Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report.

ABSTRACT:

Rationale

Retinitis pigmentosa with or without skeletal abnormalities (RPSKA) is an autosomal recessive disorder caused by mutations in the CWC27 gene. Skeletal dysplasia and non-syndromic retinitis pigmentosa are typical manifestations, and most patients present with retinopathy such as retinitis pigmentosa and limited visual field. Its clinical manifestations are complex and diverse, often involving multiple systems. Examples include short finger deformities, peculiar facial features, short stature, and neurodevelopmental abnormalities, and it is easy to misdiagnose clinically, and early diagnosis is crucial for prognosis.

Patient concerns

A 2-year and 2-month-old female child was admitted to the hospital due to "unsteady walking alone and slow reaction for more than half

SUBMITTER: Qi YF 

PROVIDER: S-EPMC10735150 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature