{Reference Type}: Journal Article
{Title}: A Wolfram-like syndrome family: Case report.
{Author}: Li S;Li X;Qu J;
{Journal}: Eur J Ophthalmol
{Volume}: 0
{Issue}: 0
{Year}: 2024 Mar 12
{Factor}: 1.922
{DOI}: 10.1177/11206721241237552
{Abstract}: <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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).<BR><B>CONCLUSIONS: </B>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.