A Novel Mutation Confirm MFRP a the Gene Cauing the yndrome of Nanophthalmo–Renititi Pigmentoa–Foveochii–Optic Dik Druen Original Reearch Article

Purpoe To decribe the clinical and genetic characteritic of the econd family with a recently decribed receive yndrome characterized by poterior microphthalmo, retiniti pigmentoa, foveochii, and optic dik druen. Deign Obervational cae report. Method Three affected ubject and one healthy ibling from a conanguineou marriage from pain were tudied. Complete ophthalmologic examination including A- and B-mode ultraonography (U), electroretinography (ERG), fluorecein retinal angiography (FA), and optical coherence tomography (OCT) were performed in each individual. Genetic analyi included polymerae chain reaction amplification and direct nucleotide equencing of the complete MFRP gene. Reult All three affected ibling had bilateral hortening of the poterior ocular egment aociated with high hyperopia and normal anterior egment dimenion. Bet-corrected viual acuity ranged from 20/200 to 20/60. Funducopy, ERG, and FA were compatible with retiniti pigmentoa, and B-mode ultraound howed optic dik druen. OCT analyi revealed outer retinal layer chii with abence of foveal pit. Inheritance of thi yndrome followed an autoomal receive pattern. Molecular analyi revealed a novel homozygou 1-bp deletion (c.498delC) in exon 5 of MFRP, predicting a prematurely truncated protein (P166fX190). A healthy iter demontrated to be a carrier of the mutation. Concluion We confirmed that the yndrome of poterior microphthalmo, retiniti pigmentoa, foveochii, and optic dik druen contitute a ditinct autoomal receive entity. The novel framehift mutation identified in the family decribed here validate MFRP a the gene reponible for thi particular dieae, which characteritically involve tructure located at the poterior egment of the eye.