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

/cho·roid·er·e·mia/ (ko-roi″der-e´me-ah) an X-linked primary choroidal degeneration which, 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.

choroideremia

[kôr′oidərē′mē·ə]
Etymology: Gk, chorion, skin + eidos, form + erēmia, destitution
hereditary primary degeneration of the retina, transmitted as an X-linked trait and beginning in the first decade of life. In males, the earliest symptom is usually night blindness, followed by constricted visual field and eventual blindness as the degeneration of the pigment epithelium of the retina progresses to complete atrophy. In females, it is nonprogressive; usually there is normal vision and often an atypical pigmentary retinopathy.

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 ?
For patients interested in participating in choroideremia trials please follow this link: http://www.
The Choroideremia Research Foundation (CRF) has truly been instrumental in bringing about this study," said Jeffrey D.
Prior to the formation of the Choroideremia Research Foundation in 2000 there was very little hope that the progressive vision loss resulting from CHM could be halted, yet now only 14 years after the group began,a treatment for CHM is entering US clinical trials for the first time.
For more information on Choroideremia and the Choroideremia Research Foundation, visit http://www.
Throughout my career's work developing genetic therapies for inherited retinal dystrophies, I have had my target set on a number of different conditions, in particular, choroideremia," said Dr.
Expanding upon an earlier collaboration around SPK-RPE65, in December of 2014 Spark and Penn, through Penn's technology commercialization organization, the Penn Center for Innovation (PCI), entered into an exclusive license agreement to certain Penn-owned intellectual property rights, including assets related to the choroideremia program.
SPK-CHM is a gene therapy product candidate for the potential treatment of choroideremia (CHM), an inherited retinal dystrophy that causes progressive vision loss, ultimately leading to complete blindness.
Despite this, he completed a crusade to run one marathon a month in 2012 and raised more than $90,000 for the Choroideremia Research Foundation.
Scott is a true visionary in his efforts to raise awareness of his eye disease, Choroideremia, and also in his fundraising work to combat this disease," said Greg Laird, CEO and Managing Partner of the event organizer, US Road Sports.
Scott created the idea of running 12 marathons in 12 months in 12 states, running all of them blindfolded, to raise research money for Choroideremia.