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.
Evidence of retinal degeneration in Wolfram syndrome / M. Scaramuzzi, P. Kumar, N. Peachey, P. Nucci, E.I. Traboulsi. - In: OPHTHALMIC GENETICS. - ISSN 1381-6810. - (2018 Dec 03), pp. 1-5. [Epub ahead of print] [10.1080/13816810.2018.1551494]
Evidence of retinal degeneration in Wolfram syndrome
M. ScaramuzziPrimo
;P. NucciPenultimo
;
2018
Abstract
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.File | Dimensione | Formato | |
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Evidence of Retinal Degeneration in Wolfram Syndrome.pdf
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