Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences

JAMA Ophthalmol. 2014 Oct;132(10):1252-5. doi: 10.1001/jamaophthalmol.2014.2059.

Authors

Samuel G Jacobson¹, Artur V Cideciyan¹, Alexander Sumaroka¹, Alejandro J Roman¹, Alan F Wright²

Affiliations

¹ Scheie Eye Institute, University of Pennsylvania, Philadelphia.
² Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland.

No abstract available

Publication types

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

MeSH terms

Aged
Collagen / genetics*
Fluorescein Angiography
Humans
Middle Aged
Mutation*
Photoreceptor Cells, Vertebrate / physiology*
Retinal Degeneration / genetics*
Retinal Degeneration / physiopathology
Retinal Pigment Epithelium / pathology*
Tomography, Optical Coherence
Visual Acuity / physiology*

Substances

C1QTNF5 protein, human
Collagen

Supplementary concepts

Late-Onset Retinal Degeneration

Grants and funding