Universität zu Köln

Birtel, Johannes, Spital, Georg, Book, Marius ORCID: 0000-0002-5178-8673, Habbig, Sandra, Baeumner, Soeren, Riehmer, Vera, Beck, Bodo B., Rosenkranz, David, Bolz, Hanno J., Dahmer-Heath, Mareike ORCID: 0000-0002-1667-7820, Herrmann, Philipp, Koenig, Jens and Issa, Peter Charbel (2021). NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. Kidney Int., 100 (5). S. 1092 - 1101. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

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Abstract

Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cause of hereditary end-stage kidney disease. Nephrocystin 1, the gene product of NPHP1, is also expressed in photoreceptors where it plays an important role in intra-flagellar transport between the inner and outer segments. However, the human retinal phenotype has never been investigated in detail. Here, we characterized retinal features of 16 patients with homozygous deletions of the entire NPHP1 gene. Retinal assessment included multimodal imaging (optical coherence tomography, fundus autofluorescence) and visual function testing (visual acuity, full -field electroretinography, color vision, visual field). Fifteen patients had a mild retinal phenotype that predominantly affected cones, but with relative sparing of the fovea. Despite a predominant cone dysfunction, night vision problems were an early symptom in some cases. The consistent retinal phenotype on optical coherence tomography images included reduced reflectivity and often a granular appearance of the ellipsoid zone, fading or loss of the interdigitation zone, and mild outer retinal thinning. However, there were usually no obvious structural changes visible upon clinical examination and fundus autofluorescence imaging (occult retinopathy). More advanced retinal degeneration might occur with ageing. An identified additional CEP290 variant in one patient with a more severe retinal degeneration may indicate a potential role for genetic modifiers, although this requires further investigation. Thus, diagnostic awareness about this distinct retinal phenotype has implications for the differential diagnosis of nephronophthisis and for individual prognosis of visual function.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Birtel, Johannes UNSPECIFIED UNSPECIFIED UNSPECIFIED Spital, Georg UNSPECIFIED UNSPECIFIED UNSPECIFIED Book, Marius UNSPECIFIED orcid.org/0000-0002-5178-8673 UNSPECIFIED Habbig, Sandra UNSPECIFIED UNSPECIFIED UNSPECIFIED Baeumner, Soeren UNSPECIFIED UNSPECIFIED UNSPECIFIED Riehmer, Vera UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rosenkranz, David UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, Hanno J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dahmer-Heath, Mareike UNSPECIFIED orcid.org/0000-0002-1667-7820 UNSPECIFIED Herrmann, Philipp UNSPECIFIED UNSPECIFIED UNSPECIFIED Koenig, Jens UNSPECIFIED UNSPECIFIED UNSPECIFIED Issa, Peter Charbel UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-596500
DOI:	10.1016/j.kint.2021.06.012
Journal or Publication Title:	Kidney Int.
Volume:	100
Number:	5
Page Range:	S. 1092 - 1101
Date:	2021
Publisher:	ELSEVIER SCIENCE INC
Place of Publication:	NEW YORK
ISSN:	1523-1755
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PERIPHERAL CONE DYSTROPHY; CHRONIC KIDNEY-DISEASE; RETINAL DEGENERATION; HOMOZYGOUS DELETIONS; RETINITIS-PIGMENTOSA; MACULAR DYSTROPHY; JOUBERT-SYNDROME; MUTATIONS; CILIA; CHILDREN Multiple languages Urology & Nephrology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/59650