Identification of a New Genetic Mutation Associated With Peters Anomaly

Conclusions: PA might be associated with the mutation c.181_189delinsAGGTTTCCG; p.Gly61Arg in the COL4A1 gene. The COL4A1 gene encodes for collagen IVα1, an essential component of basal membranes, and mutations are associated with an increased risk for renal and cerebrovascular disorders and stroke. This should be considered when advising and monitoring patients.
Source: Cornea - Category: Opthalmology Tags: Case Report Source Type: research