Abstract

P 218

Aniridia in family history and ocular phenotype in relatives

Anna-Christina Schwarz1, Eugen Gramer1, Gwendolyn Gramer2
1Universitäts-Augenklinik Würzburg; 2Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg, Heidelberg

Objective
Aniridia (AI) is a rare hereditary (PAX6 gene; 11p13) panocular disorder (prevalence 1:100 000) which primarily involves not only the iris, but also e.g. the retina, optic nerve, lens and cornea. Most patients with AI present a severe deterioration of visual acuity as a result of nystagmus, glaucoma, cataract, corneal opacities or retinal hypoplasia.
Purpose:
1. Evaluation of frequency of AI in family history (FH) in 30 patients with AI
2. Case reports: To report the ocular phenotype in patients with AI within two families with AI
Methods
1. Retrospective analysis of 30 consecutively examined patients with AI in order to evaluate
the frequency of aniridia in FH
2. Case reports: Comparison of ocular phenotype in relatives with AI within two families
Results
10 out of 30 patients (33%) reported AI in FH with one to four relatives being affected. Within two families, affected relatives could be examined:
Family 1:
Four affected relatives of two generations: two brothers, one sister and her only son all present bilateral complete AI, luxation of the lens and elevated IOP; the 54 year old son was found to have the most moderate luxation of the lens and the lowest IOP (28mmHg).
One of the brothers was additionally diagnosed with congenital micropapilla, pendular nystagmus and ptosis.
Family 2:
Three affected relatives of three generations: The index patient has bilateral complete AI, cataract, luxation of the lens, glaucoma and corneal opacities. Her father had bilateral AI. Her son is not affected, and her 27 year old daugther has bilateral ectropium of the uvea and partial atrophia of the optic nerve without elevated IOP. Two brothers and two sisters of the index patient are not affected.
Conclusions
1. A great variability of phenotype could be found in patients with AI, even within the same
family. 
2. Due to a highly variable expression of AI in relatives, a thorough examination of family
members is required to provide early diagnosis, amblyopia prophylaxis and genetic councelling.

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