retinitis pigmentosa 88

Term ID

DOID:0112145

Synonyms

• RP88

Definition

A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. (3)

References

• OMIM:618826

Ontology

Human Disease   ( DOID:0112145 )