KEGG DISEASE: Retinal dystrophy with or without macular staphyloma

KEGG

DISEASE: Retinal dystrophy with or without macular staphyloma

Entry

H02914                      Disease

Name

Retinal dystrophy with or without macular staphyloma

Description

Retinal dystrophy with or without macular staphyloma (RDMS) is an autosomal recessive early-onset retinal dystrophy. It has been reported that mutations in CFAP410 cause this disease. CFAP410 encodes a ciliary protein localized in the photoreceptor primary cilium, and is consequently associated with ciliary maintenance, formation, and DNA repair.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H02914  Retinal dystrophy with or without macular staphyloma

Gene

CFAP410 [HSA:755] [KO:K23456]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W, Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K, Iwata T

Title

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

Journal

Invest Ophthalmol Vis Sci 57:4255-63 (2016)
DOI:10.1167/iovs.16-19450

Reference

Authors

Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ

Title

C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.

Journal

Br J Ophthalmol 99:1725-31 (2015)
DOI:10.1136/bjophthalmol-2015-307277

Reference

Authors

Chiu N, Lee W, Liu PK, Levi SR, Wang HH, Chen N, Kang EY, Seo GH, Lee H, Liu L, Wu WC, Tsai SH, Wang NK

Title

A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature.

Journal

Ophthalmic Genet 43:378-384 (2022)
DOI:10.1080/13816810.2021.2010773

LinkDB

» Japanese version

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