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Tritanopia
ORPHA:88629CID-10 · H53.5CID-11 · 9D44OMIM 190900DOENÇA RARA

A tritanopia é uma forma extremamente rara de daltonismo caracterizada por uma deficiência seletiva da visão azul.

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Introdução

O que você precisa saber de cara

📋

A tritanopia é uma forma extremamente rara de daltonismo caracterizada por uma deficiência seletiva da visão azul.

Publicações científicas
123 artigos
Último publicado: 2025

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
4.8
Europe
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: H53.5
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Características mais comuns

55%prev.
Tritanomalia
Frequente (79-30%)
55%prev.
Morfologia retiniana anormal
Frequente (79-30%)
55%prev.
Anormalidade no teste de visão de cores
Frequente (79-30%)
17%prev.
Fotofobia
Ocasional (29-5%)
17%prev.
Acuidade visual reduzida
Ocasional (29-5%)
17%prev.
Nistagmo pendular
Ocasional (29-5%)
10sintomas
Frequente (3)
Ocasional (3)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 características clínicas mais associadas, ordenadas por frequência.

TritanomaliaTritanomaly
Frequente (79-30%)55%
Morfologia retiniana anormalAbnormal retinal morphology
Frequente (79-30%)55%
Anormalidade no teste de visão de coresColor vision test abnormality
Frequente (79-30%)55%
FotofobiaPhotophobia
Ocasional (29-5%)17%
Acuidade visual reduzidaReduced visual acuity
Ocasional (29-5%)17%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico123PubMed
Últimos 10 anos14publicações
Pico20233 papers
Linha do tempo
2025Hoje · 2026📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

OPN1SWShort-wave-sensitive opsin 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal (Probable). Required for the maintenance of cone outer segment organization in the ventral retina, but not essential for the maintenance of functioning cone photoreceptors (By similarity). Involved in ensuring correct abundance and localization of retinal membrane proteins (By similarity). May increase spectral sensitivity in dim light (By similarity)

LOCALIZAÇÃO

Cell membranePhotoreceptor inner segmentCell projection, cilium, photoreceptor outer segmentCytoplasm, perinuclear region

VIAS BIOLÓGICAS (3)
OpsinsG alpha (i) signalling eventsThe retinoid cycle in cones (daylight vision)
MECANISMO DE DOENÇA

Tritan color blindness

A disorder of vision characterized by a selective deficiency of blue spectral sensitivity.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Muscular
5.5 TPM
Artéria tibial
5.4 TPM
Aorta
5.2 TPM
Cólon sigmoide
5.0 TPM
Esôfago - Junção
4.4 TPM
OUTRAS DOENÇAS (1)
blue color blindness
HGNC:1012UniProt:P03999

Variantes genéticas (ClinVar)

35 variantes patogênicas registradas no ClinVar.

🧬 OPN1SW: GRCh37/hg19 7q31.32-36.1(chr7:122190535-149944340)x1 ()
🧬 OPN1SW: GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 ()
🧬 OPN1SW: GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1 ()
🧬 OPN1SW: Single allele ()
🧬 OPN1SW: GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 3 variantes classificadas pelo ClinVar.

3
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
NC_000016.10:g.54716967_54716968ins[54716967_55565004;AGCTAACAAGTAATACCTAACAGTTA... [Pathogenic]
IRX6: NC_000016.10:g.54801236_55533834dup [Pathogenic]
CRNDE: NC_000016.10:g.54893325_55501091dup [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Tritanopia

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Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
15 papers (10 anos)
#1

Enhancing Ishihara and educational images using machine learning: toward accessible learning for colorblind individuals.

Frontiers in artificial intelligence2025

Color Vision Deficiency (CVD) affects over 300 million individuals worldwide, with protanopia and deuteranopia being the most common subtypes, causing red-green confusion. This study leverages machine learning to (a) classify reference (considered as normal vision) and simulated protanopia and deuteranopia Ishihara plate images, (b) generate corresponding enhanced versions of these images, and (c) provide improved textbook diagrams (from NCERT books) and other pseudochromatic figures for CVD students, validated through feedback from diagnosed individuals. Tritanopia and milder forms of CVD were excluded in this study. A dataset of 1,400 Ishihara plates was processed to simulate protanopia and deuteranopia perception via standard Red Green Blue (sRGB) to long-, medium-, and short-wavelength cone (LMS) modeling. Enhanced images were generated using a daltonization function defined by the error between reference and simulated images, with enhancement strength (α) optimized to maximize contrast gain while minimizing distortion. Feature embeddings from ResNet-50, EfficientNet-B0, and DenseNet-201 were fused and reduced via PCA, followed by One-vs-All (OvA) (classifiers: linear support vector machine, logistic regression, and decision tree), random forest, gradient boosting, and neural network. Results showed optimal enhancement at α = 0.54 for deuteranopia and 0.64 for protanopia, achieving contrast gains of 69.6 and 64.3, respectively, with minimal color distortion (ΔE ≈ 4.9) and negligible clipping (<0.002). The OvA strategy achieved 99.7% accuracy, while MLP reached 100% across metrics. Surveys with 15 diagnosed students confirmed substantial perceptual improvement: recognition of previously unreadable digits and symbols increased from <20% to full visibility, with mean ratings above 4/5 for enhanced images. The OvA technique integrated with daltonization can assist in enhancing Ishihara and educational images in real time.

#2

Research on the Accessibility of Different Colour Schemes for Web Resources for People with Colour Blindness.

Journal of imaging2025 Aug 11

This study is devoted to the analysis of the perception of colour schemes of web resources by users with different types of colour blindness (colour vision deficiency). The purpose of this study is to develop recommendations for choosing the optimal colour scheme for web resource design that will ensure the comfortable perception of content for the broadest possible audience, including users with colour vision deficiency of various types (deuteranopia and deuteranomaly, protanopia and protanomaly, tritanopia, and tritanomaly). This article presents the results of a survey of people with different colour vision deficiencies regarding the accessibility of web resources created using different colour schemes. The colour deviation value ∆E was calculated to objectively assess changes in the perception of different colour groups by people with colour vision impairments. The conclusions of this study emphasise the importance of taking into account the needs of users with colour vision impairments when developing web resources. Specific recommendations for choosing the best colour schemes for websites are also offered, which will help increase the accessibility and effectiveness of web content for users with different types of colour blindness.

#3

Assessing the Impact of Simulated Color Vision Deficiency on Ophthalmologists' Ability to Differentiate between Choroidal Melanoma and Choroidal Nevus.

Journal of clinical medicine2024 Jun 20

Background: Color vision deficiency (CVD) is an often-overlooked issue within the medical community, and its consequences remain insufficiently explored. We aim to evaluate how CVD affects diagnostic accuracy and distinguish between malignant choroidal melanoma and benign choroidal nevus among ophthalmologists. Methods: In this cross-sectional study, we engaged ophthalmologists through a web-based survey distributed via the professional ophthalmology society's social media channels. The survey encompassed a series of three fundus images representing normal fundus, choroidal nevus, and choroidal melanoma. Each image underwent simulation for the three primary types of CVD-protanopia, deuteranopia, and tritanopia-alongside a non-simulated version. Results: The study included 41 participants, averaging 40 years of age (±9.2), comprising 28 (68%) men and 13 (32%) women. Significantly lower rates of identifying orange pigments were observed in simulated protanopia images compared to non-simulated ones (p = 0.038). In simulated deutranopia images, the recognition of melanotic lesions was notably reduced compared to non-simulated images (p = 0.048). No such limitation was observed for tritanopia. However, participants retained their ability to identify subretinal fluid and estimate tumor thickness in simulated and non-simulated images. Concerning simulated images of choroidal nevi, participants misdiagnosed nevi as choroidal melanoma in 37% of cases in simulated protanopia nevi images and 41% in simulated deutranopia nevi images. This resulted in unnecessary referrals of benign lesions as malignant, emphasizing the potential for mistaken diagnoses. Nevertheless, almost all simulated images of malignant melanoma were correctly referred for specialized oncological treatment. Conclusions: The simulated CVD conditions of protanopia and deuteranopia affected the accuracy of identifying the melanotic nature of the choroidal tumor and the presence of orange pigments. This limitation led to challenges in correctly diagnosing choroidal melanoma and choroidal nevus, resulting in extra referrals for nevus cases. However, participants were safe and could still determine the possible risk of eyes with choroidal melanoma, so most referred melanoma cases to specialized oncologists as needed.

#4

The Prevalence of Congenital Color Vision Abnormality Among Patients Attending a Tertiary Eye Care Center in Southern India.

Cureus2023 Aug

Background and objective Color vision abnormality is a condition where the faculty to identify one or more primary colors is either defective (anomalous) or absent (anopia). Occupations like armed forces, merchant navy, navigation, and police and fire services require normal color vision. There is a scarcity of data in the literature regarding the prevalence of congenital color vision abnormality in patients in South India. In light of this, the present study aimed to find the prevalence of congenital color vision abnormality in patients attending the Outpatient Department (OPD) at a tertiary eye care center in South India. Materials and methods This was a descriptive cross-sectional study conducted at a tertiary eye care center in South India from December 2014 to December 2016. Patients with a best-corrected visual acuity of 20/20, normal direct and consensual pupillary light reflex, normal anterior segment, and undilated fundus examination were included. Color vision was assessed using Ishihara pseudoisochromatic plates, American Optical Hardy-Rand-Rittler (AO HRR), and then the Farnsworth Munsell D15 arrangement test. All the results were tabulated and statistically analyzed. Statistical significance was calculated using the ANOVA test. Results A total of 371 patients were screened for color vision abnormality; 184 (49.59%) patients were males and 187 (50.40%) were females. Out of 371 patients in the study, 363 (98.10%) had normal color vision while eight patients (2.16%) had color vision abnormality. Of the eight patients with color vision abnormalities, six (75%) had abnormal color vision on all three tests and two (25%) had an abnormality on only two tests (Ishihara and AO HRR). Out of 184 males in the study, eight patients (4.34%) had abnormal color vision while none of the 187 females had color vision abnormality; this difference was statistically significant (p=0.03). Conclusions Early diagnosis and providing education and awareness of this condition are necessary as part of guiding young people with regard to their career options and we recommend that all children should undergo color vision screening before entering high school.

#5

The Impact of Color Vision Deficiency on the Capability of Ophthalmologists to Diagnose Benign and Malignant Choroidal Tumors.

Journal of clinical medicine2023 Apr 06

Color vision deficiency (CVD) is an under-reported problem among medical personnel, and its impact is still not well characterized. We aim to assess the impact of CVD among ophthalmologists on the accuracy of diagnosing different benign and malignant choroidal lesions. This is a cross-sectional study conducted on ophthalmologists. We used a web-based survey to collect responses through professional ophthalmology society social media. The survey included a set of five images for normal fundus, choroidal nevus, circumscribed choroidal hemangioma, choroidal metastasis, and choroidal melanoma, wherein each image simulated the three main types of CVD: protanopia, deuteranopia, and tritanopia, in addition to a non-simulated image. Forty-one participants were included, with a mean age of 40 (±9.2) years. They were 28 (68%) men and 13 (32%) women. Participants showed significantly low accuracy for definite diagnosis for circumscribed choroidal hemangioma, nevus, melanoma, and metastasis when the images simulated protanopia and deuteranopia, but not tritanopia. Nevertheless, participants maintained the capability to recognize the nature of the lesions for both simulated and non-simulated images if they were benign or malignant, thereby ensuring immediate referral for specialized care. The exception was with simulated choroidal nevi images, wherein participants incorrectly assigned simulated protanopia and deuteranopia nevi images to malignant lesions. Protanopia and deuteranopia affected the accuracy of diagnosing several choroidal lesions; however, ophthalmologists with those two simulated CVDs were still able to discriminate between benign and malignant tumors.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC55 artigos no totalmostrando 14

2025

Enhancing Ishihara and educational images using machine learning: toward accessible learning for colorblind individuals.

Frontiers in artificial intelligence
2025

Research on the Accessibility of Different Colour Schemes for Web Resources for People with Colour Blindness.

Journal of imaging
2024

Assessing the Impact of Simulated Color Vision Deficiency on Ophthalmologists' Ability to Differentiate between Choroidal Melanoma and Choroidal Nevus.

Journal of clinical medicine
2023

The Prevalence of Congenital Color Vision Abnormality Among Patients Attending a Tertiary Eye Care Center in Southern India.

Cureus
2023

The Impact of Color Vision Deficiency on the Capability of Ophthalmologists to Diagnose Benign and Malignant Choroidal Tumors.

Journal of clinical medicine
2023

Optical Coherence Tomography Angiography Parameters of the Retina in SARS-CoV-2 Recovered Subjects.

Cureus
2021

Simulating a colour-blind ophthalmologist for diagnosing and staging diabetic retinopathy.

Eye (London, England)
2020

Social Perception of Facial Color Appearance for Human Trichromatic Versus Dichromatic Color Vision.

Personality &amp; social psychology bulletin
2019

Study of a retinal layer model to generate a spike waveform for a color deficient and strabismus individual.

Biomedizinische Technik. Biomedical engineering
2018

Delayed S-cone sensitivity losses following the onset of intense yellow backgrounds linked to the lifetime of a photobleaching product?

Journal of vision
2018

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.

American journal of ophthalmology
2019

The prevalence of color vision deficiency in the northeast of Iran.

Journal of current ophthalmology
2017

Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation.

Case reports in ophthalmological medicine
2016

Small field tritanopia in the peripheral retina.

Journal of the Optical Society of America. A, Optics, image science, and vision
Ver todos os 55 no EuropePMC

Associações

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Enhancing Ishihara and educational images using machine learning: toward accessible learning for colorblind individuals.
    Frontiers in artificial intelligence· 2025· PMID 41180825mais citado
  2. Research on the Accessibility of Different Colour Schemes for Web Resources for People with Colour Blindness.
    Journal of imaging· 2025· PMID 40863478mais citado
  3. Assessing the Impact of Simulated Color Vision Deficiency on Ophthalmologists' Ability to Differentiate between Choroidal Melanoma and Choroidal Nevus.
    Journal of clinical medicine· 2024· PMID 38930154mais citado
  4. The Prevalence of Congenital Color Vision Abnormality Among Patients Attending a Tertiary Eye Care Center in Southern India.
    Cureus· 2023· PMID 37736427mais citado
  5. The Impact of Color Vision Deficiency on the Capability of Ophthalmologists to Diagnose Benign and Malignant Choroidal Tumors.
    Journal of clinical medicine· 2023· PMID 37048826mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:88629(Orphanet)
  2. OMIM OMIM:190900(OMIM)
  3. MONDO:0008610(MONDO)
  4. GARD:16768(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q18554140(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Tritanopia
Compêndio · Raras BR

Tritanopia

ORPHA:88629 · MONDO:0008610
Prevalência
1-9 / 100 000
Herança
Autosomal dominant
CID-10
H53.5 · Deficiências da visão cromática
CID-11
Início
Infancy, Neonatal
Prevalência
4.8 (Europe)
MedGen
UMLS
C0155017
EuropePMC
Wikidata
Papers 10a
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