridia. Additionally, the patient had lenticular coloboma and snowflake retinal degeneration in both eyes. Intraocular pressure was 22 mm Hg bilaterally. The patient also had pendular nystagmus. Uncorrected visual acuity was counting fingers at 2 meters for both eyes, but improved to 0.2 and 0.05, respectively, with correction. Congenital aniridia has been reported with various ophthalmic pathologies, but this is the first case to display bilateral lenticular coloboma and snowflake retinal degeneration associated with aniridia.
authors.affiliation: Inonu University, Medical Faculty, Turgut Ozal Medical Center, Research Hospital, Malatya, Turkey.
authors.forename: Selim
authors.initials: S
authors.lastname: Doganay
authors.forename: Sinan
authors.initials: S
authors.lastname: Emre
authors.forename: Penpegül
authors.initials: P
authors.lastname: Firat
mesh_terms: D015783:Aniridia / Q000150:complications* / Q000175:diagnosis; D002648:Child; D003103:Coloboma / Q000150:complications* / Q000175:diagnosis; D007839:Functional Laterality; D006801:Humans; D007429:Intraocular Pressure; D007498:Iris / Q000002:abnormalities*; D007908:Lens, Crystalline / Q000002:abnormalities*; D008297:Male; D012162:Retinal Degeneration / Q000150:complications* / Q000175:diagnosis; D014792:Visual Acuity