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Protan defect(CBP)

MedGen UID:
56350
Concept ID:
C0155015
Disease or Syndrome
Synonyms: CBP; COLORBLINDNESS, PARTIAL, PROTAN SERIES; COLORBLINDNESS, PROTAN; Red color blindness; Red colorblindness
SNOMED CT: Protan defect (51445007)
 
Gene (location): OPN1LW (Xq28)
 
Monarch Initiative: MONDO:0010565
OMIM®: 303900
Orphanet: ORPHA319691

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) 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). [from OMIM]

Clinical features

From HPO
Protanomaly
MedGen UID:
854688
Concept ID:
C3887980
Disease or Syndrome
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.

Professional guidelines

PubMed

Deeb SS, Lindsey DT, Hibiya Y, Sanocki E, Winderickx J, Teller DY, Motulsky AG
Am J Hum Genet 1992 Oct;51(4):687-700. PMID: 1415215Free PMC Article

Recent clinical studies

Etiology

Ilhan C, Sekeroglu MA, Doguizi S, Yilmazbas P
Int Ophthalmol 2019 Apr;39(4):797-801. Epub 2018 Mar 2 doi: 10.1007/s10792-018-0881-7. PMID: 29500697
Barton FB, Fong DS, Knatterud GL; ETDRS Research Group
Am J Ophthalmol 2004 Jul;138(1):119-24. doi: 10.1016/j.ajo.2004.02.009. PMID: 15234290

Diagnosis

Ilhan C, Sekeroglu MA, Doguizi S, Yilmazbas P
Int Ophthalmol 2019 Apr;39(4):797-801. Epub 2018 Mar 2 doi: 10.1007/s10792-018-0881-7. PMID: 29500697
Bieber ML, Werner JS, Knoblauch K, Neitz J, Neitz M
Vision Res 1998 Nov;38(21):3293-7. doi: 10.1016/s0042-6989(98)00067-4. PMID: 9893840
Zrenner E, Nowicki J, Adamczyk R
Doc Ophthalmol 1986 Jan 31;62(1):5-12. doi: 10.1007/BF00140540. PMID: 3956358

Therapy

Alabdelmoneam M
Optometry 2011 Sep;82(9):543-8. Epub 2011 Jun 15 doi: 10.1016/j.optm.2011.01.013. PMID: 21680257
Barton FB, Fong DS, Knatterud GL; ETDRS Research Group
Am J Ophthalmol 2004 Jul;138(1):119-24. doi: 10.1016/j.ajo.2004.02.009. PMID: 15234290

Prognosis

Bieber ML, Werner JS, Knoblauch K, Neitz J, Neitz M
Vision Res 1998 Nov;38(21):3293-7. doi: 10.1016/s0042-6989(98)00067-4. PMID: 9893840

Clinical prediction guides

Bieber ML, Werner JS, Knoblauch K, Neitz J, Neitz M
Vision Res 1998 Nov;38(21):3293-7. doi: 10.1016/s0042-6989(98)00067-4. PMID: 9893840
Jaeger W, Schneider VJ
Mod Probl Ophthalmol 1976;17:143-6. PMID: 1085859

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