Observational studyOphthalmology2017
Benign Yellow Dot Maculopathy: A New Macular Phenotype.
Observational study in Ophthalmology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 18 citations in OpenAlex.
- Systemic and Local Lipids in Nonhuman Primates With Drusen and Age-Related Maculopathies.Investigative ophthalmology & visual science · 2025Article
- Extended phenotypic spectrum of benign yellow dot maculopathy.Eye (London, England) · 2025Article
- Benign Yellow Dot Maculopathy: A Case Series of Patients With a Recently Discovered Macular Phenotype.Cureus · 2024Article
- Unilateral benign yellow dot maculopathy.American journal of ophthalmology case reports · 2021Article
- Benign yellow dot maculopathy.American journal of ophthalmology case reports · 2018Article
- Multimodal Imaging of Unilateral Benign Yellow Dot Maculopathy.Journal of vitreoretinal diseasesArticle
- Benign Yellow Dot Maculopathy in a Palestinian Child: A Case Report.Case reports in ophthalmologyArticle
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeTo describe a novel macular phenotype that is associated with normal visual function.
designRetrospective, observational case series.
participantsThirty-six affected individuals from 23 unrelated families.
methodsThis was a retrospective study of patients who had a characteristic macular phenotype. Subjects underwent a full ocular examination, electrophysiologic studies, spectral-domain optical coherence tomography (OCT), and fundus autofluorescence imaging. Genomic analyses were performed using haplotype sharing analysis and whole-exome sequencing.
main outcome measuresVisual acuity, retinal features, electroretinography, and whole-exome sequencing.
resultsTwenty-six of 36 subjects were female. The median age of subjects at presentation was 15 years (range, 5-59 years). The majority of subjects were asymptomatic and presented after a routine eye examination (22/36 subjects) or after screening because of a positive family history (13/36 subjects) or by another ophthalmologist (1/36 subjects). Of the 3 symptomatic subjects, 2 had reduced visual acuity secondary to nonorganic visual loss and bilateral ametropic amblyopia with strabismus. Visual acuity was 0.18 logarithm of the minimum angle of resolution (logMAR) or better in 30 of 33 subjects. Color vision was normal in all subjects tested, except for the subject with nonorganic visual loss. All subjects had bilateral symmetric multiple yellow dots at the macula. In the majority of subjects, these were evenly distributed throughout the fovea, but in 9 subjects they were concentrated in the nasal parafoveal area. The dots were hyperautofluorescent on fundus autofluorescence imaging. The OCT imaging was generally normal, but in 6 subjects subtle irregularities at the inner segment ellipsoid band were seen. Electrophysiologic studies identified normal macular function in 17 of 19 subjects and normal full-field retinal function in all subjects. Whole-exome analysis across 3 unrelated families found no pathogenic variants in known macular dystrophy genes. Haplotype sharing analysis in 1 family excluded linkage with the North Carolina macular dystrophy (MCDR1) locus.
conclusionsA new retinal phenotype is described, which is characterized by bilateral multiple early-onset yellow dots at the macula. Visual function is normal, and the condition is nonprogressive. In familial cases, the phenotype seems to be inherited in an autosomal dominant manner, but a causative gene is yet to be ascertained.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.