Cone and Rod Dysfunction in Fundus Albipunctatus with RDH5 Mutation: An Electrophysiological Study
Abstract
PURPOSE: A prior study showed that some patients with fundus albipunctatus (FA) have severely reduced full-field cone ERGs. The purpose of this study was to investigate the frequency of cone dysfunction and to determine the cause of the reduced full-field cone ERGs in patients with FA and whether the rod system is affected in patients with FA. METHODS: Sixteen consecutive patients with FA (from 1993 to 2003; eight males, eight females; mean age, 25.4 years) with an RDH5 gene mutation were studied. The amplitudes and implicit times of the standard cone ERGs in the patients with FA were compared to those obtained from normal subjects (n = 55). The a-waves of cone ERGs were also elicited by a bright flash and were fitted to a mathematical model of the a-wave. Rod ERG responses were elicited by dim blue flashes after 3 hours of dark adaptation. RESULTS: The amplitude of the b-wave of the cone ERG in the FA group varied considerably from within the normal limits to markedly decreased. Six of 16 patients with FA had b-wave amplitudes that were smaller than the lowest limit of the control subjects. The degree of cone dysfunction tended to be more severe in older patients. The analysis of the cone a-wave demonstrated that R(m) (maximal response amplitude) in the patients with FA with reduced standard cone ERGs was significantly smaller than that in control subjects. Rod ERGs were also reduced in the patients with FA who had reduced cone ERGs. CONCLUSIONS: In patients with FA, 38% had extensive cone dysfunction. The reduced full-field cone ERGs were mainly due to the loss of cone photoreceptors, and the rod system was also affected in some patients.
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Around 30% of patients with fundus albipunctatus, usually elderly, develop progressive cone dystrophy.
“Around 30% of patients with fundus albipunctatus, usually elderly, develop also progressive cone dystrophy [139,144].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [144]
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- Authors
- Niwa, Y., Kondo, M., Ueno, S., Nakamura, M., Terasaki, H., & Miyake, Y.
- Affiliations
- Nagoya University Hospital (JP)
- Venue
- Investigative Opthalmology & Visual Science
- Published
- 2005-04-01
- Volume
- 46
- Issue
- 4
- Pages
- 1480
- ISSN
- 0146-0404 (ISSN-L)
- 1552-5783
- OpenAlex
- W1996900224
- Cited by
- 58
- References
- 31
- Citations by year
- 2026: 2 · 2024: 2 · 2023: 2 · 2022: 6 · 2021: 4 · 2020: 2 · 2019: 3 · 2018: 3 · 2016: 2 · 2015: 2 · 2014: 7 · 2013: 3 · 2012: 5
- FWCI
- 1.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Investigative Ophthalmology & Visual Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Photoreceptor and optogenetics research
- Keywords
- fundus albipunctatus, cone dysfunction, b-wave amplitude, retinal degeneration
- MeSH terms
- Adolescent, Adult, Aged, Alcohol Oxidoreductases, Child, Dark Adaptation, Electroretinography, Female, Humans, Male, Middle Aged, Mutation, Night Blindness, Photic Stimulation, Pigment Epithelium of Eye, Retinal Rod Photoreceptor Cells, Retinal Cone Photoreceptor Cells
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