DEC 13, 2013
This case series reports a five-generation family with ptosis, cataract, iris hypoplasia and gradual corneal opacification occurring in association with a PAX6 mutation.
The authors say this is the first report of this particular constellation of ocular signs occurring in association with a PAX6 mutation.
The report includes 14 family members: eight affected and six unaffected. They all underwent complete ophthalmological assessment, anthropometry, assessment of glycemic status and genetic analysis of the PAX6 gene.
Affected family members had ptosis with reduced levator function, cataract, iris hypoplasia, and corneal vascularization and opacification. There was no association with anthropometric features, but affected subjects had worse glycemia than unaffected ones, which may be related to the known role of PAX6 in development of the pancreas.
The authors note that there are only two other reports in the literature describing a similar constellation of ophthalmological signs to those found in this family. However, the cases in this series are differentiated by the absence of microcornea and glaucoma. None of the earlier reports described any systemic features associated with their pedigrees, and genetic testing was not undertaken.