Universität zu Köln

Khan, Arif O., Al Rashaed, Saba, Neuhaus, Christine, Bergmann, Carsten and Bolz, Hanno J. (2016). Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation. Br. J. Ophthalmol., 100 (2). S. 209 - 216. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

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Abstract

Background Dominant mutations in peripherin (PRPH2) are associated with a spectrum of retinal dystrophy phenotypes, many of which are adult onset and involve the macula. Recessive PRPH2 mutations cause retinal dystrophy associated with prominent maculopathy in adulthood; however, the presenting childhood phenotype has not been defined. We characterise this phenotype. Methods Retrospective case series of families harbouring bi-allelic PRPH2 mutations (2010-2014). Results Three children (two families; assessed at 2 years old) and two adults (one family; assessed at 24 and 35 years old) with homozygous PRPH2 mutations (c.497G>A (p.Cys166Tyr) or c.136C>T (p.Arg46(star)))all had infantile nystagmus and decreased vision noted soon after birth and a history of staring at lights during infancy (photophilia). The three children had high hyperopia, a normal or near normal fundus, and non-recordable electroretinographies (ERGs). The two adults had slight myopia, macular and peripheral retinal changes, and non-recordable ERGs. All five available carrier parents had macular+/-peripheral retinal findings, although they considered themselves asymptomatic except for one mother who had developed visual loss in one eye at 48 years old and had an associated subfoveal lesion. Conclusions Bi-allelic PRPH2 mutations cause a distinct Leber congenital amaurosis phenotype in infancy; affected adults have prominent maculopathy. Heterozygous parents can be asymptomatic but have clinically obvious macular phenotypes with or without peripheral retinal findings, which can be helpful in making the genetic diagnosis in affected children. The difference between the heterozygous and homozygous phenotypes is likely related to gene product dosage effect.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Khan, Arif O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Al Rashaed, Saba UNSPECIFIED UNSPECIFIED UNSPECIFIED Neuhaus, Christine UNSPECIFIED UNSPECIFIED UNSPECIFIED Bergmann, Carsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, Hanno J. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-285584
DOI:	10.1136/bjophthalmol-2015-306844
Journal or Publication Title:	Br. J. Ophthalmol.
Volume:	100
Number:	2
Page Range:	S. 209 - 216
Date:	2016
Publisher:	BMJ PUBLISHING GROUP
Place of Publication:	LONDON
ISSN:	1468-2079
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language RETINAL DEGENERATION; RETINITIS-PIGMENTOSA; RDS GENE; DYSTROPHY; THERAPY; MOUSE; CONE; MICE Multiple languages Ophthalmology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/28558