Ophthalmic genetics · 2018
Evidence of retinal degeneration in Wolfram syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Scaramuzzi Matteo, Kumar Priyanka, Peachey Neal, Nucci Paolo, Traboulsi Elias I
Аннотация
PURPOSE: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype. We present two cases with Wolfram syndrome and evidence of retinal degeneration.
MATERIALS AND METHODS: Observational case series. Patients underwent complete ocular examinations as well as retinal imaging and electroretinography.
RESULTS: Both patients had electroretinographic evidence of retinal dysfunction/degeneration in addition to optic atrophy with an otherwise normal-appearing retina.
CONCLUSIONS: Some patients with Wolfram syndrome have a mild retinal degeneration that may be a manifestation of the neuronal involvement that is present in this condition.
MATERIALS AND METHODS: Observational case series. Patients underwent complete ocular examinations as well as retinal imaging and electroretinography.
RESULTS: Both patients had electroretinographic evidence of retinal dysfunction/degeneration in addition to optic atrophy with an otherwise normal-appearing retina.
CONCLUSIONS: Some patients with Wolfram syndrome have a mild retinal degeneration that may be a manifestation of the neuronal involvement that is present in this condition.