Features include always present findings: Bone spicule pigmentation of the retina, Nyctalopia, Progressive visual loss, and Attenuation of retinal blood vessels and others; and common findings: Cortical cataract, Optic disc pallor, Cystoid macular edema, and Retinal pigment epithelial atrophy. 10 total HPO annotations.

KIAA1549 encodes KIAA1549 (1,950 aa). May play a role in photoreceptor function Highest expression in Brain Frontal Cortex BA9 (5.0 TPM) and Brain Cortex (4.9 TPM).

Retinitis pigmentosa 86 is strongly associated with mutations in the KIAA1549 gene on chromosome 7.

The KIAA1549 protein participates in KIAA1549(1-1749)-p-BRAF(381-766) fusion and KIAA1549(1-1749)-BRAF(381-766) fusion pathways.

KIAA1549 is classified as a druggable target (Clinically Actionable category) with score 0.0.

Genetic testing for KIAA1549 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 86 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 4 common features.

No clinical trials have been registered for retinitis pigmentosa 86.

27 publications have been identified in PubMed for retinitis pigmentosa 86. Research spans Epidemiology / Natural History (48%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (11%).