Dataset Information

Benign yellow dot maculopathy.

ABSTRACT:

Purpose

To describe a new family with benign yellow dot maculopathy.

Observations

A young male patient was found to have bilateral multiple small yellow dots in both maculae. Visual acuity and color vision were normal, and no pathological findings were demonstrated on automated visual field, optical coherence tomography (OCT) and electrophysiological testing. Examination of his parents revealed similar findings in his mother, suggesting autosomal dominant inheritance. No deterioration of vision occurred over long term follow up. These findings are consistent with the newly described phenotype of benign yellow dot maculopathy.

Conclusions and importance

This is the first report of patients with benign yellow dot maculopathy since its original description, and the first to document it in a family of North African descent. This report will serve to raise awareness to this phenotype, which may be more common than currently known.

SUBMITTER: Moisseiev E

PROVIDER: S-EPMC5956630 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Publications

Benign yellow dot maculopathy.

Moisseiev Elad E

American journal of ophthalmology case reports 20180128

<h4>Purpose</h4>To describe a new family with benign yellow dot maculopathy.<h4>Observations</h4>A young male patient was found to have bilateral multiple small yellow dots in both maculae. Visual acuity and color vision were normal, and no pathological findings were demonstrated on automated visual field, optical coherence tomography (OCT) and electrophysiological testing. Examination of his parents revealed similar findings in his mother, suggesting autosomal dominant inheritance. No deteriora ...[more]

PMID: 29780904

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Project description: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.

Project description:BackgroundChloroquine (CQ) and hydroxychloroquine (HCQ) are used to treat auto-immune related diseases such as rheumatoid arthritis (RA) or systemic lupus erythematosus. Both drugs however can cause retinal toxicity eventually leading to irreversible maculopathy and retinopathy. Established risk factors are duration and dosage of treatment while the involvement of genetic factors contributing to toxic maculopathy is largely unclear. To address the latter issue, this study aimed to expand on earlier efforts by (1) evaluating risk-altering variants known to be associated with age-related macular degeneration (AMD), a frequent maculopathy in individuals over 55 years of age, and (2) determining the contribution of genetic variants in the coding sequence of the ABCA4 gene.MethodsThe ABCA4 gene was analyzed by deep sequencing technology using a personal genome machine (Ion Torrent) with 200 bp read length. Assessment of AMD variants was done by restriction enzyme digestion of PCR products and TaqMan SNP genotyping. Effect sizes, p-values and confidence intervals of common variants were evaluated by logistic regression (Firth's bias corrected). To account for multiple testing, p-values were adjusted according to the false discovery rate.ResultsWe found no effects of known AMD-associated variants on the risk of toxic maculopathy. In contrast, we report a statistically significant association of common variants in the ABCA4 gene with retinal disease, assessed by a score-based variance-component test (PSKAT = 0.0055). This association remained significant after adjustment for environmental factors like age and duration of medication and was driven by three common variants in ABCA4 (c.5682G > C, c.5814A > G, c.5844A > G), all conferring a reduced risk for toxic maculopathy.ConclusionsOur findings demonstrate that minor alleles of common genetic variants in ABCA4 significantly reduce susceptibility to develop toxic maculopathy under CQ treatment. A refined risk profile based on genetic and environmental factors may have implications for revised recommendations in CQ as well as HCQ treatment.

Dataset Information

Benign yellow dot maculopathy.

Purpose

Observations

Conclusions and importance

Publications

Benign yellow dot maculopathy.

Similar Datasets

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