Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

Samuel G Jacobson; Artur V Cideciyan; Gopalakrishnan Regunath; Francisco J Rodriguez; Kimberlie Vandenburgh; Val C Sheffield; Edwin M Stone

doi:10.1038/ng0995-27

Back

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

Journal article

Peer reviewed

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

Samuel G Jacobson, Artur V Cideciyan, Gopalakrishnan Regunath, Francisco J Rodriguez, Kimberlie Vandenburgh, Val C Sheffield and Edwin M Stone

Nature genetics, Vol.11(1), pp.27-32

09/1995

DOI: 10.1038/ng0995-27

PMID: 7550309

View Online

Abstract

Sorsby's fundus dystrophy (SFD) is an autosomal dominant retinal degeneration caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene. Mechanisms of the visual loss in SFD, however, remain unknown. In a SFD family with a novel TIMP3 point mutation, we tested a hypothesis that their night blindness is due to a chronic deprivation of vitamin A at the level of the photoreceptors caused by a thickened membrane barrier between the photoreceptor layer and its blood supply. Vitamin A at 50,000 IU/d was administered orally. Within a week, the night blindness disappeared in patients at early stages of disease. Nutritional night blindness is thus part of the pathophysiology of this genetic disease and vitamin A supplementation can lead to dramatic restoration of photoreceptor function.

Night Blindness - drug therapy

Night Blindness - metabolism

Bruch Membrane - pathology

Humans

Middle Aged

Night Blindness - etiology

Male

Retinal Rod Photoreceptor Cells - blood supply

Retinal Degeneration - metabolism

Vitamin A - administration & dosage

Polymorphism, Single-Stranded Conformational

Bruch Membrane - drug effects

DNA Mutational Analysis

Vitamin A - pharmacokinetics

Night Blindness - pathology

Adult

Female

Eye Proteins - genetics

Diffusion

Scotoma - drug therapy

Tissue Inhibitor of Metalloproteinase-3

Retinal Degeneration - genetics

Proteins - genetics

Point Mutation

Scotoma - etiology

Vitamin A - therapeutic use

Pedigree

Retinal Degeneration - pathology

Bruch Membrane - metabolism

Fundus Oculi

Retinal Degeneration - complications

Details

Title: Subtitle: Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
Creators: Samuel G Jacobson - Department of Ophthalmology, University of Miami School of Medicine, Bascom Palmer Eye Institute, Florida 33136, USA
Artur V Cideciyan
Gopalakrishnan Regunath
Francisco J Rodriguez
Kimberlie Vandenburgh
Val C Sheffield
Edwin M Stone
Resource Type: Journal article
Publication Details: Nature genetics, Vol.11(1), pp.27-32
DOI: 10.1038/ng0995-27
PMID: 7550309
NLM abbreviation: Nat Genet
ISSN: 1061-4036
eISSN: 1546-1718
Publisher: United States
Grant note: EY10564 / NEI NIH HHS EY05627 / NEI NIH HHS EY10539 / NEI NIH HHS
Language: English
Date published: 09/1995
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979981202771

Metrics

25 Record Views

159 Times Cited - Web of Science

See more details