choroideremia


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Related to choroideremia: gyrate atrophy

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.

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]

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.

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

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]

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.
References in periodicals archive ?
Barnard et al., "Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo," Journal of Molecular Medicine, vol.
Started by Mark's parents, Angels for Mark has put on concerts, car shows and more to aid the efforts of the Choroideremia Research Foundation, which sees 94% of all funds raised going to research initiatives.
Of the participants in Category 1 (diagnoses related to degeneration of macular area), 38% passed the driving test, as compared with 45% in Category 2 (diagnoses related to glaucoma), 38.5% in Category 3 (retinitis pigmentosa and choroideremia), and 64% in Category 4 (nonspecified).
Bianculli's memory be made to CHM (Choroideremia) Research Foundation, 23 East Brundeth St., Springfield, MA 01109-2110.
[17] examined the structural changes across the transition zone between relatively normal retina and severely affected retina in choroideremia (CHM) and the Stargardt disease (STGD), and compared these to the transition zone in RP using SD-OCT.
The participants reported the following diseases and disorders: retinitis pigmentosa, macular degeneration, glaucoma, choroideremia, Wagner's disease, Usher syndrome II, Coats' disease, and retinal detachment; one participant wore two ocular prostheses.
He said he was suffering from a degenerative condition called choroideremia. 'There is no serious prospect of a cure.
When I was 10 years old I was diagnosed with choroideremia. At 15 or 16,1 was getting to the stage where I had to give up cricket and tennis.
Nightstar now looks to have two attractive retinal gene therapy drugs with lead pivotal Phase III choroideremia enrolling on track, plus a Phase II expanding for the new XLRP blindness program this weekend which hasn't been in consensus estimates, Yee contends.
The study referenced NCT02670980 evaluates performance and safety of IRISII in 10 patients suffering from retinitis pigmentosa, Usher Syndrome, Cone-Rod dystrophy, choroideremia will be included and followed for a minimum of 18 months, with additional 18 months follow-up, subject to patient consent.
Choroideremia. Medical records of nine male patients with a previous diagnosis of choroideremia were reviewed; mean age was 23 years old, and mean BCVA at presentation was 20/30.
In this paper, posterior segment eye diseases of genetic origin are reviewed, and retinoblastoma, mitochondrial diseases, retinal dysplasia, retinitis pigmentosa, choroideremia, gyrate atrophy, Alstrom disease, ocular albinism, optic nerve hypoplasia, anophrhalmia/microphrhalmia and Leber's congenital amaurosis are covered.