Metaphyseal Chondrodysplasia-Retinitis Pigmentosa Syndrome
Autosomal recessive · Only a small number of families have been reported.
Caused by changes in both copies of CWC27, which encodes a protein associated with the spliceosome, the machinery that processes messenger RNA. Reported changes include protein-truncating variants, which are expected to remove the protein's function.
Signs and symptoms
Retinitis pigmentosa, with night blindness and progressive loss of peripheral vision, is the most consistent feature. Many also have short stature and short fingers. Less often there are distinctive facial features or developmental delay, and some have eye disease alone.
What a diagnosis changes
Regular eye assessment with low-vision support, and growth and orthopaedic review. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.
Genes analysed
Also known as
RPSKA
