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Introdução
O que você precisa saber de cara
A falta ou a dificuldade em enxergar as cores.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 50 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
10 genes identificados com associação a esta condição.
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)
Cell membranePhotoreceptor inner segmentCell projection, cilium, photoreceptor outer segmentCytoplasm, perinuclear region
Tritan color blindness
A disorder of vision characterized by a selective deficiency of blue spectral sensitivity.
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 facilitate ciliary trafficking by modulating ciliary intracellular localization of RAB8A (PubMed:20631154). GEF activity towards RAB37 maintains autophagic homeostasis and retinal function (By similarity). Involved in photoreceptor integrity (By similarity). May control cilia formation by regulating ac
Cytoplasm, cytoskeleton, flagellum axonemeGolgi apparatusCell projection, ciliumCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, cilium basal bodyCytoplasm, cytoskeleton, cilium axoneme
Retinitis pigmentosa 3
An X-linked retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex.
As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP
Cell membrane
Cone dystrophy 4
An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
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
Achromatopsia 6
An autosomal recessive form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by colorblindness, low visual acuity, photophobia and nystagmus. ACHM6 patients have incomplete loss of color vision, and non-progressive reduced visual acuity.
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 impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase
Cell projection, cilium, photoreceptor outer segmentPhotoreceptor inner segment
Achromatopsia 4
An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.
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, PubMed:11779464). Endoplasmic reticulum stress promotes processing of this form, releasing the transcription factor form that translocates into the nucleus, where it activates transcription of genes involved in the unfolded protein response (UPR) (PubMed:10564271, PubMed:11158310, PubMed:11779464)
Endoplasmic reticulum membraneGolgi apparatus membraneNucleus
Achromatopsia 7
A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.
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 dark, cGMP levels are high and keep the channel open enabling a steady inward current carried by Na(+) and Ca(2+) ions that leads to membrane depolarization and neurotransmitter release from synaptic terminals. Upon photon absorption cGMP levels decline leading to channel closure and membrane hyper
Cell membrane
Achromatopsia 2
An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.
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 dark, cGMP levels are high and keep the channel open enabling a steady inward current carried by Na(+) and Ca(2+) ions that leads to membrane depolarization and neurotransmitter release from synaptic terminals. Upon photon absorption cGMP levels decline leading to channel closure and membrane hyper
Cell membrane
Stargardt disease 1
An autosomal recessive form of Stargardt disease, a retinal degenerative disease characterized by macular dystrophy, progressive bilateral atrophy of the foveal retinal pigment epithelium, and accumulation of fluorescent flecks around the macula and/or in the central and near-peripheral areas of the retina. STGD1 patients typically lose central vision in their first or second decade of life.
Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal
Membrane
Colorblindness, partial, protan series
An X-linked color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia.
Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal
Cell membrane
Colorblindness, partial, deutan series
An X-linked color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia.
Variantes genéticas (ClinVar)
1,215 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
13 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Publicações mais relevantes
RGR-mediated photopic visual cycle and oxidative stress: potential mechanisms for cone vision impairment and retinal degeneration in retinitis pigmentosa linked to D1080N-IRBP.
Interphotoreceptor retinoid-binding protein (IRBP), an extracellular glycoprotein, supports cone-mediated vision through unclear molecular mechanisms. Over 30 different mutations in the IRBP gene have been found in patients with retinitis pigmentosa, childhood-onset retinal dystrophy with high myopia, and cone-rod dystrophy, yet their pathogenicity and underlying pathogenic mechanisms have not been studied in animal models. Here, we found that extracellular IRBP significantly increased the quantities of the extracellular, but not intracellular, 11-cis-retinol and 11-cis-retinal synthesized by retinal G protein-coupled receptor (RGR) in coordination with retinol dehydrogenases and green light stimuli. Retinoid trafficking in the retina and recovery of S-cone and rod maximum photoresponses were substantially delayed in male and female mice of a new retinitis pigmentosa model linked to the human D1080N-IRBP. The mutant IRBP was unstable, not secreted, and retained in the endoplasmic reticulum of photoreceptors due to formation of insoluble high molecular complexes via disulfide bonds. Young mutant mice exhibited profound reduction in photoresponses to ultraviolet stimuli without a significant S-opsin reduction and S-cone structural degeneration. In contrast, M-cones exhibited early and progressive degeneration, accompanied by mislocalization of M-opsin to the soma and synaptic region of M-cones. Rods also underwent early and progressive degeneration. Oxidative and inflammatory stresses as well as pro-apoptotic proteins such as activated caspase-3, BAX, and apoptosis-inducing factor were markedly increased in the mutant mouse retina. These findings identify both a role of IRBP in the RGR-mediated photopic visual cycle supporting daytime color vision and the molecular mechanism by which D1080N-IRBP causes vision impairment and photoreceptor degeneration.Significance Statement IRBP, an interphotoreceptor matrix protein, supports cone-mediated color vision via unclear mechanism. Mutations in IRBP are associated with blinding diseases with poorly understood pathogenic mechanism. Here, we found that IRBP plays an important role in the RGR-mediated photopic visual cycle essential cone-mediated vision. Consistent with this, recovery of S-cone photoresponse was significantly delayed in a newly developed mouse model carrying a human disease-causing IRBP mutation. This mutation abolished IRBP secretion and led to progressive degeneration of rods and M-cones, accompanied by elevation of oxidative stress, inflammatory cytokines, and proapoptotic proteins in the retina. These results identify both a functional mechanism of IRBP in promoting cone-mediated vision and a pathogenic mechanism by which IRBP mutations cause vision loss and photoreceptor degeneration.
Color Vision Deficits and Binocular Vision Dysfunction in Parkinson's Disease.
Background/Objectives: Visual dysfunction is a common non-motor symptom in Parkinson's Disease (PD), as evidenced by deficits in color vision (CV) and binocular vision (BV). Computerized CV tests, such as the Cambridge Color Test (CCT), are underutilized in this patient population despite the known limitations of common CV tests. Methods: In total, 19 PD and 12 control participants underwent a comprehensive eye exam, including ocular motility testing and the CCT, utilizing thresholds obtained along 12 contrast vectors to fit a discrimination ellipse. Findings were compared across groups, and the association with disease severity was analyzed. Results: PD participants showed increases in ellipse area (p = 0.012) and short-axis length (p = 0.009). PD participants demonstrated convergence insufficiency type exotropia (p < 0.001) and impaired stereopsis (p = 0.006). No significant correlation with UPDRS scores was seen for either BV or CV. Conclusions: PD participants exhibited binocular vision dysfunction with selective changes in color vision. CV changes are more variable in PD, likely due to mixed parvocellular and cortical dysfunction. Convergence insufficiency type exotropia is more common in PD, likely due to combined cortical and subcortical neurodegeneration. Both BV and CV changes occur independently of motor severity, emphasizing the need for routine visual testing regardless of symptom progression.
Case Report: Neuroretinitis versus hypertensive retinopathy secondary to Alport syndrome.
Alport syndrome (AS) is an inherited disease caused by the absence of type IV collagen from glomerular, cochlear, and ocular basement membranes. Ocular manifestations of AS include corneal opacity, peripheral and central fleck retinopathy, and temporal thinning on OCT. These findings in AS usually do not cause any vision loss. We report a case of bilateral vision loss with optic disc edema, macular edema, and macular star figure in AS. A 27-year-old woman presented with progressive, painless bilateral blurry vision over 2 weeks. She had genetically confirmed X-linked COL4A5 Alport syndrome and uncontrolled hypertension despite four antihypertensive medications. Visual acuity was 20/50 OU. Ishihara color testing was 6/14 OD and 2/14 OS. Fundoscopy showed moderate optic disc edema, a complete macular star, and tortuous vessel OU. Humphrey visual fields revealed severe constriction (mean deviation was -17.65 dB OS and -21.98 dB OD). Blood pressure was 163/93 mm Hg. OCT showed a peripapillary RNFL of 245 μm OD and 204 μm OS. MRI indicated an enlarged, partially empty sella and bilateral patulous optic nerve sheath. Lumbar puncture opening pressure was 13 cm H₂O with mildly elevated CSF protein and no pleocytosis. Infectious and inflammatory neuroretinitis workup was negative. She was started on acetazolamide 250 mg twice daily and transitioned to hemodialysis. After 9 months, vision improved to 20/30 OU, color plates to 10/14 OD and 8/14 OS, and OCT RNFL to 139 μm OD and 128 μm OS. Visual fields improved (mean deviation -3.13 dB OS, -3.8 dB OD). We consider the possibility of hypertensive retinopathy or idiopathic neuroretinitis in this patient with Alport syndrome. Given the disproportionate degree of macular edema and prominent macular star, in the absence of common manifestations of hypertensive retinopathy such as retinal hemorrhages or hard exudates, we suspect a possible superimposed neuroretinitis-like exudative mechanism driven by the absence of type IV collagen, providing structural support in Alport syndrome patients. This complex symptom presentation, to our knowledge, has never been described in the context of Alport syndrome. Further research is needed to better understand the relationship between Alport-related renal disease, hypertensive retinopathy, and neuroretinitis.
Color modulation of motion aftereffect on optomotor response in zebrafish larvae.
Visual aftereffects are perceptual distortions that occur after prolonged exposure to a visual stimulus. We examined zebrafish larval behaviors in response to unidirectional or bidirectional grating movement in red, green, and blue during adaptation and test phases. At the end of the test, larvae were collected to assess cone photoreceptor expression Unidirectional motion adaptation induced robust, color-dependent MAEs, with the strongest effect under red stimuli, followed by green and blue. In contrast, bidirectional adaptation abolished MAEs across all colors. General locomotor activity decreased during test phases, with unidirectional adaptation maintaining higher activity than bidirectional, particularly under red stimuli. Importantly, qRT-PCR and immunostaining revealed no changes in cone photoreceptor markers, indicating that the observed behavioral modulation occurred independently of photoreceptor expression. Together, these findings demonstrate that color selectively modulates motion perception in zebrafish larvae, with red stimuli producing the strongest motion adaptation effects, while general locomotor activity and photoreceptor expression remain largely unaffected. These behavioral patterns may arise from higher-order neural processing rather than from changes at the level of photoreceptor composition.
A Novel Multimodal Implementation of a Foundation Artificial Intelligence Model Using Optic Nerve Head Fundus Photographs and OCT Imaging for Glaucoma Detection.
To compare the performance of unimodal and multimodal implementation of the self-supervised learning model RETFound in detecting glaucoma using color fundus photographs (CFPs) and OCT images, and to assess its generalizability across different ethnicities, age groups, and disease severities. Evaluation of a diagnostic technology. Fourteen thousand five hundred ten CFPs and 32 640 OCTs from 1948 eyes of 1098 participants (60.8% glaucoma, 39.2% healthy) from the Diagnostic Innovations in Glaucoma Study and the African Descent and Glaucoma Evaluation Study were included. Glaucoma was defined as photograph-based glaucomatous optic neuropathy with or without repeatable glaucoma visual field damage. A multimodal RETFound model was developed using paired CFPs and OCT images. The model was compared to unimodal RETFound models using solely CFP or OCT images. Performance was also stratified by race (Black vs. White), age (<60 vs. ≥60 years), and disease severity (mild vs. moderate-to-severe glaucoma). Diagnostic accuracy of unimodal and multimodal RETFound models using CFP and OCT for detecting glaucoma was assessed using the area under the receiver operating characteristic curve (AUC), precision, and recall. The multimodal model for glaucoma detection achieved an AUC of 0.94 (95% confidence interval: 0.91-0.97), significantly outperforming the CFP unimodal model (AUC 0.86 [95% confidence interval: 0.81-0.89], P < 0.001) but not the OCT unimodal model (AUC 0.93 [95% confidence interval: 0.90-0.96], P = 0.47). Precision and recall were higher (0.96 and 0.87, respectively) for the multimodal model compared with the CFP model (0.92 and 0.69) across all subgroups. No significant differences based on race or age were found in either unimodal or multimodal glaucoma detection models. All models exhibited better performance in detecting moderate-to-severe glaucoma than mild glaucoma, with significant differences in the unimodal CFP (P = 0.002) and OCT (P = 0.005) models. The multimodal RETFound model demonstrated improved diagnostic ability compared with the CFP unimodal model but did not significantly outperform the OCT unimodal model in glaucoma detection. As clinical implementation of a unimodal artificial intelligence (AI) model is easier than a multimodal counterpart, our results suggest unimodal OCT AI models may be sufficient for detecting glaucoma. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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Advances in experimental medicine and biologyAssessment of a novel color vision optomotor response assay in zebrafish larvae with red cone ablation.
Lab animalRapid progression of maculopathy after Pentosan Polysulfate Sodium cessation.
Retinal cases & brief reportsExpanding the genetic spectrum of achromatopsia: novel CNGA3 and CNGB3 variants.
International ophthalmologyResearch Progress in Artificial Intelligence for Central Serous Chorioretinopathy: A Systematic Review.
Ophthalmology and therapyRepeatability of a novel chromatic perimeter in a cohort of people with and without glucose dysfunction.
Optometry and vision science : official publication of the American Academy of OptometryGuidelines for glaucoma imaging classification, annotation, and quality control for artificial intelligence applications.
International journal of ophthalmologyAtypical bilateral papilledema during the puerperium: a case report.
Frontiers in medicineDiagnostic utility of an automated fundus-OCT camera in the emergency department: a retrospective review.
BMC ophthalmologyChorioretinal folds: A review and update of new and old etiologies.
Survey of ophthalmologyGenotype Prediction from Retinal Fundus Images Using Deep Learning in Eyes with Age-Related Macular Degeneration.
Ophthalmology scienceBilateral Acute Occlusive Retinal Vasculitis in Pediatric Patients: A Report of Two Cases.
Ocular immunology and inflammationCross-Modal Data Fusion via Vision-Language Model for Crop Disease Recognition.
Sensors (Basel, Switzerland)[Focus on MS - visual loss as a cardinal symptom of multiple sclerosis].
Therapeutische Umschau. Revue therapeutiqueA 54-year-old male with posterior ischemic optic neuropathy misdiagnosed as ophthalmic artery occlusion.
BMC ophthalmologyUnraveling the genetic diversity and adaptive traits of laboratory pig breeds within the perspective of whole - genome resequencing.
BMC genomicsA deep learning model for diagnosis of inherited retinal diseases.
Scientific reportsInterpretable longitudinal glaucoma visual field estimation deep learning system from fundus images and clinical narratives.
NPJ digital medicineStructural and causal links between retinal vascular geometry and neural layer thickness.
Microvascular researchEvidence and Consensus Based Imaging Guidelines in Multiple Evanescent White Dot Syndrome Multimodal imaging in Uveitis (MUV) Taskforce Report 6.
American journal of ophthalmologyClinical Characteristics and Natural History of Branch Retinal Artery Ischemia.
Ophthalmology scienceRetinal Imaging as a Window into Cardiovascular Health: Towards Harnessing Retinal Analytics for Precision Cardiovascular Medicine.
Journal of cardiovascular development and diseaseGenetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort.
Acta ophthalmologicaEvidence and Consensus-based Imaging Guidelines in Birdshot Chorioretinopathy: Multimodal Imaging in Uveitis (MUV) Taskforce Report 8.
American journal of ophthalmologyCase Report: Development of severe inflammatory orbitopathy after immune checkpoint inhibitor initiation.
Frontiers in ophthalmologyNovel compound heterozygous CNGA3 mutation associated with retinal cone dystrophy.
Experimental and therapeutic medicineThe Quality of Life Impact of Acute Uveitis: A Prospective Study.
Ocular immunology and inflammationSmartphone-Powered Automated Image Recognition Tool for Multianalyte Rapid Tests: Application to Infectious Diseases.
Analytical chemistryBlood-brain barrier permeability in relation to disease severity and timing of multiple sclerosis diagnosis in optic neuritis.
Multiple sclerosis journal - experimental, translational and clinicalThe Role of the Ophthalmologist in the Prompt Diagnosis of Syphilis: Unmasking the Great Mimicker.
Ocular immunology and inflammationFemale Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series.
Case reports in ophthalmologyDual-Phase Severity Grading of Strawberry Angular Leaf Spot Based on Improved YOLOv11 and OpenCV.
Plants (Basel, Switzerland)Review of Four Refined Clinical Entities in Hereditary Retinal Disorders from Japan.
International journal of molecular sciencesColor memory as a diagnostic test for mild cognitive impairment and early stage of Alzheimer's disease.
Frontiers in neurologyDepression and Associated Factors Among Diabetic Patients Undergoing Diabetic Retinopathy Assessments at a Tertiary Care Center: A Cross-Sectional Study.
Clinical ophthalmology (Auckland, N.Z.)Prevalence of Myopia and Axial Length Distribution in China: The Wuhu Children and Adolescents Eye Study.
Investigative ophthalmology & visual scienceA case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual.
American journal of ophthalmology case reportsAn Analysis of Scotopic Microperimetry in Healthy Adults.
Translational vision science & technologyEvidence and Consensus-Based Imaging Guidelines in Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE) - Multimodal imaging in Uveitis (MUV) Taskforce Report 7.
American journal of ophthalmologyEvidence and Consensus-Based Imaging Guidelines in Serpiginous Choroiditis-Multimodal Imaging in Uveitis (MUV) Task Force Report 4.
American journal of ophthalmologyClinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.
Investigative ophthalmology & visual scienceDiagnosis and classification of neuromuscular disorders using Bi-LSTM optimized with grey Wolf optimizer for EMG signals.
Scientific reportsPerformance of Artificial Intelligence-Based Models for Epiretinal Membrane Diagnosis: A Systematic Review and Meta-Analysis.
American journal of ophthalmologyStructure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.
Orphanet journal of rare diseasesState of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics.
Journal of clinical medicineA Window to the Brain-The Enduring Impact of Vision Research.
Brain sciencesTo Quantitatively Assess and Compare Choroidal and RNFL Thickness in Patients with Active and Inactive Thyroid Eye Disease.
Indian journal of endocrinology and metabolismA novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.
Orphanet journal of rare diseasesKeratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report.
Ophthalmic genetics[Posterior cortical atrophy presenting with agraphia for kanji and statokinetic dissociation (Riddoch phenomenon): a case report].
Rinsho shinkeigaku = Clinical neurologyVISUAL OUTCOMES AND CLINICAL FEATURES OF EXTENSIVE MACULAR ATROPHY WITH PSEUDODRUSEN.
Retina (Philadelphia, Pa.)The society for equity neuroscience (SEQUINS): Seeking to eliminate global brain health inequities and disparities through research.
Equity neuroscienceObject knowledge representation in the human visual cortex requires a connection with the language system.
PLoS biologySecond-derivative UV spectral analysis of aqueous humor for eye disease diagnosis and assessing the effects of food additives on ocular health.
Scientific reportsPigmentation Artifact of "True-Color" Fundus Photography in Circumscribed Choroidal Hemangiomas.
Ocular oncology and pathologyA novel attention based vision transformer optimized with hybrid optimization algorithm for turmeric leaf disease detection.
Scientific reportsApple varieties, diseases, and distinguishing between fresh and rotten through deep learning approaches.
PloS oneSpectrum of Ophthalmic Manifestations in Patients With Transfusion-Dependent Thalassemia.
CureusClinical Applications of the Cone Contrast Test in Ophthalmology and Neurology.
Journal of clinical medicineThe march to harmonized imaging standards for retinal imaging.
Progress in retinal and eye researchCocreating the Visualization of Digital Mobility Outcomes: Delphi-Type Process With Patients.
JMIR formative researchClinical Stage of Retinoblastoma Based on Presenting Signs of 4578 Patients from 121 Countries.
OphthalmologyLong-Term Consumption of Ultraprocessed Foods and Prodromal Features of Parkinson Disease.
Neurology[MEP-46] A Case of Cyclosporine-Associated Early Hyperpigmentation.
Turk gogus kalp damar cerrahisi dergisiNew Simple and Fast Digital Screening Method for Minimal Hepatic Encephalopathy in Cirrhotic Patients.
United European gastroenterology journalStatins and Thyroid Eye Disease: A Propensity Score-Matched Retrospective Cohort Analysis.
CureusComprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.
The Journal of pathologyLow-Rank Fine-Tuning Meets Cross-modal Analysis: A Robust Framework for Age-Related Macular Degeneration Categorization.
Journal of imaging informatics in medicineOphthalmic manifestations and optic nerve functions in COVID-19: a prospective case series in Pakistani population.
Pakistan journal of medical sciencesEvidence and Consensus-Based Imaging Guidelines in Multifocal Choroiditis With Panuveitis and Punctate Inner Choroiditis-Multimodal Imaging in Uveitis (MUV) Taskforce Report 5.
American journal of ophthalmologyAutomated Foveal Avascular Zone Segmentation in Optical Coherence Tomography Angiography Across Multiple Eye Diseases Using Knowledge Distillation.
Bioengineering (Basel, Switzerland)Methanol poisoning with bilateral basal ganglia necrosis and hemorrhage without visual impairment: A case report.
The American journal of emergency medicineSurvey of Australian primary eyecare management of choroidal nevus patients.
Optometry and vision science : official publication of the American Academy of OptometryFluorescence Lifetime Imaging Ophthalmoscopy, Vision, and Chorioretinal Asymmetries in Aging and Age-Related Macular Degeneration: ALSTAR2.
Investigative ophthalmology & visual scienceKeeping an eye on Parkinson's disease: color vision and outer retinal thickness as simple and non-invasive biomarkers.
Journal of neurologyVITELLIFORM LESIONS ASSOCIATED WITH ANGIOID STREAKS: Long-Term Follow-Up of a Rarely Described Phenotype.
Retina (Philadelphia, Pa.)Assessment and Outcomes of Pediatric Optic Neuritis in a Tertiary Children's Hospital in the United Kingdom: A 10-Year Retrospective Review.
Journal of child neurologyBiotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review.
Neuro-ophthalmology (Aeolus Press)Disorders of Higher-order Visual Function.
Continuum (Minneapolis, Minn.)Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.
Investigative ophthalmology & visual scienceVisual quantitative point-of-care immunoassay based on signal transduction amplification and hue-recognition analysis.
Biosensors & bioelectronicsThe Exon-Based Transcriptomic Analysis of Parkinson's Disease.
BiomoleculesUse of artificial intelligence with retinal imaging in screening for diabetes-associated complications: systematic review.
EClinicalMedicine[Analysis of 5-year efficacy of adjuvant external drainage of subretinal fluid therapy in Coats disease with severe exudative retinal detachment].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyPredictors of visual outcome in optic neuropathy of sarcoidosis.
Journal of neuroimmunologyDifferentiation versus dysfunction: thyroid hormone, deiodinases and retinal photoreceptors.
European thyroid journalCongenital Stationary Night Blindness (CSNB)-Case Reports and Review of Current Knowledge.
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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.
- RGR-mediated photopic visual cycle and oxidative stress: potential mechanisms for cone vision impairment and retinal degeneration in retinitis pigmentosa linked to D1080N-IRBP.The Journal of neuroscience : the official journal of the Society for Neuroscience· 2026· PMID 41775632mais citado
- Color Vision Deficits and Binocular Vision Dysfunction in Parkinson's Disease.
- Case Report: Neuroretinitis versus hypertensive retinopathy secondary to Alport syndrome.
- Color modulation of motion aftereffect on optomotor response in zebrafish larvae.
- A Novel Multimodal Implementation of a Foundation Artificial Intelligence Model Using Optic Nerve Head Fundus Photographs and OCT Imaging for Glaucoma Detection.
- COLOR VISION UNDER BLUR: IMPLICATIONS FOR PERCEPTION AND EVOLUTION.
- Impact of Cataract on Color Vision and Contrast Sensitivity: A Clinical Review.
- [The Eye and Optic Nerve in Neurological Practice].
- The Result Is Clear: Color Trap Preferences of Adult Necrophagous Flies.
- Growth, development, and health status of primary school students in Binzhou city: an analysis based on health examination data for 6-12-Year-olds.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98658(Orphanet)
- MONDO:0001703(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q133696(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.
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