|
?:definition
|
-
A syndromic developmental defect of the eye with characteristics of dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. There is evidence the syndrome is caused by homozygous mutation in the ASPH gene on chromosome 8q12.
|
![[This page as RDF]](https://research.tib.eu/covid-19/static/rdf-icon.gif){kind=icon}