choroideremia

(redirected from Bietti's crystalline corneoretinal dystrophy)

choroideremia

 [ko-roi″der-e´me-ah]
hereditary (X-linked) primary choroidal degeneration that, in males, eventually leads to blindness as degeneration of the retinal pigment epithelium progresses to complete atrophy; in females, it is nonprogressive and vision is usually normal.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

cho·roi·der·e·mi·a

(kō-roy-der-ē'mē-ă), [MIM*303100]
Progressive degeneration of the choroid in males, occasionally in females, beginning with peripheral pigmentary retinopathy, followed by atrophy of the retinal pigment epithelium and of the choriocapillaris, night blindness, progressive constriction of visual fields, and finally complete blindness; X-linked inheritance caused by mutation in the Rab escort protein-1 (REP1) gene on Xq; heterozygous females show a pigmentary retinopathy but without visual defect or peripheral progression.
[choroid + G. erēmia, absence]
Farlex Partner Medical Dictionary © Farlex 2012

choroideremia

An X-linked recessive, MIM 303100 hereditary retinal degeneration (other hereditary retinal degenerations include Refsum’s disease, gyrate atrophy and abetalipoproteinemia), characterised by progressive centripetal loss of visual fields and depth perception due to degeneration of the choroid and retina. It is caused by mutation of the CHM (formerly, REP-1) gene on chromosome Xq21 that encodes component A of the RAB geranylgeranyl transferase holoenzyme, which binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction.

Pathogenesis
Blindness is due to degeneration of choriocapillaris, retinal pigment epithelium and photoreceptors.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

choroideremia

Tapetochoroidal dystrophy A form of X-linked hereditary retinal degeneration–other hereditary retinal degenerations include Refsum's disease, gyrate atrophy and abetaipoproteinemia–characterized by a centripetal loss of visual fields due to a gene mutation in chromosome Xq21
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

cho·roi·der·e·mi·a

(kōr'oyd-ĕr-ē'mē-ă)
Progressive degeneration of the choroid in males, occasionally in females, beginning with peripheral pigmentary retinopathy, followed by atrophy of the retinal pigment epithelium and of the choriocapillaris, night blindness, progressive constriction of visual fields, and finally complete blindness; X-linked inheritance; heterozygous females show a pigmentary retinopathy but without visual defect or peripheral progression.
Synonym(s): progressive choroidal atrophy, progressive tapetochoroidal dystrophy.
[choroid + G.erēmia, absence]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

choroideremia 

A bilateral, X-linked, recessive inherited degeneration of the choroid and retinal pigment epithelium characterized by night blindness (nyctalopia) which begins in early youth. Most males are myopic. The condition is mild and non-progressive in females. Both males and females display a salt and pepper appearance of the fundus, but in males it advances to complete atrophy and eventually blindness. Syn. progressive choroidal atrophy; progressive tapetochoroidal atrophy. See chromosome; inheritance.
Millodot: Dictionary of Optometry and Visual Science, 7th edition. © 2009 Butterworth-Heinemann
References in periodicals archive ?
show in a multigeneration Chinese family that PRPF3associated autosomal dominant retinitis pigmentosa coexists with CYP4V2-associated Bietti's crystalline corneoretinal dystrophy. This further complicates the characterization of phenotypes of an autosomal dominant condition with an autosomal recessive condition which results in a more severe disease phenotype.
Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. Am J Ophthalmol.
Bietti's crystalline corneoretinal dystrophy (BCD) (MIM 210370) is an autosomal recessive retinal dystrophy that is characterized by numerous tiny glistening yellow-white crystals that are scattered at the posterior pole of the retina, progressive atrophy of the retinal pigment epithelium (RPE), and choroidal sclerosis.
Munier, "Bietti's crystalline corneoretinal dystrophy: a cross-sectional study," Retina, vol.