DR.GULNAZ NIKHAT

DR.JULIE, DR. PRERNA GARG

Abstract

Axenfeld-Reiger syndrome (ARS), a type of Anterior segment dygenesis (ASD) is an Autosomal dominant disorder with a spectrum of ocular and systemic anomalies often associated with secondary glaucoma in 50% of cases.

A 25 year old male presented with ocular features of posterior embryotoxon,Iris hypoplasia along with systemic features of facial,dental anomalies and redundant periumbilical skin suggestive of ARS.However,Iridocorneal adhesions, dense corneal opacity with defect in the posterior stroma and adult onset bilateral buphthalmos suggested an overlapping features with other ASD like Peter’s anomaly and isolated trabeculodysgenesis.

Mutation in PITX2 and FOXC1 genes are mainly found to be associated with ARS. In our case,Medical exome sequencing revealed no mutations in these genes or other associated genes with ASD. A benign and heterozygous variant was found in MFRP gene at chr11:119213688, with the nucleotide position c.924C>A and amino acid position p.P308P.