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NR. 1 (I)/2007
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Obraz zmian w
przednim odcinku oka we wrodzonym braku tęczówki
Anterior Segment Changes in Congenital Aniridia
Edward Wylęgała1,2,
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 ¦l±skiej Akademii Medycznej w Katowicach
Kierownik: dr hab. n. med. Edward Wylęgała |
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| 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 |
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| Key words: |
aniridia, autosomal
dominant inheritance, corneal changes. |
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