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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
Summary
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.
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.
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