Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy

Abstract

Polymicrogyria is a type of cortical dysplasia with cortical organizational defect. Bilateral polymicrogyria are distinct with genetic basis in a subset. We hereby report a case of bilateral frontal polymicrogyria (BFP) in association with chorioretinal dystrophy and ectopia lentis (EL) in a 26-year-old lady born of a consanguineous parentage. Her male sibling also had chorioretinal dystrophy and EL. This combination of autosomal recessive inheritance has not been reported earlier in the literature and suggests a role of connective tissue genes in BFP.

Keywords

• Autosomal recessive
• chorioretinal-dystrophy
• ectopia lentis
• frontal-polymicrogyria