Features include always present findings: Retinal pigment epithelial mottling, Nyctalopia, Posterior staphyloma, and Attenuation of retinal blood vessels and others; and common findings: Bone spicule pigmentation of the retina, Short stature, Reduced visual acuity, and Truncal obesity and others. 13 total HPO annotations.

CFAP410 encodes cilia and flagella associated protein 410 (256 aa). Plays a role in cilia formation and/or maintenance. Plays a role in the regulation of cell morphology and cytoskeletal organization. Involved in DNA damage repair Highest expression in Thyroid (46.0 TPM) and Pituitary (42.8 TPM).

Retinal dystrophy with or without macular staphyloma is associated with mutations in the CFAP410 gene on chromosome 21.

CFAP410 is classified as a druggable target with score 0.0.

Genetic testing for CFAP410 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinal dystrophy with or without macular staphyloma has been reported in the published literature.

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

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for retinal dystrophy with or without macular staphyloma.

207 publications have been identified in PubMed for retinal dystrophy with or without macular staphyloma. Research spans Basic Science / Preclinical (26%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (17%).