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Gene Review

PBCRA1  -  progressive bifocal chorioretinal atrophy 1

Homo sapiens

Synonyms: CRAPB, PBCRA
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Disease relevance of PBCRA1


High impact information on PBCRA1


Other interactions of PBCRA1

  • Results: The PBCRA is an autosomal dominant chorioretinal dystrophy of early onset characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow progression [4].


  1. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Griesinger, I.B., Sieving, P.A., Ayyagari, R. Invest. Ophthalmol. Vis. Sci. (2000) [Pubmed]
  2. Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Kelsell, R.E., Godley, B.F., Evans, K., Tiffin, P.A., Gregory, C.Y., Plant, C., Moore, A.T., Bird, A.C., Hunt, D.M. Hum. Mol. Genet. (1995) [Pubmed]
  3. Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). Gehrig, A., Felbor, U., Kelsell, R.E., Hunt, D.M., Maumenee, I.H., Weber, B.H. J. Med. Genet. (1998) [Pubmed]
  4. Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q. Godley, B.F., Tiffin, P.A., Evans, K., Kelsell, R.E., Hunt, D.M., Bird, A.C. Ophthalmology (1996) [Pubmed]
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