Retinal features in Mulvihill-Smith syndrome

Abstract

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.

Orofacial signs and dental abnormalities in patients with Mulvihill–Smith syndrome

“…The authors also proposed oxidative stress disorder due to low manganese superoxide dismutase levels as an explanation for the aging manifestation of Mulvihill–Smith syndrome. [28] Tyagi et al [22] described retinal features in a 25-year-old man with Mulvihill–Smith syndrome. The authors stated that Mulvihill–Smith syndrome showed phenotypic similarities with other progeroid syndromes such as Cockayne syndrome, which exhibits pigmentary retinopathy and characteristic electrodiagnostic changes; however, the functional electroretinography changes and the absence of fundus pigmentation suggest a different underlying pathophysiology.…”

“…The authors reported that structural changes in the retina were progressive with loss of foveal contours and wrinkling of the inner retinal layers. [22]…”

“…[1] Some reported ophthalmological findings in patients affected by Mulvihill–Smith syndrome include myopia, amblyopia, astigmatism, dry eye disease, meibomian gland dysfunction, allergic conjunctivitis, band keratopathy, keratoconus, endothelial dystrophy, cataracts, and retinal abnormalities. [22]…”