A Wolfram-like syndrome family: Case report

Eur J Ophthalmol. 2024 Mar 12:11206721241237552. doi: 10.1177/11206721241237552. Online ahead of print.


BACKGROUND: Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the WFS1 gene. Its clinical presentation is similar to autosomal recessive Wolfram syndrome.

CASE PRESENTATION: We reported a case of a 10-year-old boy and his family members who initially experienced hearing impairment (HI), followed by optic atrophy. Genetic testing revealed the presence of a WFS1 variant (chr4-6302385 exon8 NM_006005.3: c.2590G > A, p. Glu864Lys).

CONCLUSION: Wolfram-like syndrome, a rare neurodegenerative genetic disorder, manifested as deafness, optic atrophy, and diabetes mellitus. There hasn’t been a definite treatment yet. Early identification of the variant in the WFS1 gene is beneficial for genetic counseling.

PMID:38470317 | DOI:10.1177/11206721241237552