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Related Experiment Video

Updated: Mar 8, 2026

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
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Prominent Optic Disc Featured in Inherited Retinopathy.

M G Todorova1, R I Bojinova2, C Valmaggia3

  • 1Department of Ophthalmology, University of Basel, Switzerland (Chairman: Prof. Hendrik Scholl).

Klinische Monatsblatter Fur Augenheilkunde
|February 2, 2017
PubMed
Summary
This summary is machine-generated.

Prominent optic disc findings are linked to various inherited retinal dystrophies (IRDs). Early diagnosis of IRDs is crucial when prominent optic discs are present, guiding further investigation and management.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Research

Background:

  • The relationship between prominent optic disc (POD) and inherited retinal dystrophies (IRDs) requires further investigation.
  • POD can be a presenting sign in a spectrum of retinal disorders.

Purpose of the Study:

  • To investigate the association between prominent optic disc (POD) and inherited retinal dystrophies (IRDs).
  • To identify genetic mutations underlying IRDs presenting with POD.

Main Methods:

  • Cross-sectional study of 21 individuals from 7 families with POD.
  • Clinical phenotyping including fundus autofluorescence, color fundus, and OCT imaging.
  • Genetic testing for family members with retinal pathology.

Main Results:

  • Identified mutations in BEST1, ABCA4, USH1A, RS1, TOPORS, and ABCA4 in families with POD and IRDs.
  • Observed diverse optic disc appearances, including hyperfluorescent deposits and "mulberry-like" deposits.
  • Linked specific mutations to conditions like cone-rod dystrophy, retinoschisis, and Stargardt disease.

Conclusions:

  • Prominent optic disc findings are associated with a genetically diverse group of inherited retinal dystrophies.
  • In cases of POD, ruling out inherited progressive photoreceptor diseases is essential for timely diagnosis and management.