Premium
Update on ocular surface disorders in aniridia
Author(s) -
BREMONDGIGNAC D
Publication year - 2013
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2013.1421.x
Subject(s) - aniridia , pax6 , ophthalmology , medicine , ptosis , nystagmus , glaucoma , biology , genetics , gene , radiology , transcription factor
Aniridia is a rare bilateral ocular disorder occurring at a frequency of approximately 1 in 80 000. Aniridia is a panophthalmic disease. About one third of these aniridia are sporadic, with many variable expressivities of the features. PAX6 gene anomalies with 11p13 mutations or deletion are involved in aniridia. PAX6 mutations result in alterations in corneal cytokeratin expression, cell adhesion and glycoconjugate expression. Ocular anomalies in aniridia commonly associates cataract, glaucoma, nystagmus, ptosis and ocular surface. Mechanism of limbal stem cell insufficiency will be exposed and often correlated to reduced corneal sensitivity. Therapeutic options will be discussed.