A novel homozygous c.1154+3_1151+6delAAGT mutation in CERKL causes autosomal recessive retinitis pigmentosa with a special phenotype in a consanguineous Tunisian Family

Purpose The aim of our study was to assess the clinical phenotype and to determine the causative gene in a Tunisian family with an autosomic recessive retinitis pigmentose (arRP). Methods All accessible members of a consanguineous Tunisian family were included and underwent full ophthalmic examinati...

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Bibliographic Details
Published in:	Acta ophthalmologica (Oxford, England) Vol. 94; no. S256
Main Authors:	El Matri, L., Falfoul, Y., Habibi, I., Turki, A., Maamouri, R., El Matri, K., Chebil, A.
Format:	Journal Article
Language:	English
Published:	Malden Wiley Subscription Services, Inc 01.10.2016
Subjects:	Acuity Atrophy Blindness Electroretinograms Gene deletion Genotype & phenotype mRNA Mutation Nyctalopia Ophthalmology Photography Pigmentation Retina Retinal degeneration Retinitis Retinitis pigmentosa Splicing
ISSN:	1755-375X, 1755-3768
Online Access:	Get full text
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