Retinal Dystrophy with or without Macular Staphyloma
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Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W, Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K, Iwata T. Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy. Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4255-63.
Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ. C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. Br J Ophthalmol. 2015 Dec;99(12):1725-31.