Flecked Retina Syndrome
Abstract
Fundi characterized by a limited or widespread distribution of deep yellowish or white lesions of various size and configuration without vascular and optic nerve abnormalities or pigment migration have been described under several diagnoses. These have included Hutchinson-Tay choroiditis,1macular degeneration of Holthouse-Batten,2,3Doyne's honeycombed degeneration,4malattia Levantinese,5fundus flavimaculatus,6fundus albipunctatus (stationary form of retinitis punctata albescens),7the speckled multicolored fundus,8the fleck retina9and a general category in which the deposits are called colloid bodies or drusen and are either widespread or limited to the posterior polar region.6Such ophthalmoscopic findings have also been described in some cases classified as hereditary macular degenerations. There are, however, only three characteristic fundi among all of these conditions, despite the multiple appellations. One type is seen only in fundus albipunctatus. In this condition there are white or yellow-white uniform dot-like lesions over
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Pathogenic variants in RDH5 are associated with autosomal recessive fundus albipunctatus.
“Pathogenic variants in RDH5 have been associated with autosomal recessive fundus albipunctatus, which belongs to a group of hereditary flecked retina syndromes [137].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [137]
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References 6 · Cited by 100
- Authors
- KRILL, A. E., & KLIEN, B. A.
- Venue
- Archives of Ophthalmology
- Publisher
- American Medical Association (AMA)
- Published
- 1965-10-01
- Volume
- 74
- Issue
- 4
- Pages
- 496-508
- ISSN
- 0003-9950 (ISSN-L)
- OpenAlex
- W2161248944
- Cited by
- 100
- References
- 6
- Citations by year
- 2024: 2 · 2022: 4 · 2020: 2 · 2017: 1 · 2016: 1 · 2014: 1 · 2013: 2 · 2012: 2
- FWCI
- 2.13
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Archives of Ophthalmology (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
- Health Sciences › Medicine › Ophthalmology › Ocular Diseases and Behçet’s Syndrome
- Keywords
- fundus lesions, fundus flavimaculatus, fundus albipunctatus, retinitis punctata albescens, drusen, hereditary macular degeneration
- MeSH terms
- Adolescent, Adult, Aged, Child, Electrooculography, Electroretinography, Eye Diseases, Female, Fundus Oculi, Humans, Macula Lutea, Male, Middle Aged, Retina, Vision Tests
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