Our results provide a clinical characterization of the main tilted disc morphologies and are valuable for correctly differentiating a tilted disc from a myopic glaucomatous disc. RNFL assessment by Spectralis OCT seems to be more susceptible to altered disc morphologies. The peripapillary RNFL changes found on titled disc cases could not predict the location of visual field defects.
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.
Ophthalmic manifestations were among the earliest and most prominent manifestations of botulism in this series, as in earlier reports. The diagnosis should be suspected when impaired accommodation and gastrointestinal symptoms occur together.
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