Pract Neurol. 2025 Sep 9:pn-2025-004764. doi: 10.1136/pn-2025-004764. Online ahead of print.
ABSTRACT
A 22-year-old woman had an 8-year history of progressive bilateral vision loss and of diabetes mellitus. Her mother had diabetes and two first cousins had severe congenital deafness. On examination, her visual acuities were 6/36 bilaterally, with absent colour vision and gross optic disc pallor. Her HbA1c was 94 mmol/mol (20-42). Visual evoked potentials were bilaterally symmetrically prolonged with P100 140 ms. Optical coherence tomography showed significant thinning of the peripapillary retinal nerve fibre layer. MR scan of brain and orbits showed small optic nerves and chiasm. Genetic testing confirmed a diagnosis of autosomal recessive Wolfram syndrome-1. She is currently registered blind. We review the clinical and genetic features of Wolfram syndrome.
PMID:40930722 | DOI:10.1136/pn-2025-004764