A Distrofia Macular da Córnea (DCM) é uma condição rara e grave que afeta a córnea, a "janela" transparente na frente do olho, especificamente a sua camada central e mais espessa (o estroma). Ela se caracteriza pelo surgimento de manchas opacas e com contornos pouco definidos em ambos os olhos, que se localizam no estroma, tornando-o turvo. Com o tempo, essa condição leva a uma perda grave da visão.
Introdução
O que você precisa saber de cara
A Distrofia Macular da Córnea (DCM) é uma condição rara e grave que afeta a córnea, a "janela" transparente na frente do olho, especificamente a sua camada central e mais espessa (o estroma). Ela se caracteriza pelo surgimento de manchas opacas e com contornos pouco definidos em ambos os olhos, que se localizam no estroma, tornando-o turvo. Com o tempo, essa condição leva a uma perda grave da visão.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan (PubMed:11278593, PubMed:11352640, PubMed:12218059, PubMed:17690104). Cooperates with B4GALT4 galactosyltransferase and B3GNT7 N-acetylglucosaminyltransferase to construct and elongate the sulfated disaccharide unit [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer. Involved i
Golgi apparatus membrane
Macular dystrophy, corneal
An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined.
Variantes genéticas (ClinVar)
106 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 296 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 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)
🇧🇷 Atendimento SUS — Distrofia corneana, tipo macular
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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
Ensaios em destaque
Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados.
Publicações mais relevantes
Targeted AAV6 gene therapy restores corneal endothelial function in three hereditary corneal dystrophies.
The corneal endothelium maintains corneal transparency and vision. Hereditary corneal dystrophies, including macular corneal dystrophy (MCD), Fuchs endothelial corneal dystrophy (FECD), and congenital hereditary endothelial dystrophy (CHED), cause progressive endothelial dysfunction, for which corneal transplantation is currently the main treatment. We evaluate an adeno-associated virus (AAV)-based gene therapy approach in preclinical models of MCD, FECD, and CHED. A refined intracameral injection method enables uniform endothelial transduction without corneal puncture. A single AAV6 administration supports sustained transgene expression in the corneal endothelium for over 18 months without detectable adverse immune responses. In MCD mice, AAV6-Chst5 reduces corneal opacification and restores keratan sulfate levels. In FECD mice, AAV6-Col8a2 prevents corneal opacity in 87.5% of treated eyes. In the CHED model, AAV6-Slc4a11 resolves corneal edema within 7 days. Single-cell RNA sequencing identifies Wnt5a as a downstream factor associated with MCD pathogenesis. These findings support the therapeutic potential of endothelial-targeted gene delivery for corneal endothelial disorders.
Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants.
The study aimed to identify pathogenic variants in the CHST6 gene in a cohort of Egyptian patients diagnosed with macular corneal dystrophy (MCD). Sanger sequencing of the CHST6 gene was performed in 16 individuals affected by MCD from nine unrelated Egyptian families, as well as in their available first-degree relatives. Surgical management data for affected individuals were also collected. Nine different pathogenic or likely pathogenic variants were identified, three of which were novel. All affected individuals carried homozygous mutations, consistent with autosomal recessive inheritance. Parental consanguinity was documented in eight of the nine families. All patients required surgery to restore vision. The mean age at corneal grafting in the first eye was 32.7 ± 8.9 years (range 17-44 years). This study broadens the genetic landscape of MCD by identifying novel CHST6 variants in an Egyptian cohort. The high rate of homozygosity highlights the significant role of consanguinity in shaping the genetic burden of rare diseases in Egypt and the wider Middle East and North Africa region.
Keratan sulfate revisited: UPLC-MS/MS-based quantitative profiling reveals structural heterogeneity and deficiency in ocular pathologies.
Keratan sulfate (KS) is a structurally unique glycosaminoglycan involved in various physiological processes. Dysregulated KS levels and sulfation modifications are associated with the development of various disorders. However, the absence of commercial KS standards and specific hydrolases has hindered accurate quantification and functional studies. To overcome these limitations, we prepared two structurally distinct KS disaccharide standards (Gal-GlcNAc6S and Gal6S-GlcNAc6S) from corneal and cartilaginous tissues, and obtained recombinant KS hydrolase through heterologous expression. Given that the total abundance of various sulfated KS disaccharides reflects overall KS content, a robust UPLC-MS/MS method was further developed for simultaneous quantification of multiple sulfated KS disaccharides. The developed methodology demonstrated exceptional sensitivity, achieving KS quantification from minimal biological inputs (500-1,000 cells or 1 mg tissue). Quantitative analysis revealed significant variation in KS distribution among distinct human ocular cell populations, with stromal cells exhibiting the highest abundance, followed by endothelial and epithelial cells. Notably, total KS expression in corneal specimens from macular corneal dystrophy (MCD) patients was reduced by over 90 % relative to keratoconus (KC). This study establishes a comprehensive platform for KS quantification and offers novel insights into its structure-function relationships within ocular tissues.
Objective assessment of graft clarity and recurrence after penetrating keratoplasty for granular, lattice and macular corneal dystrophy using scheimpflug densitometry.
To evaluate long-term outcomes and recurrence patterns following penetrating keratoplasty (PKP) in granular (GCD), lattice (LCD), and macular corneal dystrophy (MCD), using Scheimpflug-based corneal densitometry (grayscale units-GSU) as an objective tool to assess graft clarity. In this retrospective single-center study, 99 eyes of 59 patients with GCD (n = 38), LCD (n = 30), or MCD (n = 31) were analyzed. A total of 112 PKPs, including 74 excimer laser-assisted PKPs, were evaluated. Clinical examinations included visual acuity, slit-lamp evaluation, and corneal tomography using the Pentacam HR. Clinical recurrence was defined as the appearance of dystrophy-specific changes within the graft. Corneal densitometry was assessed in the anterior, central, and posterior layers and the total corneal thickness at 0-2 mm and 2-6 mm zones. Follow-up ranged from 6 weeks to more than 5 years (5y+) postoperatively. A significant postoperative improvement in BCVA was observed in eyes with GCD and MCD, with sustained visual gains up to 4y and 5y postoperatively, respectively. GCD demonstrated the earliest and highest clinical recurrence rate, with all grafts affected by 5y. LCD showed delayed recurrence from 4y onward, while MCD did not show any recurrence within 5y. Corneal densitometry revealed a progressive increase in GSU in GCD and LCD, particularly in the anterior (GCD:5y / LCD:5y+) and central layers (GCD:4y / LCD:5y+). MCD showed stable GSU values throughout follow-up. Linear regression analysis showed the strongest GSU increase in LCD (slope = 1.65, R²=0.47) and GCD (slope = 0.94, R²=0.14), particularly in the anterior 0-2 mm zone. MCD showed minimal change across all layers and diameters. Scheimpflug-based corneal densitometry enables objective, layer-specific monitoring of graft clarity and recurrence after PKP. Recurrence rates differ significantly among dystrophy subtypes, highlighting the clinical utility of densitometry in tailoring follow-up strategies, particularly in GCD and LCD with high risk of recurrence.
Understanding the role of hydration and hydration gradient in corneal disease.
Maintaining proper corneal hydration is critical for vision. Yet, a quantitative understanding of hydration throughout the corneal stroma is lacking. The purpose of this work is to to better understand the corneal hydration gradient including its origins, diagnostic utility, and role in different diseases. A theoretical model was developed for fluid flow in the cornea, which is driven largely by the stromal swelling pressure. The model employs a novel, first principles equation of state for stromal swelling pressure that captures the strong dependence on hydration that is observed experimentally. The model is then used to evaluate steady-state corneal hydration profiles. The results are used to analyze clinical observations in dry eye disease, Fuchs' dystrophy, and macular corneal dystrophy. The model is also applied to keratoconus where the authors hypothesize previously undetected hydration-related changes may occur secondary to structural and biomechanical changes. The model results show typical changes in water volume fraction across the cornea range from 1 to 5%, and are driven primarily by the osmolarity difference between the aqueous humour and tear film. The model also accurately captures changes in corneal thickness and hydration in several diseases, and illustrates the diagnostic utility of the corneal hydration gradient. The model accurately relates microscopic physical processes in the stroma to observable macroscopic changes in corneal thickness and hydration that is consistent with clinical observation. Use of corneal hydration gradient as a diagnostic could help distinguish factors influencing corneal hydration.
Publicações recentes
Evaluation of the corneal endothelium in clear grafts after deep anterior lamellar keratoplasty using specular microscopy.
Targeted AAV6 gene therapy restores corneal endothelial function in three hereditary corneal dystrophies.
Scanning electron microscopy of the descemet membrane in macular corneal dystrophy.
Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants.
Anterior Segment Optical Coherence Tomography in the Diagnosis of Corneal Stromal Dystrophies in Romania.
📚 EuropePMC159 artigos no totalmostrando 76
Targeted AAV6 gene therapy restores corneal endothelial function in three hereditary corneal dystrophies.
Cell reports. MedicineScanning electron microscopy of the descemet membrane in macular corneal dystrophy.
European journal of ophthalmologyMolecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants.
Ophthalmic geneticsAnterior Segment Optical Coherence Tomography in the Diagnosis of Corneal Stromal Dystrophies in Romania.
MaedicaKeratan sulfate revisited: UPLC-MS/MS-based quantitative profiling reveals structural heterogeneity and deficiency in ocular pathologies.
Carbohydrate polymersObjective assessment of graft clarity and recurrence after penetrating keratoplasty for granular, lattice and macular corneal dystrophy using scheimpflug densitometry.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieDeep Learning Model for Extensive Diagnosis of Corneal Deposits.
CorneaUnderstanding the role of hydration and hydration gradient in corneal disease.
Experimental eye researchSimultaneous Type 1 and Type 2 Big-Bubble Deep Anterior Lamellar Keratoplasty (DALK) for Macular Corneal Dystrophy.
American journal of ophthalmologyVisual and Refractive Outcomes of Different Bubble Types in Deep Anterior Lamellar Keratoplasty for Macular Corneal Dystrophy.
Journal of current ophthalmologyConcordance Between Clinical and Pathological Diagnosis of Stromal Corneal Dystrophies in a Large Case Series.
CorneaCorrigendum to "Penetrating keratoplasty versus deep anteriror lamellar keratoplasty for macular corneal dystrophy: A meta-analysis" [Survey Ophthalomol., vol. 70 (2025) P480-488/ PMID: 39709033].
Survey of ophthalmologyEfficacy and Safety of Penetrating Keratoplasty and Deep Anterior Lamellar Keratoplasty in Corneal Macular Dystrophy: A Systematic Review and Meta-Analysis.
Journal of ophthalmologyPeripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization.
American journal of ophthalmologyGenetic implications of CHST6 gene mutations and their corneal microstructural changes in macular corneal dystrophy patients.
Molecular visionIn Vivo Confocal Microscopy Findings in Corneal Stromal Dystrophies.
Diagnostics (Basel, Switzerland)Penetrating keratoplasty versus deep anteriror lamellar keratoplasty for macular corneal dystrophy: A meta-analysis.
Survey of ophthalmologyLoss of carbohydrate sulfotransferase 6 function leads to macular corneal dystrophy phenotypes and skeletal defects in zebrafish.
The FEBS journalTrehalose extricates impaired mitochondrial and autophagy dysregulation in patient iPSC-derived macular corneal dystrophy disease model.
Stem cell research & therapyLong-term prognosis of penetrating keratoplasty in a patient with limited form of Scleroderma- a case report.
European journal of ophthalmologyComparison of Scheimpflug Imaging (Pentacam HR) and Swept-Source Optical Coherence Tomography (CASIA2) in Eyes With Macular Corneal Dystrophy.
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BMJ case reportsMacular Corneal Dystrophy - Molecular Genetics as the Key in Treatment-Refractory Keratopathy.
Klinische Monatsblatter fur AugenheilkundeDeep anterior lamellar keratoplasty and penetrating keratoplasty in macular corneal dystrophy: comparison of visual and topographic outcomes and complications.
Arquivos brasileiros de oftalmologiaVisual outcomes and recurrence rate of macular corneal dystrophy following phototherapeutic keratectomy in Saudi Arabia.
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Experimental eye researchMacular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty.
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BMC ophthalmologyNovel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.
Annals of translational medicineMacular Corneal Dystrophy: An Updated Review.
Current eye researchImpairment of the autophagy-lysosomal pathway and activation of pyroptosis in macular corneal dystrophy.
Cell death discoveryRecurrence of macular corneal dystrophy on the graft 50 years after penetrating keratoplasty.
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Indian journal of ophthalmology[Corneal dystrophies in optical coherence tomography].
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Histology and histopathologyAssociações
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Comunidades
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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.
- Targeted AAV6 gene therapy restores corneal endothelial function in three hereditary corneal dystrophies.
- Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants.
- Keratan sulfate revisited: UPLC-MS/MS-based quantitative profiling reveals structural heterogeneity and deficiency in ocular pathologies.
- Objective assessment of graft clarity and recurrence after penetrating keratoplasty for granular, lattice and macular corneal dystrophy using scheimpflug densitometry.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie· 2026· PMID 41396443mais citado
- Understanding the role of hydration and hydration gradient in corneal disease.
- Evaluation of the corneal endothelium in clear grafts after deep anterior lamellar keratoplasty using specular microscopy.
- Scanning electron microscopy of the descemet membrane in macular corneal dystrophy.
- Anterior Segment Optical Coherence Tomography in the Diagnosis of Corneal Stromal Dystrophies in Romania.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98969(Orphanet)
- OMIM OMIM:217800(OMIM)
- MONDO:0009020(MONDO)
- GARD:6953(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q4385926(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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