Background: Mulvihill-Smith syndrome is a rare progeroid syndrome of sporadic nature. Previously reported ophthalmological findings include astigmatism, myopia, endothelial dystrophy, keratoconus, cataract, band keratopathy, meibomian gland dysfunction, dry eye disease, amblyopia, and allergic conjunctivitis.
Materials and methods: The proband, a 25-year-old male subject diagnosed with Mulvihill-Smith syndrome in childhood developed retinal changes with onset of adulthood. The retinal changes were monitored for progression with fundus photography, electrodiagnostic tests, and spectral domain optical coherence tomography.
Results: The fundus examination revealed grossly normal looking retina with dull foveal reflex. The optical coherence tomography scan of the retina revealed diffuse thickening, schisis, and folding of retinal layers in both eyes. The structural changes in retina were progressive with wrinkling of inner retinal layers and loss of foveal contour as observed over 3 years. The electrodiagnostic tests revealed normal photoreceptor-retinal pigment epithelial interface.
Conclusions: This is the first report of retinal features in Mulvihill-Smith syndrome. These ocular changes coincided with other systemic changes with the onset of adulthood. These changes may indicate the natural history of retinal features in this progeria syndrome with short life span. The detailed analysis and progression of structural changes in retina is possible with optical coherence tomography.
Keywords: Mulvihill-Smith syndrome; optical coherence tomography; progeria; retinal features; sclera thickening.