KEGG   DISEASE: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
Entry
H02288                      Disease                                
Name
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
Description
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) is an autosomal dominant retinal dystrophy with progressive loss of vision. It has been suggested that a missense mutation in ITM2B causes RDGCA.
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
     H02288  Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
Gene
ITM2B [HSA:9445] [KO:K18264]
Other DBs
ICD-11: 9B70
OMIM: 616079
Reference
PMID:24026677
  Authors
Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Leveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Said S, Bhattacharya SS, Sahel JA, Zeitz C
  Title
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
  Journal
Hum Mol Genet 23:491-501 (2014)
DOI:10.1093/hmg/ddt439
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