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Wydanie 1/2007

Obraz zmian w przednim odcinku oka we wrodzonym braku tęczówki

Anterior Segment Changes in Congenital Aniridia

Edward Wylęgała^1,2, Anna Nowińska¹, Wojciech Mańkowski¹, Magdalena Mrożkiewicz-Salomon¹, Ilona Pawlicka¹

¹Oddział Okulistyki Okręgowego Szpitala Kolejowego, Samodzielny Publiczny Zakład Opieki Zdrowotnej w Katowicach
Ordynator: dr hab. n. med. Edward Wylęgała
²Zakład Pielęgniarstwa i Społecznych Problemów Medycznych Śląskiej Akademii Medycznej w Katowicach
Kierownik: dr hab. n. med. Edward Wylęgała

Summary: Aniridia is a rare familial or sporadic disorder which primarily involves not only the iris, but also the cornea, angle structures, lens, optic nerve, and fovea. Mutations of the Pax 6 gene on band 11p13, which is important for eye development, have been identified in families with members affected by aniridia. Purpose: To present a pedigree of patients and describe anterior segment abnormalities in familiar congenital aniridia. Patients and methods: We have studied 5 members of the family that has been presenting cases of congenital aniridia for three generations. Detailed examination including family history and inheritance type, visual acuity testing, slit-lamp examination and anterior segment photography was performed. Results: Anterior segment abnormalities were seen in all 10 aniridic eyes (5 patients). Corneal changes were seen in 8 eyes (4 patients) and included: vascular pannus formation, corneal opacity and corneal epithelial erosions. Glaucoma was present in 8 eyes (4 patients). 7 eyes (4 patients) had previous history of cataract surgery. Cataract and lens subluxation was diagnosed in 3 eyes. Conclusions: The study confirms dominant autosomal inheritance pattern of congenital aniridia with variable expression among family members. Although the most apparent clinical finding was subtotal absence of iris tissue, other anterior segment abnormalities were seen in all 10 aniridic eyes (5 patients). Therefore aniridia should be described as a global eye disorder in witch iris hypoplasia is only the most evident clinical sign

Keywords: aniridia, autosomal dominant inheritance, corneal changes.

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