Dr.Shrishti Mishra

Dr.Vikrant Sharma

Abstract

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases that leads to rod and cone degeneration. It affects 1 in 4000 individuals worldwide, occurs in isolation or in association with systemic disease(syndromic). Here we describe case of a 1 month old male who has been admitted with a diagnosis of hypoxic ischemic encephalopathy II (HIE II) with sepsis associated with ostium secundum and congenital nephrotic syndrome. Both his parents are legally blind (as per national guidelines of visual impairment) owing to a diagnosis of B/L RP in the mother and corneal opacity in the father (due to stromal dystrophy in right eye and leucoma in left eye). Whole genome sequencing of the child followed by SANGER sequencing of the parents was done to confirm the segregation analysis for c.439 A>T in PRPF8 gene which showed the same gene(PRPF8) in heterozygous state Chr 17:c.439A>T(variant) to be positive in the mother.