Ocular pathologies by change of gene SOX2
The ocular pathologies by change of gene SOX2 include/understand the absence of eye or Anophtalmie and/or a the recognizable dice birth or detectable Microphtalmie severe and bilateral at the time of echography anténatale. The other described anomalies are: a Atrésie of the esophagus, cerebral malformations and anomalies of the external genitals at the boy.
The clinical characteristics of this disease are:
-
Anophtalmie or bilateral microphtalmy
- Disorder of the training
- ponderal Growth post native insufficient
- Crytorchidie or micro penis among boys
It is a very rare pathology since only ten cases are currently known.
Sources
- David R Fitzpatrick, SOX2-Related Eye Disorders in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2006
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