Retinitis pigmentosa with skeletal anomalies

Definition:

Retinitis pigmentosa with skeletal anomalies (RPSKA) is a rare autosomal recessive syndrome characterized by retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological defects. It has been reported that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated retinitis pigmentosa to severe syndromic forms.

References:

[1]. C I Phillips, et al. Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister. J Med Genet. 1981 Feb;18(1):46-9. [Content Brief]

[2]. Mingchu Xu, et al. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 Apr 6;100(4):592-604. [Content Brief]

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