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Klin Monbl Augenheilkd 2023; 240(04): 544-548
DOI: 10.1055/a-2009-0498
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SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland

SPATA7-assoziierte juvenile Retinitis pigmentosa in 2 Brüdern aus einer konsanguinen irakischen Familie in der Schweiz
Faady Yahya
1   Department of Ophthalmology, University of Basel, Basel, Switzerland
2   University Hospital Basel Eye Clinic, Basel, Switzerland
,
Pascal Escher
3   Department of Ophthalmology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
4   Department of BioMedical Research, University of Bern, Bern, Switzerland
,
Carlo Rivolta
1   Department of Ophthalmology, University of Basel, Basel, Switzerland
5   Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland
6   Department of Genetics and Genome Biology, University of Leicester, Leicester, UK
,
Hendrik Pn. Scholl
1   Department of Ophthalmology, University of Basel, Basel, Switzerland
2   University Hospital Basel Eye Clinic, Basel, Switzerland
5   Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland
,
Francoise Roulez
1   Department of Ophthalmology, University of Basel, Basel, Switzerland
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Introduction

Inherited childhood-onset retinal dystrophies comprise Leber congenital amaurosis (LCA; OMIM #204 000) and juvenile retinitis pigmentosa (RP; OMIM #268000). LCA is considered the more aggressive manifestation due to early loss of central vision and subsequent development of nystagmus, whereas juvenile RP has a later onset in childhood and initially affects the periphery [1], [2]. In 2009, SPATA7 was first identified as a causative gene for both LCA and juvenile RP (OMIM# 604 232) [3].



Publication History

Received: 13 October 2022

Accepted: 21 December 2022

Article published online:
25 April 2023

© 2023. Thieme. All rights reserved.

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