KEGG DISEASE: Autosomal dominant neovascular inflammatory vitreoretinopathy

KEGG

DISEASE: Autosomal dominant neovascular inflammatory vitreoretinopathy

Entry

H01798                      Disease

Name

Autosomal dominant neovascular inflammatory vitreoretinopathy

Description

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an inherited autoimmune uveitis and vitreoretinal degeneration characterized by inflammatory cells in the vitreous and anterior chamber, photoreceptor degeneration, vitreous hemorrhages, epiretinal membranes (ERMs), and proliferative iris and retinal neovascularization. It is caused by mutations in CAPN5 gene, encoding an intracellular protease expressed in the retina. In most patients the diagnosis is difficult to make before age 40. Electroretinography can help make the diagnosis in younger individuals in whom the only other sign is the presence of vitreous cells.

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
    9B78  Certain specified retinal disorders
     H01798  Autosomal dominant neovascular inflammatory vitreoretinopathy

Gene

CAPN5 [HSA:726] [KO:K08574]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Cham A, Bansal M, Banda HK, Kwon Y, Tlucek PS, Bassuk AG, Tsang SH, Sobol WM, Folk JC, Yeh S, Mahajan VB

Title

Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.

Journal

Clin Ophthalmol 10:1187-97 (2016)
DOI:10.2147/OPTH.S103324

Reference

Authors

Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC

Title

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.

Journal

Hum Mol Genet 1:685-9 (1992)
DOI:10.1093/hmg/1.9.685

Reference

Authors

Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM

Title

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

Journal

PLoS Genet 8:e1003001 (2012)
DOI:10.1371/journal.pgen.1003001

LinkDB

» Japanese version

DBGET integrated database retrieval system