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Retinal features in Mulvihill-Smith syndrome
Pallavi Tyagi1, Zain Juma1, Aravind R Reddy1
1a Department of Ophthalmology , Aberdeen Royal Infirmary , Aberdeen , UK.
Ophthalmic Genetics
|June 9, 2016
Summary
This study details the first reported retinal changes in Mulvihill-Smith syndrome, a rare progeroid disorder. Retinal thickening, schisis, and folding progressed over three years in adulthood, highlighting a new aspect of this syndrome.
Area of Science:
- Ophthalmology
- Genetics
- Rare Diseases
Background:
- Mulvihill-Smith syndrome is a rare, sporadic progeroid syndrome.
- Previous reports documented various anterior segment and ocular surface abnormalities.
Observation:
- A 25-year-old male with Mulvihill-Smith syndrome developed adult-onset retinal changes.
- Fundus photography showed a dull foveal reflex.
- Spectral domain optical coherence tomography (SD-OCT) revealed diffuse retinal thickening, schisis, and folding.
Findings:
- Retinal structural changes were progressive over three years, including inner retinal wrinkling and foveal contour loss.
- Electrodiagnostic tests indicated a normal photoreceptor-retinal pigment epithelial interface.
- These findings represent the first detailed description of retinal manifestations in Mulvihill-Smith syndrome.
Implications:
- The observed retinal changes may be part of the natural history of Mulvihill-Smith syndrome, particularly given its association with a short lifespan.
- SD-OCT is crucial for analyzing the progression of these structural retinal alterations.
- This research expands the understanding of ocular involvement in progeroid syndromes.
