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Choroideremia(CHM)

MedGen UID:
944
Concept ID:
C0008525
Disease or Syndrome
Synonyms: CHM; Progressive tapetochoroidal dystrophy
SNOMED CT: Choroideremia (75241009); Tapetochoroidal dystrophy (75241009)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: 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.
 
Gene (location): CHM (Xq21.2)
 
HPO: HP:0001139
Monarch Initiative: MONDO:0010557
OMIM®: 303100
Orphanet: ORPHA180

Disease characteristics

Excerpted from the GeneReview: Choroideremia
Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (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 reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination. [from GeneReviews]
Authors:
Ian M MacDonald  |  Stacey Hume  |  Yi Zhai, 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 MedlinePlus Genetics
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://medlineplus.gov/genetics/condition/choroideremia

Clinical features

From HPO
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 heterozygous (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 reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Hypopigmentation of the fundus
MedGen UID:
101805
Concept ID:
C0151891
Disease or Syndrome
Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).
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 degeneration
MedGen UID:
99273
Concept ID:
C0521683
Pathologic Function
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.
Retinal pigment epithelial mottling
MedGen UID:
347513
Concept ID:
C1857644
Finding
Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Granular macular appearance
MedGen UID:
870355
Concept ID:
C4024799
Finding
Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.
Chorioretinal atrophy
MedGen UID:
884881
Concept ID:
C4048273
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.
Nummular pigmentation of the fundus
MedGen UID:
892932
Concept ID:
C4072990
Finding
Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

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 heterozygous (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 reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination.
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.
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.
Choroideremia-deafness-obesity syndrome
MedGen UID:
763933
Concept ID:
C3551019
Disease or Syndrome
An X-linked retinal dystrophy characterized by choroideremia, 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 choroideremia carrier state.

Recent clinical studies

Etiology

Aleman TS, Huckfeldt RM, Serrano LW, Pearson DJ, Vergilio GK, McCague S, Marshall KA, Ashtari M, Doan TM, Weigel-DiFranco CA, Biron BS, Wen XH, Chung DC, Liu E, Ferenchak K, Morgan JIW, Pierce EA, Eliott D, Bennett J, Comander J, Maguire AM
Ophthalmology 2022 Oct;129(10):1177-1191. Epub 2022 Jun 15 doi: 10.1016/j.ophtha.2022.06.006. PMID: 35714735
Bozkaya D, Zou H, Lu C, Tsao NW, Lam BL
BMC Ophthalmol 2022 Jan 16;22(1):29. doi: 10.1186/s12886-022-02250-z. PMID: 35034620Free PMC Article
Fry LE, Patrício MI, Williams J, Aylward JW, Hewitt H, Clouston P, Xue K, Barnard AR, MacLaren RE
JAMA Ophthalmol 2020 Feb 1;138(2):128-135. doi: 10.1001/jamaophthalmol.2019.5071. PMID: 31855248Free PMC Article
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
Hariri AH, Ip MS, Girach A, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, Maclaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Stepien KE, Larsen M, Gorin MB, Meunier I, Webster AR, Sadda S; For Natural History of the Progression of Choroideremia (NIGHT) Study Group.
Br J Ophthalmol 2019 Jul;103(7):933-937. Epub 2018 Oct 8 doi: 10.1136/bjophthalmol-2018-312620. PMID: 30297337Free PMC Article

Diagnosis

Di Giosaffatte N, Valiante M, Tricarico S, Parise G, De Negri AM, Ricciotti G, Florean L, Paiardini A, Bottillo I, Grammatico P
Genes (Basel) 2022 Jul 17;13(7) doi: 10.3390/genes13071268. PMID: 35886051Free PMC Article
Kim JH, Han JW, Choi EW, Bang JH, Shin HJ, Jang MA, Lee JY, Choi JN, Chang HS, Park TK
J Korean Med Sci 2022 Jan 17;37(3):e5. doi: 10.3346/jkms.2022.37.e5. PMID: 35040292Free PMC Article
Martin-Gutierrez MP, Buckley TM, MacLaren RE
Eur J Ophthalmol 2022 Jul;32(4):NP30-NP33. Epub 2021 Feb 11 doi: 10.1177/1120672121994722. PMID: 33573424
Wood LJ, Jolly JK, Andrews CD, Wilson IR, Hickey D, Cehajic-Kapetanovic J, Maclaren RE
Clin Exp Optom 2021 Jan;104(1):90-94. doi: 10.1111/cxo.13087. PMID: 32372497
Ortiz-Ramirez GY, Villanueva-Mendoza C, Zenteno Ruiz JC, Reyes M, Cortés-González V
Ophthalmic Genet 2020 Dec;41(6):625-628. Epub 2020 Aug 24 doi: 10.1080/13816810.2020.1810283. PMID: 32835561

Therapy

Aleman TS, Huckfeldt RM, Serrano LW, Pearson DJ, Vergilio GK, McCague S, Marshall KA, Ashtari M, Doan TM, Weigel-DiFranco CA, Biron BS, Wen XH, Chung DC, Liu E, Ferenchak K, Morgan JIW, Pierce EA, Eliott D, Bennett J, Comander J, Maguire AM
Ophthalmology 2022 Oct;129(10):1177-1191. Epub 2022 Jun 15 doi: 10.1016/j.ophtha.2022.06.006. PMID: 35714735
Torm MEW, Eckmann-Hansen C, Christensen SK, Larsen M
Retin Cases Brief Rep 2022 Sep 1;16(5):663-666. Epub 2020 Sep 23 doi: 10.1097/ICB.0000000000001062. PMID: 33003127Free PMC Article
Kalatzis V, Roux AF, Meunier I
Mol Diagn Ther 2021 Nov;25(6):661-675. Epub 2021 Oct 18 doi: 10.1007/s40291-021-00558-y. PMID: 34661884
Wood LJ, Jolly JK, Andrews CD, Wilson IR, Hickey D, Cehajic-Kapetanovic J, Maclaren RE
Clin Exp Optom 2021 Jan;104(1):90-94. doi: 10.1111/cxo.13087. PMID: 32372497
Jones KD, Radziwon A, Birch DG, MacDonald IM
Ophthalmic Genet 2020 Aug;41(4):341-344. Epub 2020 May 22 doi: 10.1080/13816810.2020.1768557. PMID: 32441177Free PMC Article

Prognosis

Di Giosaffatte N, Valiante M, Tricarico S, Parise G, De Negri AM, Ricciotti G, Florean L, Paiardini A, Bottillo I, Grammatico P
Genes (Basel) 2022 Jul 17;13(7) doi: 10.3390/genes13071268. PMID: 35886051Free PMC Article
Young BK, Shen LL, Del Priore LV
Invest Ophthalmol Vis Sci 2021 Nov 1;62(14):10. doi: 10.1167/iovs.62.14.10. PMID: 34779822Free PMC Article
Fry LE, Patrício MI, Jolly JK, Xue K, MacLaren RE
Transl Vis Sci Technol 2021 Jul 1;10(8):12. doi: 10.1167/tvst.10.8.12. PMID: 34254989Free PMC Article
Stevanovic M, Cehajic Kapetanovic J, Jolly JK, MacLaren RE
Acta Ophthalmol 2020 May;98(3):e322-e327. Epub 2019 Nov 17 doi: 10.1111/aos.14281. PMID: 31736270
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

Clinical prediction guides

Di Giosaffatte N, Valiante M, Tricarico S, Parise G, De Negri AM, Ricciotti G, Florean L, Paiardini A, Bottillo I, Grammatico P
Genes (Basel) 2022 Jul 17;13(7) doi: 10.3390/genes13071268. PMID: 35886051Free PMC Article
Kim JH, Han JW, Choi EW, Bang JH, Shin HJ, Jang MA, Lee JY, Choi JN, Chang HS, Park TK
J Korean Med Sci 2022 Jan 17;37(3):e5. doi: 10.3346/jkms.2022.37.e5. PMID: 35040292Free PMC Article
Bozkaya D, Zou H, Lu C, Tsao NW, Lam BL
BMC Ophthalmol 2022 Jan 16;22(1):29. doi: 10.1186/s12886-022-02250-z. PMID: 35034620Free PMC Article
Martin-Gutierrez MP, Buckley TM, MacLaren RE
Eur J Ophthalmol 2022 Jul;32(4):NP30-NP33. Epub 2021 Feb 11 doi: 10.1177/1120672121994722. PMID: 33573424
Wood LJ, Jolly JK, Andrews CD, Wilson IR, Hickey D, Cehajic-Kapetanovic J, Maclaren RE
Clin Exp Optom 2021 Jan;104(1):90-94. doi: 10.1111/cxo.13087. PMID: 32372497

Recent systematic reviews

Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN
Genet Med 2022 Mar;24(3):521-534. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.013. PMID: 34906485
Shen LL, Ahluwalia A, Sun M, Young BK, Grossetta Nardini HK, Del Priore LV
Br J Ophthalmol 2021 Feb;105(2):271-278. Epub 2020 May 29 doi: 10.1136/bjophthalmol-2020-316028. PMID: 32471821Free PMC Article
Shen LL, Ahluwalia A, Sun M, Young BK, Grossetta Nardini HK, Del Priore LV
Ophthalmol Retina 2020 Aug;4(8):840-852. Epub 2020 Mar 14 doi: 10.1016/j.oret.2020.03.003. PMID: 32362554Free PMC Article

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