Rod-Sparing Retinopathy – Unusual variant in Bardet–Biedl Syndrome

  • Sowmya Raveendra Murthy
  • Keerthi Gunda
Keywords: Bardet–Biedl syndrome, obesity, polydactyly, retinitis pigmentosa, rod sparing

Abstract

Bardet–Biedl syndrome (BBS) is a genetic disorder characterized by retinal  dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning  difficulties, and hypogonadism. Retinal dystrophy in the form of rod-cone  dystrophy is the most common diagnostic handle prompting investigation for BBS. We report a novel case of rod sparing or a cone-selective variant of  retinopathy in BBS. To the best of our knowledge, this is the first report of such a case from India.

Keywords: Bardet–Biedl syndrome, obesity, polydactyly, retinitis pigmentosa, rod sparing

Published
2019-02-08
Section
Articles

Journal Identifiers


eISSN: 2468-8363
print ISSN: 0189-9171