Research Paper: 

2019 Nau

Date Published : 

05/22/2019

Summary

COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective

Excerpt

COL4A1 mutations present with a spectrum of clinical phenotypes often involving the cerebrovascular and ophthalmic systems. We present 2 cases of COL4A1 mutations that presented with congenital cataracts and porencephaly. Both patients had posterior cortical cataracts and radiographically defined bilateral posterior lenticonus. Considering the long- term clinical implications of these mutations, posterior cortical cataracts, bilateral posterior lenticonus, and porencephaly should raise clinical suspicion for COL4A1 mutations.

COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective
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