Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

doi:10.1016/j.ophtha.2017.03.010

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Article

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

Ophthalmology - 1 Jul 2017

Pierrache Laurence H M, Kimchi Adva, Ratnapriya Rinki, Roberts Lisa, Astuti Galuh D N, Obolensky Alexey, Beryozkin Avigail, Tjon-Fo-Sang Martha J H, Schuil Jose, Klaver Caroline C W, Bongers Ernie M H F, Haer-Wigman Lonneke, Schalij Nicoline, Breuning Martijn H, Fischer Gratia M, Banin Eyal, Ramesar Raj S, Swaroop Anand, van den Born L Ingeborgh, Sharon Dror, Cremers Frans P M

Abstract excerpt

PURPOSE: To identify the genetic cause of and describe the phenotype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can be associated with pseudocoloboma. DESIGN: Case series. PARTICIPANTS: Seven patients from 4 unrelated families with arRP, among whom 3 patients had bilateral early-onset macular pseudocoloboma. METHODS: We performed homozygosity mapping and whole-exome sequencing in 5...

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PMID: 28412069
DOI: 10.1016/j.ophtha.2017.03.010
PMCID: PMC5868413

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