A distrofia corneana polimorfa posterior (CDPP) é um subtipo leve e raro de distrofia corneana posterior, caracterizada por pequenos agregados de vesículas aparentes delimitadas por uma névoa cinzenta ao nível da membrana de Descemet, geralmente sem efeito na visão.
Introdução
O que você precisa saber de cara
A distrofia corneana polimorfa posterior (CDPP) é um subtipo leve e raro de distrofia corneana posterior, caracterizada por pequenos agregados de vesículas aparentes delimitadas por uma névoa cinzenta ao nível da membrana de Descemet, geralmente sem efeito na 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
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 30 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
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster (PubMed:10903837). May regulate the activity of the LCR and the cone opsin genes at earlier stages of development (PubMed:10903837). Dispensable in early retinal development (By similarity)
Nucleus
Keratoconus 1
Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission.
Transcription factor playing an important role in primary neurulation and in epithelial development (PubMed:25152456, PubMed:29309642). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (By similarity). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure
NucleusMembrane
Deafness, autosomal dominant, 28
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade.
Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also a component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity)
Secreted, extracellular space, extracellular matrix, basement membrane
Corneal dystrophy, Fuchs endothelial, 1
A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Repr
Nucleus
Corneal dystrophy, posterior polymorphous, 3
A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic.
Zinc-finger transcription repressor factor (PubMed:19700410). Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer (By similarity). Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1 (PubMed:19700410). Important for the correct development of primo
Nucleus
Corneal dystrophy, posterior polymorphous, 1
A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family.
Variantes genéticas (ClinVar)
91 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 87 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
9 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, polimorfa posterior
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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
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
11 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Generation of a Novel Col8a2P2A-CreERT2 Mouse Line Enables Targeted Genetic Manipulation of Corneal Endothelial Cells and Modeling of Endothelial Decompensation.
The corneal endothelium is a monolayer of specialized cells that maintains stromal deturgescence and transparency, functions essential for vision. Despite its clinical importance, the developmental origins and homeostatic programs of the endothelium remain poorly understood, in part due to the lack of a lineage-specific genetic driver. To overcome this limitation, we generated a Col8a2P2A-CreERT2 knock-in mouse line that enables selective genetic manipulations of corneal endothelial cells. Cre activity was validated with reporter alleles and functional importance was assessed by conditional ablation of Col8a2+ cells in adulthood, with phenotypic outcomes evaluated by histology, immunofluorescence, and in vivo imaging. We found that Col8a2P2A-CreERT2 drives robust and specific recombination in corneal endothelial cells. Functional assays demonstrated that Col8a2+ cells contribute continuously to Descemet's membrane synthesis and are essential for maintaining endothelial integrity. Ablation disrupted endothelial density and barrier function, resulting in phenotypes resembling human endothelial dystrophies, including features of Fuchs' endothelial corneal dystrophy and posterior polymorphous corneal dystrophy. These findings identify Col8a2+ cells as indispensable regulators of endothelial development, homeostasis, and disease pathogenesis. The Col8a2P2A-CreERT2 line provides the first corneal endothelium-specific genetic driver, establishing a platform for mechanistic investigation and therapeutic discovery in endothelial disorders.
Outcomes of descemet's membrane endothelial keratoplasty in patients under thirty years old.
BackgroundEvidence for Descemet's membrane endothelial keratoplasty (DMEK) in patients under 30 years old remains limited, although understanding outcomes in this demographic is important given the requirement for decades of graft function and concerns about long-term DMEK survival.MethodsWe conducted a retrospective case series at Moorfields Eye Hospital of consecutive patients under 30 years undergoing DMEK between 2015 and 2022. Primary outcome was change in best-corrected visual acuity (BCVA). Secondary outcomes included change in central corneal thickness (CCT), graft failure rates, and post-operative complications.Results18 eyes of 17 patients underwent DMEK surgery (mean age 22.7 ± 5.1) over a mean follow-up of 1072.1 ± 869.8 days. Mean BCVA improvement was 0.36 logMAR from pre-operative to final follow-up (p > 0.05), though significant improvements occurred at 1-month and 12-month intervals (p < 0.001 and p < 0.01, respectively). CCT improved significantly from baseline by 111.3 μm (95% CI, 64.3-158.2 μm, p < 0.0001). At final follow-up, 22.2% of eyes achieved BCVA ≤ 0.3 logMAR (n = 4). No patient achieved BCVA ≤ 0.1 logMAR. Rebubbling was performed 9 times (50%) in 8 eyes and was similar between both SF6 and air (p > 0.05). Post-operative complications occurred in 11.1% (n = 2) with no rejection episodes, although secondary graft failure occurred in 22.2% (n = 4), all within 12 months.ConclusionsDMEK effectively improves visual and anatomical outcomes in patients under 30, though with higher complication rates than older populations. The complex pathology and longer follow-up requirements in this demographic necessitate careful patient selection and realistic expectations. Larger prospective studies are needed to establish definitive guidelines for this population.
[Endothelial dystrophies and degenerations of the cornea].
The corneal endothelium is the innermost layer of the human cornea and it acts as a barrier between the aqueous humor and the corneal stroma, thus maintaining the hydration of the cornea. Both congenital dystrophies including (1) Fuchs' endothelial corneal dystrophy (FECD), (2) posterior polymorphous corneal dystrophy (PPCD), (3) congenital hereditary endothelial dystrophy (CHED), (4) X-linked endothelial corneal dystrophy (XECD) and age-related degenerations like (5) pseudoexfoliation-related (PEX) keratopathy, (6) pseudophakic bullous keratopathy (PBK), (7) iridocorneal endothelial (ICE) syndromes and endothelial graft rejection after keratoplasty can impair this function and are described in this review article.
Pentacam-based corneal densitometry in posterior polymorphous corneal dystrophy.
Polymorphous corneal dystrophy subtype 3 and keratoconus aggravation after corneal refractive surgery in a three-generation family carrying both ZEB1 and ZNF469 pathogenic variant.
This study reports a three-generation Chinese family with polymorphous corneal dystrophy subtype 3 (PPCD3) and keratoconus (KC) aggravation induced by corneal refractive surgery, specifically small incision lenticule extraction (SMILE), in the context of genetic variations. The history of illnesses and blood samples of all family members were collected. One hundred healthy individuals served as normal controls. We conducted whole exome sequencing on genomic DNA and sanger sequencing to verify the variants between all controls and family members. Three family members were previously diagnosed with subclinical keratoconus (III1 and III2 preoperatively, and II2). Both the proband (III1) and her younger brother (III2) underwent SMILE to correct refractive errors. One year later, visual acuity of III1 decreased significantly with KC aggravation and corneal opacification. The KC of III2 progressed significantly 6 months after surgery. Both were subsequently diagnosed with PPCD3. We detected both Zinc finger E-box-binding homeobox 1 (ZEB1) gene and zinc finger protein 469 (ZNF469) gene pathogenic variant in the proband and another two patients in this family, including a heterozygous missense variation c.13C>G (p.P5A, rs753301298) in the ZEB1 gene, and a heterozygous non-frameshift variant c. 3093_3104del (p.D1035_K1038del) in the ZNF469 gene. The variants including c.13C>G in ZEB1 and c.3093_3104del in ZNF469 were speculated to be pathogenic or a variant of uncertain significance by online prediction software. This study demonstrated the importance of a thorough ocular examination, especially the cornea, and a gene screening before SMILE.
Publicações recentes
Generation of a Novel Col8a2(P2A-CreERT2) Mouse Line Enables Targeted Genetic Manipulation of Corneal Endothelial Cells and Modeling of Endothelial Decompensation.
Outcomes of descemet's membrane endothelial keratoplasty in patients under thirty years old.
[Endothelial dystrophies and degenerations of the cornea].
Polymorphous corneal dystrophy subtype 3 and keratoconus aggravation after corneal refractive surgery in a three-generation family carrying both ZEB1 and ZNF469 pathogenic variant.
Pentacam-based corneal densitometry in posterior polymorphous corneal dystrophy.
📚 EuropePMC94 artigos no totalmostrando 74
Generation of a Novel Col8a2P2A-CreERT2 Mouse Line Enables Targeted Genetic Manipulation of Corneal Endothelial Cells and Modeling of Endothelial Decompensation.
Genesis (New York, N.Y. : 2000)Outcomes of descemet's membrane endothelial keratoplasty in patients under thirty years old.
European journal of ophthalmology[Endothelial dystrophies and degenerations of the cornea].
Klinische Monatsblatter fur AugenheilkundePolymorphous corneal dystrophy subtype 3 and keratoconus aggravation after corneal refractive surgery in a three-generation family carrying both ZEB1 and ZNF469 pathogenic variant.
Frontiers in geneticsPentacam-based corneal densitometry in posterior polymorphous corneal dystrophy.
BMJ case reportsFamilial Steep Corneas in Posterior Polymorphous Corneal Dystrophy 3 Due to a Novel ZEB1 Gene Mutation.
CorneaPoor intraoperative visibility and postoperative astigmatism associated with trabecular micro-bypass stent for corneal dystrophy: A case report.
Medicine[Alport syndrome presenting as posterior polymorphous corneal dystrophy: Case report].
Journal francais d'ophtalmologieUnusual finding in a patient with unilateral posterior polymorphous corneal dystrophy: A case report.
Journal francais d'ophtalmologieCorneal pseudoectasia: a case series.
International ophthalmologyOvol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence.
Human molecular geneticsLoss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
Journal of medical geneticsSystematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.
Frontiers in medicinePosterior Polymorphous Corneal Dystrophy: Clinical-Pathologic Correlation.
OphthalmologyPosterior corneal vesicle syndrome or posterior polymorphous corneal dystrophy? A case report of a heterozygous intronic variant in the COL4A3 gene.
Journal francais d'ophtalmologiePosterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation.
International journal of molecular sciencesUnilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl.
Ophthalmic geneticsDescemet Membrane Endothelial Keratoplasty (DMEK) for Severe Verrucous Posterior Polymorphous Corneal Dystrophy with Uncommon Clinical and Ultrastructural Findings.
Klinische Monatsblatter fur AugenheilkundeUpdate on the genetics of corneal endothelial dystrophies.
Indian journal of ophthalmologyBilateral posterior lamellar corneal transplant surgery in an infant of 17 weeks old: Surgical challenges and the added value of intraoperative optical coherence tomography.
Clinical case reportsPosterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.
Acta ophthalmologica[Imaging features of posterior polymorphous corneal dystrophy observed by in vivo confocal microscopy].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyMaculopathy, Fundus Changes and Anterior Lenticonus in Alport Syndrome.
Beyoglu eye journalPosterior Polymorphous Corneal Dystrophy in a Pediatric Population.
Corneac.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.
CorneaClearing the Haze: Navigating Corneal Refractive Surgery in Patients with Posterior Polymorphous Corneal Dystrophy.
Ophthalmology and therapyCorneal ectasia associated with posterior lamellar opacification.
Ophthalmic geneticsNon-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.
GenesExpression and Function of ZEB1 in the Cornea.
CellsCorneal cross-linking for treatment of progressive keratoconus in a patient with Alport syndrome: A case report.
European journal of ophthalmologyEndothelial cell density in children with posterior polymorphous corneal dystrophy: a longitudinal case-control study.
Eye (London, England)Diseases of the corneal endothelium.
Experimental eye researchLaser refractive surgery in corneal dystrophies.
Journal of cataract and refractive surgeryCase Series of Urrets-Zavalia Syndrome After Descemet Membrane Endothelial Keratoplasty.
CorneaSuccessful pediatric DMEK facilitated by intracameral tissue plasminogen activator to mitigate anterior chamber fibrin reaction.
American journal of ophthalmology case reportsCorneal endothelial cell abnormalities in X-linked Alport syndrome.
Ophthalmic geneticsA Mutation in ZNF143 as a Novel Candidate Gene for Endothelial Corneal Dystrophy.
Journal of clinical medicineAlterations in GRHL2-OVOL2-ZEB1 axis and aberrant activation of Wnt signaling lead to altered gene transcription in posterior polymorphous corneal dystrophy.
Experimental eye researchCUGC for posterior polymorphous corneal dystrophy (PPCD).
European journal of human genetics : EJHGZEB1 insufficiency causes corneal endothelial cell state transition and altered cellular processing.
PloS oneDescemet membrane endothelial keratoplasty in iridocorneal endothelial syndrome and posterior polymorphous corneal dystrophy.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieCoincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3.
CorneaAlport Patients without Classic Ocular Symptoms Have Smaller Lens Diameter.
Medical science monitor : international medical journal of experimental and clinical researchThe utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Experimental eye researchInvestigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease.
Investigative ophthalmology & visual scienceGenetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.
Ophthalmology and therapyClinical findings observed by in-vivo confocal microscopy of posterior polymorphous corneal dystrophy.
Journal francais d'ophtalmologieEffect of Posterior Corneal Vesicles on Corneal Endothelial Cell Density and Anisometropic Amblyopia.
CorneaEctopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
American journal of human geneticsEndothelial keratoplasty for posterior polymorphous corneal dystrophy in a 4-month-old infant.
American journal of ophthalmology case reportsElucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function.
Molecular visionRetinal pathology in the PPCD1 mouse.
PloS oneAgenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.
American journal of medical genetics. Part ATranscriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.
Investigative ophthalmology & visual scienceUnilateral Posterior Polymorphous Corneal Dystrophy Presented as Anisometropic Astigmatism: 3 Case Reports.
Case reports in ophthalmologyActive transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients.
PloS oneThick keratoconic cornea associated with posterior polymorphous corneal dystrophy.
Journal francais d'ophtalmologieConfirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.
PloS oneClinical Features in Children with Posterior Polymorphous Corneal Dystrophy.
Optometry and vision science : official publication of the American Academy of OptometryIn vivo confocal microscopic observations of eyes diagnosed with posterior corneal vesicles.
Japanese journal of ophthalmologyClinical characterization of posterior polymorphous corneal dystrophy in patients of Indian ethnicity.
International ophthalmologyInvestigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression.
Investigative ophthalmology & visual scienceIdentification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus.
PloS oneAssociation of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene Expression.
PloS oneContact lens fitting in a patient with Alport syndrome and posterior polymorphous corneal dystrophy: a case report.
Arquivos brasileiros de oftalmologiaAutosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
American journal of human geneticsMutational spectrum of Korean patients with corneal dystrophy.
Clinical geneticsCongenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.
CorneaHeterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.
European journal of human genetics : EJHGPosterior Corneal Steepening in Posterior Polymorphous Corneal Dystrophy.
Optometry and vision science : official publication of the American Academy of OptometryLong-Term Observation of Coexistence of Posterior Polymorphous Corneal Dystrophy, Resultant High Myopia and Nonkeratoconic Developing Corneal Astigmatism: A Case Report of 7-Year Tracking in a Chinese Boy.
Medicine[The revised newest IC³D classification of corneal dystrophies].
Klinische Monatsblatter fur AugenheilkundeOcular features in Alport syndrome: pathogenesis and clinical significance.
Clinical journal of the American Society of Nephrology : CJASNIC3D classification of corneal dystrophies--edition 2.
CorneaAssociações
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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.
- Generation of a Novel Col8a2P2A-CreERT2 Mouse Line Enables Targeted Genetic Manipulation of Corneal Endothelial Cells and Modeling of Endothelial Decompensation.
- Outcomes of descemet's membrane endothelial keratoplasty in patients under thirty years old.
- [Endothelial dystrophies and degenerations of the cornea].
- Pentacam-based corneal densitometry in posterior polymorphous corneal dystrophy.
- Polymorphous corneal dystrophy subtype 3 and keratoconus aggravation after corneal refractive surgery in a three-generation family carrying both ZEB1 and ZNF469 pathogenic variant.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98973(Orphanet)
- MONDO:0020364(MONDO)
- GARD:16882(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q4183965(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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