retinitis pigmentosa type 14 (RP14)

Pathology

• degeneration of retinal photoreceptor cells

Genetics

• autosomal recessive
• associated with defects in TULP1 gene

Clinical manifestations

• night vision blindness
• loss of midperipheral visual field
• loss of far peripheral visual field with progression & eventually loss of central vision

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/600132