Format

Send to:

Choose Destination

Links from PubMed

Protan defect(CBP)

MedGen UID:
56350
Concept ID:
C0155015
Disease or Syndrome
Synonyms: CBP; COLORBLINDNESS, PARTIAL, PROTAN SERIES; COLORBLINDNESS, PROTAN; Protanopia; Red colorblindness; Red-blind
Modes of inheritance:
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 recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Protan defect (51445007); Protanomaly (51445007); Protanopia (51445007)
 
Gene (location): OPN1LW (Xq28)
OMIM®: 303900
HPO: HP:0200018

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]

Additional description

From GHR
Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. Red-green color vision defects are the most common form of color vision deficiency. Affected individuals have trouble distinguishing between some shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause problems with differentiating shades of blue and green and cause difficulty distinguishing dark blue from black. These two forms of color vision deficiency disrupt color perception but do not affect the sharpness of vision (visual acuity).A less common and more severe form of color vision deficiency called blue cone monochromacy causes very poor visual acuity and severely reduced color vision. Affected individuals have additional vision problems, which can include increased sensitivity to light (photophobia), involuntary back-and-forth eye movements (nystagmus), and nearsightedness (myopia). Blue cone monochromacy is sometimes considered to be a form of achromatopsia, a disorder characterized by a partial or total lack of color vision with other vision problems.  https://ghr.nlm.nih.gov/condition/color-vision-deficiency

Clinical features

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).

Term Hierarchy

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).
Bornholm eye disease
MedGen UID:
463611
Concept ID:
C3159311
Disease or Syndrome
Bornholm eye disease consists of X-linked high myopia, amblyopia, and deuteranopia. Associated signs include optic nerve hypoplasia, reduced electroretinographic (ERG) flicker, and nonspecific retinal pigment abnormalities (Schwartz et al., 1990).

Recent clinical studies

Etiology

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

Bieber ML, Werner JS, Knoblauch K, Neitz J, Neitz M
Vision Res 1998 Nov;38(21):3293-7. PMID: 9893840
Zrenner E, Nowicki J, Adamczyk R
Doc Ophthalmol 1986 Jan 31;62(1):5-12. 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. PMID: 9893840

Clinical prediction guides

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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center