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Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

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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.

Keywords:

Mulvihill-Smith syndrome optical coherence tomography progeria retinal features sclera thickening

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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.