Ocular complications in Mulvihill–Smith syndrome

Suspicious pigmented tumor in Mulvihill‐Smith syndrome

“…He has bilateral hypacusia. As has been reported in other patients, our patient also had ophthalmological symptoms [5–7].…”

“…In their original paper, they reported a 17‐year‐old mentally retarded patient who had short stature, microcephaly, multiple melanocytic nevi, hypodontia, chronic infections and insulin‐dependent diabetes mellitus; they had seen these symptoms reported just prior to their own publication in a four‐year‐old boy [2]. Other patients with the same constellation of symptoms were later identified – to our knowledge there are no more than 10 reported cases today [1–13].…”

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.…”

Retinal features in Mulvihill-Smith syndrome

“…Previously reported ophthalmological findings include amblyopia, myopia, meibomian gland dysfunction, dry eye disease, allergic conjunctivitis, band keratopathy, astigmatism, keratoconus, endothelial dystrophy, and cataract. 4,5 We are the first to describe retinal abnormalities in a 25-year-old man with Mulvihill-Smith syndrome.…”