# Acromatopsia

> Página oficial: https://raras.org/doenca/acromatopsia
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 49382 — https://www.orpha.net/en/disease/detail/49382
- **CID-10**: H53.5
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Acromatopsia (ACHM) é uma doença rara da retina, de herança autossômica recessiva, caracterizada pela incapacidade de enxergar cores, movimentos involuntários dos olhos (nistagmo), sensibilidade intensa à luz (fotofobia) e visão muito baixa. Essas características surgem devido à ausência ou ao mau funcionamento das células cones na retina.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Autosomal recessive

## Sinais e sintomas (45 fenótipos HPO)

- **Distrofia corneana** — HPO: HP:0001131
- **Anormalidade da pigmentação retiniana** — HPO: HP:0007703
- **Eletrorretinograma indetectável adaptado à luz** — HPO: HP:0030465 (Muito frequente (99-80%))
- **Nistagmo pendular** — HPO: HP:0012043 (Muito frequente (99-80%))
- **Monocromacia** — HPO: HP:0007803 (Muito frequente (99-80%))
- **Morfologia macular anormal** — HPO: HP:0001103 (Ocasional (29-5%))
- **Ausência de reflexo foveal** — HPO: HP:0030825 (Frequente (79-30%))
- **Acuidade visual reduzida** — HPO: HP:0007663 (Frequente (79-30%))
- **Defeito da visão de cores** — HPO: HP:0000551 (Muito frequente (99-80%))
- **Atenuação dos vasos sanguíneos da retina** — HPO: HP:0007843 (Ocasional (29-5%))
- **Atrofia do epitélio pigmentar da retina** — HPO: HP:0007722 (Raro (<5%))
- **Fotofobia** — HPO: HP:0000613 (Muito frequente (99-80%))
- **Reflexo pupilar à luz anormal** — HPO: HP:0007695 (Ocasional (29-5%))
- **Hipermetropia** — HPO: HP:0000540 (Frequente (79-30%))
- **Perda da camada retiniana interna na OCT macular** — HPO: HP:0030620 (Muito frequente (99-80%))
- **Anormalidade da refração** — HPO: HP:0000539 (Muito frequente (99-80%))
- **Pigmentação mosqueada do epitélio pigmentar da retina** — HPO: HP:0007814 (Ocasional (29-5%))
- **Anormalidade no teste de visão de cores** — HPO: HP:0030584 (Muito frequente (99-80%))
- **Escotoma central** — HPO: HP:0000603 (Frequente (79-30%))
- **Miopia** — HPO: HP:0000545 (Frequente (79-30%))
- **Hipoplasia da fóvea** — HPO: HP:0007750 (Frequente (79-30%))
- **Fixação visual excêntrica** — HPO: HP:0025549 (Ocasional (29-5%))
- **Nistagmo** — HPO: HP:0000639
- **Catarata** — HPO: HP:0000518
- **Acuidade visual severamente reduzida** — HPO: HP:0001141
- **Acromatopsia** — HPO: HP:0011516
- **Nistagmo pendular horizontal** — HPO: HP:0007811
- **Anormalidade da pigmentação macular** — HPO: HP:0008002
- **Discromatopsia** — HPO: HP:0007641
- **Alta miopia** — HPO: HP:0011003
- **Monocromatismo de cone azul** — HPO: HP:0007939
- **Acuidade visual moderadamente reduzida** — HPO: HP:0030515
- **Deficiência visual** — HPO: HP:0000505
- **Atrofia macular** — HPO: HP:0007401
- **Nictalopia** — HPO: HP:0000662
- **Adelgaçamento retiniano** — HPO: HP:0030329
- **Astigmatismo miópico** — HPO: HP:0500041
- **Reflexo foveal opaco** — HPO: HP:0034362
- **Atrofia peripapilar** — HPO: HP:0500087
- **Hemeralopia** — HPO: HP:0012047
- _...e mais 5 sintomas. Ver https://raras.org/doenca/acromatopsia._

## Genes associados (9)

- **GNAT2** — Guanine nucleotide-binding protein G(t) subunit alpha-2 [Disease-causing germline mutation(s) in]
  - Função: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual
- **OPN1MW** — Medium-wave-sensitive opsin 1 [Disease-causing germline mutation(s) in]
  - Função: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal
- **OPN1LW** — Long-wave-sensitive opsin 1 [Disease-causing germline mutation(s) in]
  - Função: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal
- **CNGA3** — Cyclic nucleotide-gated channel alpha-3 [Disease-causing germline mutation(s) in]
  - Função: Pore-forming subunit of the cone cyclic nucleotide-gated channel. Mediates cone photoresponses at bright light converting transient changes in intracellular cGMP levels into electrical signals. In the
- **CNGB3** — Cyclic nucleotide-gated channel beta-3 [Disease-causing germline mutation(s) in]
  - Função: Pore-forming subunit of the cone cyclic nucleotide-gated channel. Mediates cone photoresponses at bright light converting transient changes in intracellular cGMP levels into electrical signals. In the
- **RPGR** — X-linked retinitis pigmentosa GTPase regulator [Candidate gene tested in]
  - Função: Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:20631154). GEF activity towards RAB8A may fac
- **ATF6** — Cyclic AMP-dependent transcription factor ATF-6 alpha [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 alpha), which is embedded in the endoplasmic reticulum membrane (PubMed:10564271, PubMed:11158310,
- **PDE6C** — Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' [Disease-causing germline mutation(s) in]
  - Função: As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP
- **PDE6H** — Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma [Disease-causing germline mutation(s) in]
  - Função: Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones

## Ensaios clínicos ativos (5)

- **NCT07085533** [RECRUITING]: Natural History Study of Inherited Retinal Diseases — https://clinicaltrials.gov/study/NCT07085533
- **NCT02435940** [RECRUITING]: Inherited Retinal Degenerative Disease Registry — https://clinicaltrials.gov/study/NCT02435940
- **NCT02610582** [ACTIVE_NOT_RECRUITING]: Safety and Efficacy of rAAV.hCNGA3 Gene Therapy in Patients With CNGA3-linked Achromatopsia — https://clinicaltrials.gov/study/NCT02610582
- **NCT02935517** [ACTIVE_NOT_RECRUITING]: Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia (A Clarity Clinical Trial) — https://clinicaltrials.gov/study/NCT02935517
- **NCT02599922** [ACTIVE_NOT_RECRUITING]: Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia (A Clarity Clinical Trial) — https://clinicaltrials.gov/study/NCT02599922
- **NCT04041232** [SUSPENDED]: PBA Use for Treatment of ATF6-/- Patients — https://clinicaltrials.gov/study/NCT04041232
- **NCT03278873** [TERMINATED]: Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 and CNGA3 — https://clinicaltrials.gov/study/NCT03278873
- **NCT04124185** [COMPLETED]: Natural History Study for Achromatopsia — https://clinicaltrials.gov/study/NCT04124185
- **NCT03001310** [COMPLETED]: Gene Therapy for Achromatopsia (CNGB3) — https://clinicaltrials.gov/study/NCT03001310
- **NCT03758404** [COMPLETED]: Gene Therapy for Achromatopsia (CNGA3) — https://clinicaltrials.gov/study/NCT03758404

## Doenças relacionadas (por similaridade fenotípica)

- [Doença da visão cromática](https://raras.org/doenca/doenca-da-visao-cromatica) — ORPHA:98658 — 45 sintomas em comum
- [Distrofia dos cones e bastonetes](https://raras.org/doenca/distrofia-dos-cones-e-bastonetes) — ORPHA:1872 — 29 sintomas em comum
- [Retinite pigmentosa](https://raras.org/doenca/retinite-pigmentosa) — ORPHA:791 — 24 sintomas em comum
- [Amaurose congênita de Leber](https://raras.org/doenca/amaurose-congenita-de-leber) — ORPHA:65 — 23 sintomas em comum
- [Cegueira noturna estacionária congênita](https://raras.org/doenca/cegueira-noturna-estacionaria-congenita) — ORPHA:215 — 17 sintomas em comum
- [Doença de Stargardt](https://raras.org/doenca/doenca-de-stargardt) — ORPHA:827 — 17 sintomas em comum
- [Ciliopatia retiniana](https://raras.org/doenca/ciliopatia-retiniana) — ORPHA:156165 — 16 sintomas em comum
- [Monocromatismo de cones azuis](https://raras.org/doenca/monocromatismo-de-cones-azuis) — ORPHA:16 — 15 sintomas em comum
- [Distrofia dos cones progressiva](https://raras.org/doenca/distrofia-dos-cones-progressiva) — ORPHA:1871 — 14 sintomas em comum
- [Síndrome de Hermansky-Pudlak](https://raras.org/doenca/sindrome-de-hermansky-pudlak) — ORPHA:79430 — 14 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Acromatopsia. Disponível em: https://raras.org/doenca/acromatopsia
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