Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature
Abstract
The aim of this study was to describe multimodal retinal imaging of fundus albipunctatus (FA) with the newly identified compound heterozygous RDH5 mutation and to review the relevant literature. Five family members were examined, and the RDH5 gene was analyzed by direct sequencing. The clinical features and genetic study of FA are reviewed. The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC → AGC) and a nonsense mutation of Trp95ter (TGG → TGA) in the RDH5 gene. Fundus examination revealed diffuse yellow flecks with foveal sparing. Infrared reflectance (IR) imaging showed multiple discrete round lesions, and fundus autofluorescence (FAF) imaging showed decreased autofluorescence. In spectral domain optical coherence tomography (SD-OCT), the lesions spanned across the retinal pigment epithelium complex and the photoreceptor inner segment ellipsoid band. The outer nuclear layer thickness is decreased compared to normal control. Electroretinography (ERG) showed improved dark-adapted responses after a prolonged 2.5-h dark adaptation. The fundi of the patient's son and daughter both appeared unremarkable. The clinical findings, differential diagnosis, and genetic studies of these features are reviewed. This is the first time that IR imaging of this disease has been reported; IR imaging showed more detail than did FAF imaging. Although retinal imaging (fundus photographs, FAF, IR, SD-OCT) of FA showed characteristic findings, ERG and genetic study remain the most reliable tests for making the diagnosis.
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Reduced fundus autofluorescence can also be found in retinal diseases with impaired function of enzymes involved in the conversion of all-trans-retinol into 11-cis-retinal in RPE cells, including RPE65, LRAT, RLBP1, RDH5 and RDH11.
“Reduced FAF can also be found in retinal diseases with impaired function of enzymes, involved in the conversion of all-trans-retinol into 11-cis-retinal in RPE cells. These enzymes include RPE65, LRAT, RLBP1, RDH5 and RDH11 [87,89].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [89]
Impaired 11-cis-retinal production leads to decreased A2E and lipofuscin formation, resulting in reduced autofluorescence in FAF images.
“Impaired 11-cis-retinal production also leads to decreased A2E and lipofuscin formation, which results in reduced autofluorescence in FAF images [87,89,139,140,141].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [89]
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- Authors
- Wang, N.-K., Chuang, L.-H., Lai, C.-C., Chou, C. L., Chu, H.-Y., Yeung, L., Chen, Y.-P., Chen, K.-J., Wu, W.-C., Chen, T.-L., Chao, A.-N., & Hwang, Y.-S.
- Affiliations
- Chang Gung University (TW)
- University of British Columbia (CA)
- Corresponding author
- Wang, Nan-Kai
- ORCID
- Venue
- Documenta Ophthalmologica
- Published
- 2012-06-06
- Volume
- 125
- Issue
- 1
- Pages
- 51-62
- ISSN
- 0012-4486 (ISSN-L)
- 1573-2622
- OpenAlex
- W2021507777
- Cited by
- 39
- References
- 48
- Citations by year
- 2026: 1 · 2024: 2 · 2023: 2 · 2022: 8 · 2021: 2 · 2020: 2 · 2019: 2 · 2018: 2 · 2017: 5 · 2016: 2 · 2015: 2 · 2014: 6 · 2013: 3
- FWCI
- 1.42
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Documenta Ophthalmologica (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Science Council
- Chang Gung Medical Foundation
- 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 albipunctatus, compound heterozygosity, retinal degeneration, infrared reflectance imaging, fundus autofluorescence, spectral-domain optical coherence tomography, outer nuclear layer thickness, electroretinogram, retinal pigment epithelium, photoreceptor degeneration, genetic diagnosis
- MeSH terms
- Adolescent, Adult, Aged, Alcohol Oxidoreductases, Amino Acid Sequence, Carrier Proteins, Child, Dark Adaptation, DNA Mutational Analysis, Electroretinography, Female, Heterozygote, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Night Blindness, Ophthalmoscopy, Pedigree, Retina, Retinal Degeneration, Vision, Ocular, Polymerase Chain Reaction, Tomography, Optical Coherence
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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