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Related Experiment Videos

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Arundhati Dev Borman1, Aleksandra Rachitskaya2, Martina Suzani3

  • 1Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Institute of Ophthalmology, London, United Kingdom.

Ophthalmology
|April 4, 2017
PubMed
Summary

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A novel macular phenotype with multiple yellow dots in the macula was identified in 36 individuals. This condition presents with normal visual function and appears nonprogressive, with potential autosomal dominant inheritance.

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Macular phenotypes can present with varying visual function.
  • Identifying novel genetic and phenotypic patterns is crucial for understanding retinal diseases.

Purpose of the Study:

  • To describe a new macular phenotype characterized by multiple yellow dots.
  • To investigate the association between this phenotype and visual function.
  • To explore the genetic basis of this condition.

Main Methods:

  • Retrospective observational case series of 36 individuals from 23 families.
  • Ocular examination, electrophysiologic studies, spectral-domain optical coherence tomography (OCT), and fundus autofluorescence imaging were performed.
  • Genomic analyses included haplotype sharing and whole-exome sequencing.

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Main Results:

  • A bilateral, symmetric, early-onset macular phenotype with multiple yellow dots was observed.
  • The majority of subjects (30/33) had good visual acuity (≥0.18 logMAR) and normal color vision.
  • Spectral-domain OCT showed subtle inner segment ellipsoid band irregularities in some subjects, while electrophysiologic studies indicated normal macular function in most.
  • Whole-exome sequencing did not identify pathogenic variants in known macular dystrophy genes.

Conclusions:

  • A novel retinal phenotype characterized by multiple early-onset macular yellow dots with normal visual function and nonprogressive nature is described.
  • Familial cases suggest autosomal dominant inheritance, but the causative gene remains to be identified.
  • This phenotype represents a distinct clinical entity requiring further genetic investigation.