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Choroideremia(CHM)

MedGen UID:
944
Concept ID:
C0008525
Disease or Syndrome
Synonyms: CHM; Progressive tapetochoroidal dystrophy
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
X-linked dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Choroideremia (75241009); Tapetochoroidal dystrophy (75241009)
 
Gene (location): CHM (Xq21.2)
OMIM®: 303100
HPO: HP:0001139
Orphanet: ORPHA180

Disease characteristics

Excerpted from the GeneReview: Choroideremia
Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in carrier females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be observed with careful fundus examination. These signs become more readily apparent after the second decade. [from GeneReviews]
Authors:
Ian M MacDonald  |  Stacey Hume  |  Stephanie Chan, et. al.   view full author information

Additional descriptions

From OMIM
Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye (Cremers et al., 1990). The characteristic lesion of choroideremia is chorioretinal scalloped atrophy in the midperipheral fundus, with preservation of the macula (Li et al., 2014). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the CHM and POU3F4 (300039) genes on Xq21. X-linked deafness-2 with stapes fixation (DFNX2; 304400) is also caused by mutation in the CHM gene.  http://www.omim.org/entry/303100
From GHR
Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in late adulthood.  https://ghr.nlm.nih.gov/condition/choroideremia

Clinical features

Choroideremia
MedGen UID:
944
Concept ID:
C0008525
Disease or Syndrome
Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in carrier females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be observed with careful fundus examination. These signs become more readily apparent after the second decade.
Nyctalopia
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
An inability to see clearly in dim light; due to a deficiency of vitamin A or to a retinal disorder.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Chorioretinal atrophy
MedGen UID:
99273
Concept ID:
C0521683
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.
Progressive visual loss
MedGen UID:
479327
Concept ID:
C3277697
Finding
A reduction of previously attained ability to see.
Chorioretinal degeneration
MedGen UID:
893032
Concept ID:
C4072869
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Choroideremia in Orphanet.

Conditions with this feature

Choroideremia
MedGen UID:
944
Concept ID:
C0008525
Disease or Syndrome
Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in carrier females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be observed with careful fundus examination. These signs become more readily apparent after the second decade.
Van Den Bosch syndrome
MedGen UID:
162920
Concept ID:
C0796192
Disease or Syndrome
Syndrome that is characterised by intellectual deficit, choroideraemia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.
Choroideremia with deafness and obesity syndrome
MedGen UID:
336796
Concept ID:
C1844836
Disease or Syndrome
An X-linked retinal dystrophy, characterised by choroideraemia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideraemia carrier state.
Cataract 6, multiple types
MedGen UID:
396229
Concept ID:
C1861825
Disease or Syndrome
Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical. The preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry.

Recent clinical studies

Etiology

Fu DJ, Xue K, Jolly JK, MacLaren RE
Acta Ophthalmol 2019 Jun;97(4):e589-e600. Epub 2018 Dec 21 doi: 10.1111/aos.13973. PMID: 30575280
Al-Qahtani AA, Ba-Ali S, Alabduljalil T, Coyner AS, Patel RC, Weleber RG, Girach A, Christensen SK, Larsen M, Pennesi ME, Yang P
Retina 2018 Sep;38(9):1725-1730. doi: 10.1097/IAE.0000000000001957. PMID: 29160785Free PMC Article
Ba-Ali S, Christensen SK, Sander B, Rosenberg T, Larsen M, Lund-Andersen H
Acta Ophthalmol 2017 Dec;95(8):809-814. Epub 2017 Mar 8 doi: 10.1111/aos.13394. PMID: 28271634
Zhu L, Cheng J, Zhou B, Wei C, Yang W, Jiang D, Ijaz I, Tan X, Chen R, Fu J
Mol Med Rep 2017 Mar;15(3):1157-1164. Epub 2017 Jan 13 doi: 10.3892/mmr.2017.6119. PMID: 28098911Free PMC Article
Lee SY, Yu WK, Lin PK
Invest Ophthalmol Vis Sci 2015 Feb 26;56(3):1887-93. doi: 10.1167/iovs.14-16302. PMID: 25722215

Diagnosis

Fu DJ, Xue K, Jolly JK, MacLaren RE
Acta Ophthalmol 2019 Jun;97(4):e589-e600. Epub 2018 Dec 21 doi: 10.1111/aos.13973. PMID: 30575280
Ouyang P, Li Y, Zhang F, Zhu C, Zou B, Le J, Zhang L
Mol Med Rep 2018 Jun;17(6):7918-7924. Epub 2018 Apr 5 doi: 10.3892/mmr.2018.8851. PMID: 29620233
Seitz IP, Jolly JK, Dominik Fischer M, Simunovic MP
Graefes Arch Clin Exp Ophthalmol 2018 Apr;256(4):665-673. Epub 2018 Feb 5 doi: 10.1007/s00417-018-3921-0. PMID: 29404760
Bae K, Song JS, Lee C, Kim NKD, Park WY, Kim BJ, Ki CS, Kim SJ
Ann Lab Med 2017 Sep;37(5):438-442. doi: 10.3343/alm.2017.37.5.438. PMID: 28643494Free PMC Article
Ba-Ali S, Christensen SK, Sander B, Rosenberg T, Larsen M, Lund-Andersen H
Acta Ophthalmol 2017 Dec;95(8):809-814. Epub 2017 Mar 8 doi: 10.1111/aos.13394. PMID: 28271634

Therapy

Xue K, Jolly JK, Barnard AR, Rudenko A, Salvetti AP, Patrício MI, Edwards TL, Groppe M, Orlans HO, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Downes SM, Seabra MC, MacLaren RE
Nat Med 2018 Oct;24(10):1507-1512. Epub 2018 Oct 8 doi: 10.1038/s41591-018-0185-5. PMID: 30297895
Patrício MI, Barnard AR, Xue K, MacLaren RE
Expert Opin Biol Ther 2018 Jul;18(7):807-820. Epub 2018 Jun 22 doi: 10.1080/14712598.2018.1484448. PMID: 29932012
Ouyang P, Li Y, Zhang F, Zhu C, Zou B, Le J, Zhang L
Mol Med Rep 2018 Jun;17(6):7918-7924. Epub 2018 Apr 5 doi: 10.3892/mmr.2018.8851. PMID: 29620233
Xue K, Oldani M, Jolly JK, Edwards TL, Groppe M, Downes SM, MacLaren RE
Invest Ophthalmol Vis Sci 2016 Jul 1;57(8):3674-84. doi: 10.1167/iovs.15-18364. PMID: 27403996Free PMC Article
Jolly JK, Groppe M, Birks J, Downes SM, MacLaren RE
Am J Ophthalmol 2015 Oct;160(4):822-31.e3. Epub 2015 Jun 29 doi: 10.1016/j.ajo.2015.06.018. PMID: 26133251

Prognosis

Fu DJ, Xue K, Jolly JK, MacLaren RE
Acta Ophthalmol 2019 Jun;97(4):e589-e600. Epub 2018 Dec 21 doi: 10.1111/aos.13973. PMID: 30575280
Xue K, Jolly JK, Barnard AR, Rudenko A, Salvetti AP, Patrício MI, Edwards TL, Groppe M, Orlans HO, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Downes SM, Seabra MC, MacLaren RE
Nat Med 2018 Oct;24(10):1507-1512. Epub 2018 Oct 8 doi: 10.1038/s41591-018-0185-5. PMID: 30297895
Al-Qahtani AA, Ba-Ali S, Alabduljalil T, Coyner AS, Patel RC, Weleber RG, Girach A, Christensen SK, Larsen M, Pennesi ME, Yang P
Retina 2018 Sep;38(9):1725-1730. doi: 10.1097/IAE.0000000000001957. PMID: 29160785Free PMC Article
Ba-Ali S, Christensen SK, Sander B, Rosenberg T, Larsen M, Lund-Andersen H
Acta Ophthalmol 2017 Dec;95(8):809-814. Epub 2017 Mar 8 doi: 10.1111/aos.13394. PMID: 28271634
Zhu L, Cheng J, Zhou B, Wei C, Yang W, Jiang D, Ijaz I, Tan X, Chen R, Fu J
Mol Med Rep 2017 Mar;15(3):1157-1164. Epub 2017 Jan 13 doi: 10.3892/mmr.2017.6119. PMID: 28098911Free PMC Article

Clinical prediction guides

Suzuki K, Gocho K, Akeo K, Kikuchi S, Kubota D, Katagiri S, Fujinami K, Tsunoda K, Iwata T, Yamaki K, Igarashi T, Nakano T, Takahashi H, Hayashi T, Kameya S
Ophthalmic Surg Lasers Imaging Retina 2019 Feb 1;50(2):76-85. doi: 10.3928/23258160-20190129-03. PMID: 30768214
Xue K, Jolly JK, Barnard AR, Rudenko A, Salvetti AP, Patrício MI, Edwards TL, Groppe M, Orlans HO, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Downes SM, Seabra MC, MacLaren RE
Nat Med 2018 Oct;24(10):1507-1512. Epub 2018 Oct 8 doi: 10.1038/s41591-018-0185-5. PMID: 30297895
Al-Qahtani AA, Ba-Ali S, Alabduljalil T, Coyner AS, Patel RC, Weleber RG, Girach A, Christensen SK, Larsen M, Pennesi ME, Yang P
Retina 2018 Sep;38(9):1725-1730. doi: 10.1097/IAE.0000000000001957. PMID: 29160785Free PMC Article
Jolly JK, Groppe M, Birks J, Downes SM, MacLaren RE
Am J Ophthalmol 2015 Oct;160(4):822-31.e3. Epub 2015 Jun 29 doi: 10.1016/j.ajo.2015.06.018. PMID: 26133251
Lee SY, Yu WK, Lin PK
Invest Ophthalmol Vis Sci 2015 Feb 26;56(3):1887-93. doi: 10.1167/iovs.14-16302. PMID: 25722215

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