Universität zu Köln

Laiou, C. Papadopoulou, Preising, M. N., Bolz, H. J. and Lorenz, B. (2017). Genotype-Phenotype Correlations in Patients with CRB1 Mutations. Klinische Monatsblat. Augenheilkunde, 234 (3). S. 289 - 303. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3999

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Abstract

Background Mutations in the CRB1 gene were identified in patients with early-onset severe retinal dystrophy (EOSRD), childhood-onset and juvenile-onset rod-cone dystrophy. This study describes the phenotypic spectrum of disease-causing CRB1-mutations in the first two decades of life. Materials and Methods Eight patients, aged three months to 20 years, underwent a full comprehensive ophthalmological examination including best corrected visual acuity testing (BCVA), color vision testing, funduscopy, spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) recording. Automated and manual retinal layer segmentation of SD-OCT recordings was performed using DIOCTA software. A full-field electroretinography (ffERG, ISCEV Standard) and visual fields were performed in cooperative patients. Results Five patients carried mutations causing a loss of the corresponding gene product (splice-mutation, nonsense-mutation, frameshifting mutation). These patients presented with generally reduced vision in the first months of life that never exceeded 0.04 during the observational period. The sixth patient carried a homozygous missense mutation and reached maximal BCVA 0.05 at the age of 6 years. Two further patients, carrying at least one hypomorphic missense-mutation, presented with better preserved visual function with up to 0.5 at the age of 20 years. The recorded ffERG was below threshold in the majority of patients. Visual fields were severely restricted. The photoreceptor layers were significantly reduced in SD-OCTwhenever stratification of retinal layers was possible. The inner nuclear layer thickness increased with progressing retinal degeneration. A-Scan analysis revealed better preservation of the retinal stratification in patients with missense mutations. Conclusions Patients with CRB1-mutations presented with a severe phenotype with severely reduced visual acuity from birth. Missense mutations with predicted residual function of the gene product were associated with moderate expression of the disease. Severe and progressive restriction of visual fields occurred in the first decade of life. The reduced retinal stratification indicates a general loss of structural integrity of the retinal layers.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Laiou, C. Papadopoulou UNSPECIFIED UNSPECIFIED UNSPECIFIED Preising, M. N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, H. J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lorenz, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-237066
DOI:	10.1055/s-0043-103961
Journal or Publication Title:	Klinische Monatsblat. Augenheilkunde
Volume:	234
Number:	3
Page Range:	S. 289 - 303
Date:	2017
Publisher:	GEORG THIEME VERLAG KG
Place of Publication:	STUTTGART
ISSN:	1439-3999
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language LEBER CONGENITAL AMAUROSIS; RETINITIS-PIGMENTOSA; MOLECULAR-GENETICS; GENES; RPE65 Multiple languages Ophthalmology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23706