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Protanomaly(CBP)

MedGen UID:
854688
Concept ID:
C3887980
Disease or Syndrome
Synonyms: CBP; COLORBLINDNESS, PARTIAL, PROTAN SERIES; PROTANOMALY; RED COLORBLINDNESS
SNOMED CT: Protanomaly (51445007)
 
HPO: HP:0200018
OMIM®: 303900

Definition

A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. [from HPO]

Conditions with this feature

Protan defect
MedGen UID:
56350
Concept ID:
C0155015
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) or blue plus red (deuteranopia; see 303800). 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

Poonam NS, Alam MS, Oberoi P, Mukherjee B
Indian J Ophthalmol 2022 Dec;70(12):4419-4426. doi: 10.4103/ijo.IJO_719_22. PMID: 36453357Free PMC Article
Chakrabarti S
Natl Med J India 2018 Mar-Apr;31(2):86-96. doi: 10.4103/0970-258X.253167. PMID: 30829224
Pascual-Camps I, Barranco-Gonzalez H, Aviñó-Martínez J, Silva E, Harto-Castaño M
J Pediatr Ophthalmol Strabismus 2018 Mar 1;55(2):85-92. Epub 2017 Dec 19 doi: 10.3928/01913913-20171117-01. PMID: 29257187

Recent clinical studies

Etiology

Zabel J, Przekoracka-Krawczyk A, Olszewski J, Michalak KP
PLoS One 2021;16(5):e0251903. Epub 2021 May 21 doi: 10.1371/journal.pone.0251903. PMID: 34019572Free PMC Article
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
Naresh S
Indian J Physiol Pharmacol 1995 Apr;39(2):127-30. PMID: 7649599

Diagnosis

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
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
Moreland JD, Westland S, Cheung V, Dain SJ
Ophthalmic Physiol Opt 2010 Sep;30(5):685-92. doi: 10.1111/j.1475-1313.2010.00761.x. PMID: 20883355
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

Therapy

Sun Y, Shevell SK
Vis Neurosci 2008 May-Jun;25(3):455-62. doi: 10.1017/S0952523808080346. PMID: 18598418

Prognosis

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
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
Sharpe LT, Stockman A, Jägle H, Knau H, Klausen G, Reitner A, Nathans J
J Neurosci 1998 Dec 1;18(23):10053-69. doi: 10.1523/JNEUROSCI.18-23-10053.1998. PMID: 9822760Free PMC Article
Drummond-Borg M, Deeb S, Motulsky AG
Am J Hum Genet 1988 Nov;43(5):675-83. PMID: 2847528Free PMC Article

Clinical prediction guides

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
Zabel J, Przekoracka-Krawczyk A, Olszewski J, Michalak KP
PLoS One 2021;16(5):e0251903. Epub 2021 May 21 doi: 10.1371/journal.pone.0251903. PMID: 34019572Free PMC Article
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

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