retinitis pigmentosa type 19 (RP19)

Introduction

Also see retinitis pigmentosa

Pathology

• degeneration of retinal photoreceptor cells
• choroidal atrophy

Genetics

• autosomal recessive
• associated with defects in ABCA4

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/601718