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Cone monochromatism(BCM)

MedGen UID:
87386
Concept ID:
C0339537
Congenital Abnormality
Synonyms: BCM; Blue cone monochromacy; Blue-Mono-Cone-Monochromatic Type Colorblindness; Color blindness blue mono cone monochromatic type; Incomplete achromatopsia; X-chromosome-linked achromatopsia
SNOMED CT: Blue cone monochromatism (789676005); Cone monochromatism (789676005)
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.
 
Genes (locations): OPN1LW (Xq28); OPN1MW (Xq28)
 
HPO: HP:0007939
Monarch Initiative: MONDO:0010563
OMIM®: 303700
Orphanet: ORPHA16

Definition

Blue cone (OPN1SW; 613522) monochromatism is a rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia (review by Gardner et al., 2009). There is evidence for progression of disease in some BCM families (Nathans et al., 1989; Ayyagari et al., 2000; Michaelides et al., 2005). [from OMIM]

Additional description

From MedlinePlus Genetics
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://medlineplus.gov/genetics/condition/color-vision-deficiency

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Pendular nystagmus
MedGen UID:
78770
Concept ID:
C0271388
Disease or Syndrome
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
Cone monochromatism
MedGen UID:
87386
Concept ID:
C0339537
Congenital Abnormality
Blue cone (OPN1SW; 613522) monochromatism is a rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia (review by Gardner et al., 2009). There is evidence for progression of disease in some BCM families (Nathans et al., 1989; Ayyagari et al., 2000; Michaelides et al., 2005).
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.
Abnormality of macular pigmentation
MedGen UID:
892991
Concept ID:
C4024756
Anatomical Abnormality
Abnormality of macular or foveal pigmentation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCone monochromatism
Follow this link to review classifications for Cone monochromatism in Orphanet.

Conditions with this feature

Cone monochromatism
MedGen UID:
87386
Concept ID:
C0339537
Congenital Abnormality
Blue cone (OPN1SW; 613522) monochromatism is a rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia (review by Gardner et al., 2009). There is evidence for progression of disease in some BCM families (Nathans et al., 1989; Ayyagari et al., 2000; Michaelides et al., 2005).

Professional guidelines

PubMed

Hanna K, Nieves J, Dowd C, Bender KO, Sharma P, Singh B, Renz M, Ver Hoeve JN, Cepeda D, Gelfman CM, Riley BE, Grishanin RN
Mol Ther 2023 Jul 5;31(7):2014-2027. Epub 2023 Mar 16 doi: 10.1016/j.ymthe.2023.03.011. PMID: 36932675Free PMC Article
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.232. PMID: 21267011Free PMC Article

Curated

Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.232. PMID: 21267011Free PMC Article

Recent clinical studies

Etiology

Haseoka T, Inagaki R, Kurata K, Arai S, Takagi Y, Suzuki H, Hikoya A, Nishimura K, Hotta Y, Sato M
Jpn J Ophthalmol 2021 Jan;65(1):23-29. Epub 2020 Nov 2 doi: 10.1007/s10384-020-00782-9. PMID: 33135089
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M
Br J Ophthalmol 2016 Jan;100(1):115-21. Epub 2015 Mar 13 doi: 10.1136/bjophthalmol-2014-306505. PMID: 25770143Free PMC Article
Michaelides M, Johnson S, Simunovic MP, Bradshaw K, Holder G, Mollon JD, Moore AT, Hunt DM
Eye (Lond) 2005 Jan;19(1):2-10. doi: 10.1038/sj.eye.6701391. PMID: 15094734
Kellner U, Wissinger B, Tippmann S, Kohl S, Kraus H, Foerster MH
Graefes Arch Clin Exp Ophthalmol 2004 Sep;242(9):729-35. doi: 10.1007/s00417-004-0921-z. PMID: 15069569
Michaelides M, Hunt DM, Moore AT
Br J Ophthalmol 2004 Feb;88(2):291-7. doi: 10.1136/bjo.2003.027102. PMID: 14736794Free PMC Article

Diagnosis

Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M
Br J Ophthalmol 2016 Jan;100(1):115-21. Epub 2015 Mar 13 doi: 10.1136/bjophthalmol-2014-306505. PMID: 25770143Free PMC Article
Moskowitz A, Hansen RM, Akula JD, Eklund SE, Fulton AB
Invest Ophthalmol Vis Sci 2009 Feb;50(2):950-8. Epub 2008 Sep 29 doi: 10.1167/iovs.08-2544. PMID: 18824728Free PMC Article
Gottlob I
Curr Opin Ophthalmol 2001 Oct;12(5):378-83. doi: 10.1097/00055735-200110000-00010. PMID: 11588502
Trimarchi F
Curr Opin Neurol Neurosurg 1992 Oct;5(5):740-3. PMID: 1392147
Weiss AH, Biersdorf WR
J Pediatr Ophthalmol Strabismus 1989 Sep-Oct;26(5):218-23. doi: 10.3928/0191-3913-19890901-04. PMID: 2795409

Therapy

Mascio AA, Roman AJ, Cideciyan AV, Sheplock R, Wu V, Garafalo AV, Sumaroka A, Pirkle S, Kohl S, Wissinger B, Jacobson SG, Barbur JL
Transl Vis Sci Technol 2023 Jan 3;12(1):25. doi: 10.1167/tvst.12.1.25. PMID: 36692456Free PMC Article
Semenov EP, Sheplock R, Roman AJ, McGuigan DB, Swider M, Cideciyan AV, Jacobson SG
Transl Vis Sci Technol 2020 Dec;9(13):13. Epub 2020 Dec 8 doi: 10.1167/tvst.9.13.13. PMID: 33344057Free PMC Article
Lorenz B, Wegscheider E, Hamel C, Preising MN, Stieger K
Ophthalmic Res 2017;58(4):194-202. Epub 2017 Jul 12 doi: 10.1159/000477257. PMID: 28697496
Luo X, Cideciyan AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG
PLoS One 2015;10(4):e0125700. Epub 2015 Apr 24 doi: 10.1371/journal.pone.0125700. PMID: 25909963Free PMC Article

Prognosis

Orosz O, Rajta I, Vajas A, Takács L, Csutak A, Fodor M, Kolozsvári B, Resch M, Sényi K, Lesch B, Szabó V, Berta A, Balogh I, Losonczy G
Invest Ophthalmol Vis Sci 2017 Mar 1;58(3):1834-1842. doi: 10.1167/iovs.16-21405. PMID: 28358949
Cideciyan AV, Roman AJ, Jacobson SG, Yan B, Pascolini M, Charng J, Pajaro S, Nirenberg S
Invest Ophthalmol Vis Sci 2016 Jun 1;57(7):3211-21. doi: 10.1167/iovs.16-19586. PMID: 27309625Free PMC Article
Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG
Hum Gene Ther 2013 Dec;24(12):993-1006. Epub 2013 Oct 30 doi: 10.1089/hum.2013.153. PMID: 24067079Free PMC Article
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.232. PMID: 21267011Free PMC Article
Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ
Mol Vis 2009;15:876-84. Epub 2009 May 1 PMID: 19421413Free PMC Article

Clinical prediction guides

Haseoka T, Inagaki R, Kurata K, Arai S, Takagi Y, Suzuki H, Hikoya A, Nishimura K, Hotta Y, Sato M
Jpn J Ophthalmol 2021 Jan;65(1):23-29. Epub 2020 Nov 2 doi: 10.1007/s10384-020-00782-9. PMID: 33135089
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M
Br J Ophthalmol 2016 Jan;100(1):115-21. Epub 2015 Mar 13 doi: 10.1136/bjophthalmol-2014-306505. PMID: 25770143Free PMC Article
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.232. PMID: 21267011Free PMC Article
Ohmi G, Gottlob I, Wizov SS, Reinecke RD
Binocul Vis Strabismus Q 1999;14(4):291-8. PMID: 10652380
Trimarchi F
Curr Opin Neurol Neurosurg 1992 Oct;5(5):740-3. PMID: 1392147

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