Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.

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Abstract

Leber congenital amaurosis (LCA) is a severe retinal dystrophy, typically manifesting in the first year of life. Mutations in more than 18 genes have been reported to date. In recent studies, biallelic mutations in NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 have been found to cause LCA.

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Author and article information

Journal

Journal ID (iso-abbrev): Graefes Arch. Clin. Exp. Ophthalmol.

Title: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Publisher: Springer Nature America, Inc

ISSN (Electronic): 1435-702X

ISSN (Print): 0721-832X

Publication date (Electronic): Dec 2015

Volume: 253

Issue: 12

Affiliations

[1 ] Department of Ophthalmology, University Hospital Cologne, Joseph Stelzmann Str.9, D-50931, Cologne, Germany. a.schild@gmx.de.

[2 ] Institute of Human Genetics, Ulm University, 89081, Ulm, Germany.

[3 ] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.

[4 ] Department of Paediatrics, University Hospital Cologne, 50931, Cologne, Germany.

[5 ] Cologne Center for Genomics, University of Cologne, 50931, Cologne, Germany.

[6 ] Department of Ophthalmology, University Hospital Cologne, Joseph Stelzmann Str.9, D-50931, Cologne, Germany.

[7 ] Institute of Human Genetics, University Hospital Cologne, 50931, Cologne, Germany.

[8 ] University of Cologne, Center for Molecular Medicine Cologne (CMMC), 50931, Cologne, Germany.

[9 ] Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931, Cologne, Germany.

Article

Publisher Item ID: 10.1007/s00417-015-3174-0

DOI: 10.1007/s00417-015-3174-0

PubMed ID: 26464178

SO-VID: 2482b263-6928-4156-8456-62365f02b4bd

History

Keywords: NMNAT1,Whole exome sequencing,Macular atrophy,LCA

Data availability:

Keywords: NMNAT1, Whole exome sequencing, Macular atrophy, LCA

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