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Condition report · Ophthalmological

Achromatopsia

Achromatopsia is a rare retinal alteration, transmitted in an autosomal recessive manner and characterized by partial or complete color blindness, photophobia, nystagmus (involuntary and repetitive movements of the eyeballs) and severe reduction of visual acuity.

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The 6 conditions we analyse

Achromatopsia

Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.

Genes analysed

Also known as

ACHM; complete or incomplete color blindness; complete or incomplete colour blindness; Pingelapese blindness; Rod monochromacy; Rod monochromatism; total color blindness; total colour blindness

Includes 6 related subtypes ↓
  • achromatopsia 2
  • achromatopsia 3
  • achromatopsia 4
  • achromatopsia 6
  • achromatopsia 7
  • blue cone monochromacy
MONDO:0018852Orphanet 49382MedGen 57751

CNGB3-Related Retinopathy

Autosomal recessive

A cone disorder caused by changes in both copies of CNGB3, the most common cause of achromatopsia.

Genes analysed

Also known as

ACHM1; ACHM1 (formerly); ACHM1, formerly; ACHM3; achromatopsia 3; achromatopsia caused by mutation in CNGB3; achromatopsia type 3; achromatopsia with myopia; CNGB3 achromatopsia; CNGB3 retinopathy; RMCH1; RMCH1 (formerly); rod monochromacy 1; Rod monochromacy 1 (formerly); rod monochromacy 1, formerly; rod monochromatism 1; Rod monochromatism 1 (formerly); rod monochromatism 1, formerly; total colorblindness with myopia

Includes 1 related subtype ↓
  • achromatopsia 3
MONDO:0100446

CNGA3-Related Retinopathy

Autosomal recessive

A cone disorder caused by changes in both copies of CNGA3, a common cause of achromatopsia.

Genes analysed

Also known as

ACHM2; achromatopsia 2; achromatopsia caused by mutation in CNGA3; achromatopsia type 2; CNGA3 achromatopsia; colorblindness, total; RMCH2; rod monochromacy 2; rod monochromatism 2

Includes 1 related subtype ↓
  • achromatopsia 2
MONDO:0800102

GNAT2-Related Retinopathy

Autosomal recessive

A cone disorder caused by changes in both copies of GNAT2.

Genes analysed

Includes 1 related subtype ↓
  • achromatopsia 4
MONDO:0800392

PDE6C-Related Retinopathy

Autosomal recessive

A cone disorder caused by changes in both copies of PDE6C.

Genes analysed

Includes 2 related subtypes ↓
  • achromatopsia 5
  • cone dystrophy 4
MONDO:1040028

ATF6-Related Retinopathy

Autosomal recessive

A cone disorder caused by changes in both copies of ATF6.

Genes analysed

Also known as

ACHM7; achromatopsia 7; achromatopsia caused by mutation in ATF6; achromatopsia type 7; ATF6 achromatopsia; ATF6 retinopathy

Includes 1 related subtype ↓
  • achromatopsia 7
MONDO:0100447

Other ophthalmological conditions

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