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Achromatopsia

Achromatopsia, also known as rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy. Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition. The term is also used to describe cerebral achromatopsia…

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Causes
Congenital malfunction of the Visual phototransduction pathway
Diagnostic method
Electroretinography
Other names
Rod Monochromacy
Specialty
Ophthalmology
Symptoms
Monochromacy, Day blindness, Photophobia

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Overview

Signs and symptoms

Cause

Pathophysiology

Management

Epidemiology

Blue cone monochromacy

Cerebral achromatopsia

Terminology

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Map overview Semantic statistics

Achromatopsia

Nodes77
Edges76
Triples99
Avg. degree1.97
Density0.025974
Components1

How this topic connects Entity context

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Achromatopsia

Top relations

related to ACHM2 · 15
Achromatopsia → At, Ca2, CNGA3, CNGB3, Curiously, One, Other, Others, S1, Such, T224R, T369S, When, While, Y181C
related to Cause · 13
Achromatopsia → ACHM2, ACHM3, ACHM4, ACHM5, ACHM6, ACHM7, CNGA3, CNGB3, GNAT2, OMIM, PDE6C, PDEH, There
related to Pathophysiology · 12
Achromatopsia → Ca2, CNGA3, CNGB3, CNGs, Coassembly, Decreasing, In, L-cis-diltiazem, Na, Native, The, When
related to ACHM4 · 11
Achromatopsia → As, CNG3, G-protein, GDP, GMP, GNAT2, GTP, Presumably, The, This, Upon
related to Other accommodations · 9
Achromatopsia → By, Eyeborg, In, SeeKey, Some, This, To, US, While
related to Blue cone monochromacy · 6
Achromatopsia → As, BCM, Blue, It, OPN1LW, OPN1MW
related to Cerebral achromatopsia · 6
Achromatopsia → Cerebral, Color, Damage, If, It, V4
related to External links · 5
Achromatopsia → Achromatopsia Archived, MedicineNetAchromatopsia, Merriam-WebsterAchromatopsia, NCBIThe Achromatopsia Network, Wayback Machine
related to Gene therapy · 5
Achromatopsia → As, CNGA3, Gene, In July, Several
related to Epidemiology · 4
Achromatopsia → However, Micronesian, Pingelap, This

Important terminology Word statistics

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Important terminology

color cgmp monochromacy mutations visual symptoms citation needed channels result cone also cnga3 cngb3 achromats condition acuity incomplete syndrome eyeborg

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
AchromatopsiaCausesCongenital malfunction of the Visual phototransduction pathway1.00infobox
AchromatopsiaDiagnostic methodElectroretinography1.00infobox
AchromatopsiaFrequency.mw-parser-output .sfrac{white-space:nowrap}.mw-parser-output .sfrac.tion,.mw-parser-output .sfrac .tion{display:inline-block;vertical-align:-0.5em;font-size:85%;text-align:cent…1.00infobox
AchromatopsiaOther namesRod Monochromacy1.00infobox
AchromatopsiaSpecialtyOphthalmology1.00infobox
AchromatopsiaSymptomsMonochromacy, Day blindness, Photophobia1.00infobox
Achromatopsiais aform of acquired color blindness that is caused by damage to the cerebral cortex0.90text
Achromatopsiarelated to ACHM2While0.60section
Achromatopsiarelated to ACHM2CNGA30.60section
Achromatopsiarelated to ACHM2Curiously0.60section
Achromatopsiarelated to ACHM2T369S0.60section
Achromatopsiarelated to ACHM2CNGB30.60section

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    Min side: 3
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