retinitis pigmentosa type 12 (RP12)

Pathology

• preserved paraarteriolar retinal pigment epithelium

Genetics

• autosomal recessive
• associated with defects in CRB1 gene

Clinical manifestations

• severe form of retinitis pigmentosa
• occurs from early childhood
• progressive visual field loss with severe visual impairment before age 20

More general terms

• retinitis pigmentosa (RP)

Additional terms

• U4/U6 small nuclear ribonucleoprotein Prp31 (pre-mRNA splicing factor 31, U4/U6 snRNP 61 kD protein, hPrp31, serologically defined breast cancer antigen NY-BR-99, PRPF31, PRP31)

Database

• OMIM: https://mirror.omim.org/entry/600105