Condition: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA


rs1131690801 in CFAP410 gene and RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA PMID 26294103 2015 C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.

PMID 27548899 2016 Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.