A Case of Unexpected Adult-Onset Neurologic Decline in CLN3-Associated Retinal Degeneration

JAMA Ophthalmol. 2017 Dec 1;135(12):1451-1453. doi: 10.1001/jamaophthalmol.2017.4353.

Authors

Willemijn F E Kuper¹, Claudia van Alfen², Linda van Eck², Brigitte T A van den Broek³, Albert Huisman⁴, Maria M van Genderen², Peter M van Hasselt¹

Affiliations

¹ Department of Metabolic Diseases, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, the Netherlands
² Bartiméus Institute for the Visually Impaired, Zeist and Doorn, the Netherlands
³ Sylvia Toth Center for Multidisciplinary Follow-up of Lysosomal Storage Disorders, University Medical Center Utrecht, Utrecht, the Netherlands
⁴ Department of Clinical Chemistry, University Medical Center Utrecht, Utrecht, the Netherlands

PMID: 29049447
DOI: 10.1001/jamaophthalmol.2017.4353

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Electroretinography
Humans
Male
Membrane Glycoproteins / genetics*
Molecular Chaperones / genetics*
Mutation, Missense*
Nervous System Diseases / diagnosis
Nervous System Diseases / genetics*
Retina / physiopathology
Retinal Degeneration / diagnostic imaging
Retinal Degeneration / genetics*
Retinal Degeneration / physiopathology
Tomography, Optical Coherence
Visual Acuity

Substances

CLN3 protein, human
Membrane Glycoproteins
Molecular Chaperones