[Wolfram-like syndrome: a case report].
Zhonghua Yan Ke Za Zhi
; 60(2): 180-184, 2024 Feb 11.
Article
em Zh
| MEDLINE
| ID: mdl-38296324
ABSTRACT
Different from classical autosomal recessive Wolfram syndrome, Wolfram-like syndrome is an autosomal dominant disorder caused by a heterozygous mutation in the WFS1 gene. In this case, a 7-year-old male child presented to the eye clinic due to vision loss that could not be corrected, discovered during a routine examination. The child had experienced hearing impairment since early childhood, leading to cochlear implantation. Ophthalmic examination revealed optic disc atrophy in both eyes. Optical coherence tomography imaging demonstrated a distinctive thickening of the outer plexiform layer with abnormal layering, characteristic of a single mutation in the WFS1 gene. Subsequent genetic testing identified a de novo heterozygous missense mutation c.2051C>T (p.A684V) in the WFS1 gene, which ultimately led to the diagnosis of Wolfram-like syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Wolfram
/
Atrofia Óptica
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Child
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Humans
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Male
Idioma:
Zh
Revista:
Zhonghua Yan Ke Za Zhi
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China