Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases.
Ophthalmologica
; 241(2): 116-119, 2019.
Article
en En
| MEDLINE
| ID: mdl-30056456
ABSTRACT
PURPOSE:
The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families.METHODS:
Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation.RESULTS:
Our sample comprised 14 Caucasian patients belonging to 9 different families. Their ages ranged from 10 to 38 years. The mean duration of known disease was 11.3 ± 8.7 years. Genetic confirmation was obtained in 7 families. There was a parental consanguinity history in 2 families. Five families were homozygous for a mutation of exon 8 of the WFS1 gene (Chr. 4), and 2 patients were heterozygous. Diabetes mellitus was the first manifestation in all except 1 patient. The mean age at diagnosis was 8.7 years (range 3-22). None had diabetic retinopathy. The mean age at diagnosis of optic atrophy was 11.1 years (range 8-35). The best-corrected visual acuity ranged from counting fingers to 20/50.CONCLUSIONS:
Association of optic atrophy with insulin-dependent diabetes mellitus should raise the suspicion of Wolfram syndrome.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Disco Óptico
/
Síndrome de Wolfram
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Agudeza Visual
/
Atrofia Óptica
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Child
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Child, preschool
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Female
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Humans
/
Male
Idioma:
En
Año:
2019
Tipo del documento:
Article