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Achromatopsia

MedGen UID:
57751
Concept ID:
C0152200
Disease or Syndrome
Synonyms: Rod monochromacy; Rod monochromatism
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Total color blindness (56852002); Achromatopsia (56852002); Monochromatism (56852002); Complete color blindness (56852002); Achromatism (56852002)
 
Genes (locations): PDE6C (10q23.33); PDE6H (12p12.3)
Related genes: CNGB3, GNAT2, CNGA3
HPO: HP:0007803
Orphanet: ORPHA49382

Disease characteristics

Excerpted from the GeneReview: Achromatopsia
Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The symptoms are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography. [from GeneReviews]
Authors:
Susanne Kohl  |  Herbert Jägle  |  Bernd Wissinger   view full author information

Additional description

From GHR
Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.Achromatopsia also involves other problems with vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals can also have farsightedness (hyperopia) or, less commonly, nearsightedness (myopia). These vision problems develop in the first few months of life.Achromatopsia is different from the more common forms of color vision deficiency (also called color blindness), in which people can perceive color but have difficulty distinguishing between certain colors, such as red and green.  https://ghr.nlm.nih.gov/condition/achromatopsia

Conditions with this feature

Retinohepatoendocrinologic syndrome
MedGen UID:
340315
Concept ID:
C1849399
Disease or Syndrome
Syndrome that is characterised by total colour blindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.
Achromatopsia 3
MedGen UID:
340413
Concept ID:
C1849792
Disease or Syndrome
Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The symptoms are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.
Cone-rod dystrophy amelogenesis imperfecta
MedGen UID:
341805
Concept ID:
C1857588
Disease or Syndrome

Recent clinical studies

Etiology

Langlo CS, Erker LR, Parker M, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Pennesi ME, Lam BL, Chulay JD, Dubra A, Hauswirth WW, Wilson DJ, Carroll J; ACHM-001 study group.
Retina 2017 Oct;37(10):1956-1966. doi: 10.1097/IAE.0000000000001434. PMID: 28145975Free PMC Article
Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH
Proc Natl Acad Sci U S A 2017 Jan 10;114(2):400-405. Epub 2016 Dec 27 doi: 10.1073/pnas.1606387114. PMID: 28028229Free PMC Article
Greenberg JP, Sherman J, Zweifel SA, Chen RW, Duncker T, Kohl S, Baumann B, Wissinger B, Yannuzzi LA, Tsang SH
JAMA Ophthalmol 2014 Apr 1;132(4):437-45. doi: 10.1001/jamaophthalmol.2013.7987. PMID: 24504161Free PMC Article
Fahim AT, Khan NW, Zahid S, Schachar IH, Branham K, Kohl S, Wissinger B, Elner VM, Heckenlively JR, Jayasundera T
Am J Ophthalmol 2013 Dec;156(6):1211-1219.e2. Epub 2013 Aug 20 doi: 10.1016/j.ajo.2013.06.033. PMID: 23972307
Wang I, Khan NW, Branham K, Wissinger B, Kohl S, Heckenlively JR
Doc Ophthalmol 2012 Dec;125(3):229-33. Epub 2012 Aug 19 doi: 10.1007/s10633-012-9350-1. PMID: 22903242

Diagnosis

Ueno S, Nakanishi A, Sayo A, Kominami T, Ito Y, Hayashi T, Tsunoda K, Iwata T, Terasaki H
Doc Ophthalmol 2017 Apr;134(2):141-147. Epub 2017 Feb 14 doi: 10.1007/s10633-017-9577-y. PMID: 28197754
Langlo CS, Erker LR, Parker M, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Pennesi ME, Lam BL, Chulay JD, Dubra A, Hauswirth WW, Wilson DJ, Carroll J; ACHM-001 study group.
Retina 2017 Oct;37(10):1956-1966. doi: 10.1097/IAE.0000000000001434. PMID: 28145975Free PMC Article
Kuniyoshi K, Muraki-Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A, Tsunoda K, Iwata T, Ohji M, Shimomura Y
Jpn J Ophthalmol 2016 May;60(3):187-97. Epub 2016 Feb 5 doi: 10.1007/s10384-016-0424-6. PMID: 27040408
Yu XX, Rego RE Jr, Shechtman D
Clin Exp Optom 2014 Nov;97(6):507-10. Epub 2014 Jul 3 doi: 10.1111/cxo.12175. PMID: 24995800
Yang P, Michaels KV, Courtney RJ, Wen Y, Greninger DA, Reznick L, Karr DJ, Wilson LB, Weleber RG, Pennesi ME
JAMA Ophthalmol 2014 Jul;132(7):823-31. doi: 10.1001/jamaophthalmol.2014.685. PMID: 24676353

Therapy

Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E; RD-CURE Consortium.
Invest Ophthalmol Vis Sci 2017 Feb 1;58(2):821-832. doi: 10.1167/iovs.16-20427. PMID: 28159970
Langlo CS, Erker LR, Parker M, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Pennesi ME, Lam BL, Chulay JD, Dubra A, Hauswirth WW, Wilson DJ, Carroll J; ACHM-001 study group.
Retina 2017 Oct;37(10):1956-1966. doi: 10.1097/IAE.0000000000001434. PMID: 28145975Free PMC Article
Ye GJ, Budzynski E, Sonnentag P, Nork TM, Miller PE, McPherson L, Ver Hoeve JN, Smith LM, Arndt T, Mandapati S, Robinson PM, Calcedo R, Knop DR, Hauswirth WW, Chulay JD
Hum Gene Ther Clin Dev 2016 Mar;27(1):27-36. doi: 10.1089/humc.2015.163. PMID: 27003752Free PMC Article
Banin E, Gootwine E, Obolensky A, Ezra-Elia R, Ejzenberg A, Zelinger L, Honig H, Rosov A, Yamin E, Sharon D, Averbukh E, Hauswirth WW, Ofri R
Mol Ther 2015 Sep;23(9):1423-33. Epub 2015 Jun 19 doi: 10.1038/mt.2015.114. PMID: 26087757Free PMC Article
Zein WM, Jeffrey BG, Wiley HE, Turriff AE, Tumminia SJ, Tao W, Bush RA, Marangoni D, Wen R, Wei LL, Sieving PA
Invest Ophthalmol Vis Sci 2014 Sep 9;55(10):6301-8. doi: 10.1167/iovs.14-14860. PMID: 25205868Free PMC Article

Prognosis

Zein WM, Jeffrey BG, Wiley HE, Turriff AE, Tumminia SJ, Tao W, Bush RA, Marangoni D, Wen R, Wei LL, Sieving PA
Invest Ophthalmol Vis Sci 2014 Sep 9;55(10):6301-8. doi: 10.1167/iovs.14-14860. PMID: 25205868Free PMC Article
Aboshiha J, Luong V, Cowing J, Dubis AM, Bainbridge JW, Ali RR, Webster AR, Moore AT, Fitzke FW, Michaelides M
Invest Ophthalmol Vis Sci 2014 Aug 28;55(10):6340-9. doi: 10.1167/iovs.14-14910. PMID: 25168900Free PMC Article
Aboshiha J, Dubis AM, Cowing J, Fahy RT, Sundaram V, Bainbridge JW, Ali RR, Dubra A, Nardini M, Webster AR, Moore AT, Rubin G, Carroll J, Michaelides M
Invest Ophthalmol Vis Sci 2014 Aug 7;55(9):5733-43. doi: 10.1167/iovs.14-14937. PMID: 25103266Free PMC Article
Yang P, Michaels KV, Courtney RJ, Wen Y, Greninger DA, Reznick L, Karr DJ, Wilson LB, Weleber RG, Pennesi ME
JAMA Ophthalmol 2014 Jul;132(7):823-31. doi: 10.1001/jamaophthalmol.2014.685. PMID: 24676353
Fahim AT, Khan NW, Zahid S, Schachar IH, Branham K, Kohl S, Wissinger B, Elner VM, Heckenlively JR, Jayasundera T
Am J Ophthalmol 2013 Dec;156(6):1211-1219.e2. Epub 2013 Aug 20 doi: 10.1016/j.ajo.2013.06.033. PMID: 23972307

Clinical prediction guides

Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E; RD-CURE Consortium.
Invest Ophthalmol Vis Sci 2017 Feb 1;58(2):821-832. doi: 10.1167/iovs.16-20427. PMID: 28159970
Abozaid MA, Langlo CS, Dubis AM, Michaelides M, Tarima S, Carroll J
Adv Exp Med Biol 2016;854:277-83. doi: 10.1007/978-3-319-17121-0_37. PMID: 26427422Free PMC Article
Yang P, Michaels KV, Courtney RJ, Wen Y, Greninger DA, Reznick L, Karr DJ, Wilson LB, Weleber RG, Pennesi ME
JAMA Ophthalmol 2014 Jul;132(7):823-31. doi: 10.1001/jamaophthalmol.2014.685. PMID: 24676353
Greenberg JP, Sherman J, Zweifel SA, Chen RW, Duncker T, Kohl S, Baumann B, Wissinger B, Yannuzzi LA, Tsang SH
JAMA Ophthalmol 2014 Apr 1;132(4):437-45. doi: 10.1001/jamaophthalmol.2013.7987. PMID: 24504161Free PMC Article
Fahim AT, Khan NW, Zahid S, Schachar IH, Branham K, Kohl S, Wissinger B, Elner VM, Heckenlively JR, Jayasundera T
Am J Ophthalmol 2013 Dec;156(6):1211-1219.e2. Epub 2013 Aug 20 doi: 10.1016/j.ajo.2013.06.033. PMID: 23972307

Recent systematic reviews

Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D
Ophthalmology 2015 May;122(5):997-1007. Epub 2015 Jan 21 doi: 10.1016/j.ophtha.2014.11.025. PMID: 25616768
Bouvier SE, Engel SA
Cereb Cortex 2006 Feb;16(2):183-91. Epub 2005 Apr 27 doi: 10.1093/cercor/bhi096. PMID: 15858161
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF
Ophthalmology 1998 Jul;105(7):1274-80. doi: 10.1016/S0161-6420(98)97033-6. PMID: 9663233

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