isolated clinical anophthalmia

Microphthalmia, AR

Clinical Characteristics
Ocular Features: 

The most consistent feature associated with mutations in the VSX2 gene is, of course, microphthalmia/anophthalmia.  Other anomalies include dysplasia of the retina, cataracts and/or dislocated lenses, and iris anomalies ranging from hypoplasia to colobomas and absence of the pupils. Colobomas may also involve the posterior uveal tract as well as the optic nerve. The majority of patients are blind.   

Systemic Features: 

No systemic features are associated.


This is an autosomal recessive disorder resulting from mutations in the VSX2 (formerly CHX10) gene located at 14q24.3.  The gene is expressed in progenitor cells of the developing neuroretina and in inner nuclear cells of the adult retina.   Most parents are consanguineous.

Autosomal recessive
Treatment Options: 

None other than rehabilitation.

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