Crimson Publishers Publish With Us Reprints e-Books Video articles


Medical & Surgical Ophthalmology Research

Homozygous INPP5E Mutation Associated Joubert Syndrome with Retinitis Pigmentosa- A Case Report

  • Open or CloseNatalie Huang1*and Amirfarbod Yazdanyar2

    1Department of Ophthalmology and Visual Sciences, State University of New York Upstate Medical University, USA

    2Department of Ophthalmology and Mohawk Valley Retina, East Syracuse, USA

    *Corresponding author:Natalie Huang, State University of New York Upstate Medical University, 750 E Adams Street Syracuse, NY 13202, USA

Submission: June 11, 2022; Published: June 30, 2022

DOI: 10.31031/MSOR.2022.03.000564

ISSN: 2578-0360
Volume3 Issue3


Purpose:To present a case with INPP5E mutation associated with Joubert syndrome and retinitis pigmentosa (RP).
Methods: A 11-year-old girl presented with progressive vision loss, lack of coordination, and muscular weakness. Vision acuity was 20/60 bilaterally. Dilated fundus exam revealed temporal disc pallor, retinal pigmentary epithelial mottling and atrophy, and diffuse white specks. Fundus autofluorescence showed diffuse peripheral hypo autofluorescence and a ring of hyper autofluorescence in the macula. Electroretinography showed decreased cone and rod responses.
Results: Genetic test was positive for INPP5E c.1073C>T (p. Pro358Leu) homozygous mutation.
Conclusions and Importance: INPP5E is one of many genes contribute to Joubert syndrome. A novel homozygous mutation in INPP5E (c.1073C>T (p. Pro358Leu) can be associated with Joubert syndrome combined with RP.

Keywords:Joubert syndrome; Retinitis pigmentosa; INPP5E; Ciliopathy

Get access to the full text of this article