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Achromatopsia 7(ACHM7)

MedGen UID:
904646
Concept ID:
C4225297
Disease or Syndrome
Synonym: ACHM7
 
Gene (location): ATF6 (1q23.3)
 
Monarch Initiative: MONDO:0014677
OMIM®: 616517

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 manifestations 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, et. al.   view full author information

Additional description

From OMIM
Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by Kohl et al., 2015). For a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (216900).  http://www.omim.org/entry/616517

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.
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.
Central scotoma
MedGen UID:
57750
Concept ID:
C0152191
Finding
An area of depressed vision located at the point of fixation and that interferes with central vision.
Achromatopsia
MedGen UID:
57751
Concept ID:
C0152200
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 manifestations 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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Absent foveal reflex
MedGen UID:
602333
Concept ID:
C0423420
Finding
Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.
Macular atrophy
MedGen UID:
140841
Concept ID:
C0423421
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Foveal hypoplasia
MedGen UID:
393047
Concept ID:
C2673946
Finding
Underdevelopment of the fovea centralis.

Professional guidelines

PubMed

Arnegard S, Baraas RC, Neitz J, Hagen LA, Neitz M
Acta Ophthalmol 2022 Nov;100(7):805-812. Epub 2022 Feb 3 doi: 10.1111/aos.15103. PMID: 35113505Free PMC Article
Sun W, Li S, Xiao X, Wang P, Zhang Q
Mol Vis 2020;26:588-602. Epub 2020 Aug 22 PMID: 32913385Free PMC Article
Baker DR, Mendez MF, Townsend JC, Ilsen PF, Bright DC
J Am Optom Assoc 1997 Aug;68(8):483-94. PMID: 9279048

Recent clinical studies

Etiology

Eghrari AO, Bishop RJ, Ross RD, Davis B, Larbelee J, Amegashie F, Dolo RF, Prakalapakorn SG, Gaisie C, Gargu C, Sosu Y, Sackor J, Cooper PZ, Wallace A, Nyain R, Gray M, Kamara F, Burkholder B, Brady CJ, Ray V, Tawse KL, Yeung I, Neaton JD, Higgs ES, Lane HC, Reilly C, Sneller MC, Fallah MP
JAMA Netw Open 2021 Jan 4;4(1):e2032216. doi: 10.1001/jamanetworkopen.2020.32216. PMID: 33399856Free PMC Article
Weisschuh N, Obermaier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S
Hum Mutat 2020 Sep;41(9):1514-1527. Epub 2020 Jun 29 doi: 10.1002/humu.24064. PMID: 32531858
Oh JK, Ryu J, Lima de Carvalho JR Jr, Levi SR, Lee W, Tsamis E, Greenstein VC, Mahajan VB, Allikmets R, Tsang SH
Am J Ophthalmol 2020 Oct;218:40-53. Epub 2020 May 21 doi: 10.1016/j.ajo.2020.05.016. PMID: 32445700Free PMC Article
Georgiou M, Singh N, Kane T, Robson AG, Kalitzeos A, Hirji N, Webster AR, Dubra A, Carroll J, Michaelides M
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):40. doi: 10.1167/iovs.61.3.40. PMID: 32203983Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

Weisschuh N, Obermaier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S
Hum Mutat 2020 Sep;41(9):1514-1527. Epub 2020 Jun 29 doi: 10.1002/humu.24064. PMID: 32531858
Georgiou M, Singh N, Kane T, Robson AG, Kalitzeos A, Hirji N, Webster AR, Dubra A, Carroll J, Michaelides M
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):40. doi: 10.1167/iovs.61.3.40. PMID: 32203983Free PMC Article
Tirpack AR, Vanner EA, Sheheitli H, Mendoza CE, Grajewski A, Chang TC
J Glaucoma 2020 Feb;29(2):117-123. doi: 10.1097/IJG.0000000000001416. PMID: 31821182
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Therapy

Zhang Y, Ma J, Cheng S, Hu W
Aerosp Med Hum Perform 2022 Apr 1;93(4):362-367. doi: 10.3357/AMHP.5943.2022. PMID: 35354515
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP
Mol Ther 2021 Feb 3;29(2):464-488. Epub 2020 Dec 10 doi: 10.1016/j.ymthe.2020.12.007. PMID: 33309881Free PMC Article
Tirpack AR, Vanner EA, Sheheitli H, Mendoza CE, Grajewski A, Chang TC
J Glaucoma 2020 Feb;29(2):117-123. doi: 10.1097/IJG.0000000000001416. PMID: 31821182
Jafari R, Heydarian S, Karami H, Shektaei MM, Dailami KN, Amiri AA, Rezaee MR, Far AA
Indian J Ophthalmol 2015 Sep;63(9):710-5. doi: 10.4103/0301-4738.170986. PMID: 26632126Free PMC Article
Purvin VA, Chioran G
Arch Ophthalmol 1994 Mar;112(3):365-71. doi: 10.1001/archopht.1994.01090150095030. PMID: 8129663

Prognosis

Georgiou M, Singh N, Kane T, Robson AG, Kalitzeos A, Hirji N, Webster AR, Dubra A, Carroll J, Michaelides M
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):40. doi: 10.1167/iovs.61.3.40. PMID: 32203983Free PMC Article
Bayer L, Funk J, Töteberg-Harms M
Int Ophthalmol 2020 Mar;40(3):597-605. Epub 2019 Nov 8 doi: 10.1007/s10792-019-01218-1. PMID: 31705359
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article
Alpern M
Am J Optom Physiol Opt 1976 Jul;53(7):340-9. doi: 10.1097/00006324-197607000-00003. PMID: 1085566

Clinical prediction guides

Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434
Zhang Y, Ma J, Cheng S, Hu W
Aerosp Med Hum Perform 2022 Apr 1;93(4):362-367. doi: 10.3357/AMHP.5943.2022. PMID: 35354515
Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F
Int J Mol Sci 2021 Feb 7;22(4) doi: 10.3390/ijms22041681. PMID: 33562422Free PMC Article
Oh JK, Ryu J, Lima de Carvalho JR Jr, Levi SR, Lee W, Tsamis E, Greenstein VC, Mahajan VB, Allikmets R, Tsang SH
Am J Ophthalmol 2020 Oct;218:40-53. Epub 2020 May 21 doi: 10.1016/j.ajo.2020.05.016. PMID: 32445700Free PMC Article
Alpern M
Am J Optom Physiol Opt 1976 Jul;53(7):340-9. doi: 10.1097/00006324-197607000-00003. PMID: 1085566

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