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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
ISSN: 2578-0360Volume3 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
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