Abstract

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