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Deuteranomaly(CBD)

MedGen UID:
854646
Concept ID:
C3887938
Disease or Syndrome
Synonyms: CBD; Colorblindness, partial, deutan series; DEUTAN COLORBLINDNESS; Deutan defect; GREEN COLORBLINDNESS
SNOMED CT: Deutan defect (77479002); Deuteranomaly (77479002)
 
Gene (location): OPN1MW (Xq28)
 
HPO: HP:0011520
OMIM®: 303800

Definition

Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; 613522), 530 nm (green cones; 300821), and 560 nm (red cones; 300822). Comparison by neural circuits of light absorption by the 3 classes of cone photoreceptors allows perception of red, yellow, green, and blue colors individually or in various combinations. Dichromatic color vision is severely defective color vision based on the use of only 2 types of photoreceptors, blue plus green (protanopia; see 303900) or blue plus red (deuteranopia). Anomalous trichromacy is trichromatic color vision based on a blue, green, and an anomalous red-like photoreceptor (protanomaly), or a blue, red, and an anomalous green-like photoreceptor (deuteranomaly). The color vision defect is generally mild but may in certain cases be severe. Common variation in red-green color vision exists among both normal and color-deficient individuals (review by Deeb, 2005). [from OMIM]

Clinical features

From HPO
Deuteranomaly
MedGen UID:
854646
Concept ID:
C3887938
Disease or Syndrome
Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; 613522), 530 nm (green cones; 300821), and 560 nm (red cones; 300822). Comparison by neural circuits of light absorption by the 3 classes of cone photoreceptors allows perception of red, yellow, green, and blue colors individually or in various combinations. Dichromatic color vision is severely defective color vision based on the use of only 2 types of photoreceptors, blue plus green (protanopia; see 303900) or blue plus red (deuteranopia). Anomalous trichromacy is trichromatic color vision based on a blue, green, and an anomalous red-like photoreceptor (protanomaly), or a blue, red, and an anomalous green-like photoreceptor (deuteranomaly). The color vision defect is generally mild but may in certain cases be severe. Common variation in red-green color vision exists among both normal and color-deficient individuals (review by Deeb, 2005).

Conditions with this feature

Deuteranomaly
MedGen UID:
854646
Concept ID:
C3887938
Disease or Syndrome
Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; 613522), 530 nm (green cones; 300821), and 560 nm (red cones; 300822). Comparison by neural circuits of light absorption by the 3 classes of cone photoreceptors allows perception of red, yellow, green, and blue colors individually or in various combinations. Dichromatic color vision is severely defective color vision based on the use of only 2 types of photoreceptors, blue plus green (protanopia; see 303900) or blue plus red (deuteranopia). Anomalous trichromacy is trichromatic color vision based on a blue, green, and an anomalous red-like photoreceptor (protanomaly), or a blue, red, and an anomalous green-like photoreceptor (deuteranomaly). The color vision defect is generally mild but may in certain cases be severe. Common variation in red-green color vision exists among both normal and color-deficient individuals (review by Deeb, 2005).

Professional guidelines

PubMed

Scheibner H, Kremer T
Vision Res 1996 Oct;36(19):3157-66. doi: 10.1016/0042-6989(95)00020-8. PMID: 8917776

Recent clinical studies

Etiology

Pfäffli OA, Tamási B, Hanson JVM, Gerth-Kahlert C
Acta Ophthalmol 2020 Feb;98(1):e113-e120. Epub 2019 Aug 30 doi: 10.1111/aos.14219. PMID: 31469512
Kremers J, Bhatt D
Doc Ophthalmol 2016 Oct;133(2):109-120. Epub 2016 Sep 21 doi: 10.1007/s10633-016-9561-y. PMID: 27655146
Boehm AE, MacLeod DI, Bosten JM
J Vis 2014 Nov 20;14(13):19. doi: 10.1167/14.13.19. PMID: 25413625Free PMC Article
Pramanik T, Khatiwada B, Pandit R
Nepal Med Coll J 2012 Dec;14(4):334-6. PMID: 24579547
Jordan G, Mollon JD
Vision Res 1993 Jul;33(11):1495-508. doi: 10.1016/0042-6989(93)90143-k. PMID: 8351822

Diagnosis

Somers LP, Franklin A, Bosten JM
Vision Res 2024 May;218:108390. Epub 2024 Mar 25 doi: 10.1016/j.visres.2024.108390. PMID: 38531192
Boehm AE, Bosten J, MacLeod DIA
Vision Res 2021 Nov;188:85-95. Epub 2021 Jul 20 doi: 10.1016/j.visres.2021.05.011. PMID: 34293614
Karepov S, Ellenbogen T
Opt Lett 2020 Mar 15;45(6):1379-1382. doi: 10.1364/OL.384970. PMID: 32163975
Pfäffli OA, Tamási B, Hanson JVM, Gerth-Kahlert C
Acta Ophthalmol 2020 Feb;98(1):e113-e120. Epub 2019 Aug 30 doi: 10.1111/aos.14219. PMID: 31469512
Cole BL, Nathan J
Clin Exp Optom 2002 Sep;85(5):300-5. doi: 10.1111/j.1444-0938.2002.tb03086.x. PMID: 12366351

Therapy

Jordan G, Deeb SS, Bosten JM, Mollon JD
J Vis 2010 Jul 1;10(8):12. doi: 10.1167/10.8.12. PMID: 20884587
Sun Y, Shevell SK
Vis Neurosci 2008 May-Jun;25(3):455-62. doi: 10.1017/S0952523808080346. PMID: 18598418
Takahashi Y, Fujiwara T, Yagi K, Seino M
Epilepsia 1999;40 Suppl 4:23-7. doi: 10.1111/j.1528-1157.1999.tb00902.x. PMID: 10487169

Prognosis

Somers LP, Franklin A, Bosten JM
Vision Res 2024 May;218:108390. Epub 2024 Mar 25 doi: 10.1016/j.visres.2024.108390. PMID: 38531192
Boehm AE, Bosten J, MacLeod DIA
Vision Res 2021 Nov;188:85-95. Epub 2021 Jul 20 doi: 10.1016/j.visres.2021.05.011. PMID: 34293614
Pfäffli OA, Tamási B, Hanson JVM, Gerth-Kahlert C
Acta Ophthalmol 2020 Feb;98(1):e113-e120. Epub 2019 Aug 30 doi: 10.1111/aos.14219. PMID: 31469512
Boehm AE, MacLeod DI, Bosten JM
J Vis 2014 Nov 20;14(13):19. doi: 10.1167/14.13.19. PMID: 25413625Free PMC Article
Shevell SK, Sun Y, Neitz M
Vision Res 2008 Nov;48(26):2599-603. Epub 2008 Apr 18 doi: 10.1016/j.visres.2008.03.001. PMID: 18423511Free PMC Article

Clinical prediction guides

Somers LP, Franklin A, Bosten JM
Vision Res 2024 May;218:108390. Epub 2024 Mar 25 doi: 10.1016/j.visres.2024.108390. PMID: 38531192
Boehm AE, Bosten J, MacLeod DIA
Vision Res 2021 Nov;188:85-95. Epub 2021 Jul 20 doi: 10.1016/j.visres.2021.05.011. PMID: 34293614
Pfäffli OA, Tamási B, Hanson JVM, Gerth-Kahlert C
Acta Ophthalmol 2020 Feb;98(1):e113-e120. Epub 2019 Aug 30 doi: 10.1111/aos.14219. PMID: 31469512
Boehm AE, MacLeod DI, Bosten JM
J Vis 2014 Nov 20;14(13):19. doi: 10.1167/14.13.19. PMID: 25413625Free PMC Article
Mellott ML, Brown J Jr, Fingert JH, Taylor CM, Keech RV, Sheffield VC, Stone EM
Arch Ophthalmol 1999 Dec;117(12):1630-3. doi: 10.1001/archopht.117.12.1630. PMID: 10604668

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