# Distrofia da córnea

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

## Identificadores

- **ORPHA**: 34533 — https://www.orpha.net/en/disease/detail/34533
- **CID-10**: H18.5
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O termo distrofia corneana abrange um grupo heterogêneo de doenças bilaterais não inflamatórias da córnea, geneticamente determinadas, que geralmente são restritas à córnea. A designação é imprecisa, mas permanece em voga devido ao seu valor clínico.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked recessive

## Sinais e sintomas (160 fenótipos HPO)

- **Coloboma** — HPO: HP:0000589
- **Opacificação puntiforme da córnea** — HPO: HP:0007856
- **Cardiomiopatia** — HPO: HP:0001638
- **Distrofia corneana cristalina** — HPO: HP:0007760
- **Urolitíase** — HPO: HP:0034368
- **Pescoço curto** — HPO: HP:0000470
- **Ceratopatia em faixa** — HPO: HP:0000585
- **Opacidades puntiformes multicoloridas do estroma corneano posterior** — HPO: HP:0034327
- **Deficiência visual** — HPO: HP:0000505
- **Hipermetropia** — HPO: HP:0000540
- **Suscetibilidade a hematomas** — HPO: HP:0000978
- **Catarata nuclear** — HPO: HP:0100018
- **Ambliopia** — HPO: HP:0000646
- **Blefaroespasmo** — HPO: HP:0000643
- **Distrofia macular** — HPO: HP:0007754
- **Atrofia da língua** — HPO: HP:0012473
- **Xerostomia** — HPO: HP:0000217
- **Amiloidose macular cutânea** — HPO: HP:0032347
- **Ptose bilateral** — HPO: HP:0001488
- **Hipoplasia macular** — HPO: HP:0001104
- **Edema estromal da córnea** — HPO: HP:0012040
- **Blefarocalasia** — HPO: HP:0010749
- **Anormalidade da refração** — HPO: HP:0000539
- **Paraqueratose** — HPO: HP:0001036
- **Carcinoma** — HPO: HP:0030731
- **Deposição amiloide glomerular renal** — HPO: HP:0032614
- **Dobras da membrana de Descemet** — HPO: HP:0012039
- **Cicatriz corneana** — HPO: HP:0000559
- **Anormalidade regional da pele** — HPO: HP:0011356
- **Degeneração corneana** — HPO: HP:0007705
- **Hipotensão ortostática** — HPO: HP:0001278
- **Leucoplasia oral** — HPO: HP:0002745
- **Depressão** — HPO: HP:0000716
- **Epífora** — HPO: HP:0009926
- **Neuropatia sensorial periférica distal** — HPO: HP:0007067
- **Número reduzido de células endoteliais da córnea** — HPO: HP:0011491
- **Dor induzida pelo movimento ocular** — HPO: HP:0030857
- **Diminuição lenta da acuidade visual** — HPO: HP:0007924
- **Ceratose pilar** — HPO: HP:0032152
- **Microcórnea** — HPO: HP:0000482
- _...e mais 120 sintomas. Ver https://raras.org/doenca/distrofia-da-cornea._

## Genes associados (23)

- **OVOL2** — Transcription factor Ovo-like 2 [Disease-causing germline mutation(s) in]
  - Função: 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
- **KRT3** — Keratin, type II cytoskeletal 3 [Disease-causing germline mutation(s) in]
- **PIKFYVE** — 1-phosphatidylinositol 3-phosphate 5-kinase [Disease-causing germline mutation(s) in]
  - Função: Dual specificity kinase implicated in myriad essential cellular processes such as maintenance of endomembrane homeostasis, and endocytic-vacuolar pathway, lysosomal trafficking, nuclear transport, str
- **GSN** — Gelsolin [Disease-causing germline mutation(s) in]
  - Função: Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly o
- **TACSTD2** — Tumor-associated calcium signal transducer 2 [Disease-causing germline mutation(s) in]
  - Função: May function as a growth factor receptor
- **CHST6** — Carbohydrate sulfotransferase 6 [Disease-causing germline mutation(s) in]
  - Função: 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 kerat
- **TCF4** — Transcription factor 4 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3').
- **GRHL2** — Grainyhead-like protein 2 homolog [Disease-causing germline mutation(s) in]
  - Função: 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' acti
- **COL8A2** — Collagen alpha-2(VIII) chain [Disease-causing germline mutation(s) in]
  - Função: 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. Necess
- **PRDX3** — Thioredoxin-dependent peroxide reductase, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by
- **UBIAD1** — UbiA prenyltransferase domain-containing protein 1 [Disease-causing germline mutation(s) in]
  - Função: Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10 (PubMed:20953171, PubMed:23374346). MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kid
- **MCOLN1** — Mucolipin-1 [Disease-causing germline mutation(s) in]
  - Função: Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis (PubMed:11013137, PubMed:12459486, PubMed:14749347, PubMed:15336987, PubMe
- **COL17A1** — Collagen alpha-1(XVII) chain [Disease-causing germline mutation(s) in]
  - Função: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane The 120 kDa linear IgA disease antigen is an anchoring filament componen
- **DCN** — Decorin [Disease-causing germline mutation(s) in]
  - Função: May affect the rate of fibrils formation
- **SLC4A11** — Solute carrier family 4 member 11 [Disease-causing germline mutation(s) in]
  - Função: Multifunctional transporter with an impact in cell morphology and differentiation. In the presence of borate B(OH)4(-), acts as a voltage-dependent electrogenic Na(+)-coupled B(OH)4(-) cotransporter c

## Medicamentos em desenvolvimento (5)

- RIPASUDIL — Fase Phase 3 (Rho-associated protein kinase inhibitor)
- NETARSUDIL — Fase Phase 2 (Rho-associated protein kinase inhibitor)
- RIPASUDIL HYDROCHLORIDE DIHYDRATE — Fase Phase 2 (Rho-associated protein kinase inhibitor)
- ROVATIRELIN — Fase Phase 2 (Thyrotropin-releasing hormone receptor agonist)
- NEPAFENAC — Fase Phase 2 (Cyclooxygenase inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0018102

## Ensaios clínicos ativos (17)

- **NCT07373821** [RECRUITING]: Influence of Supine Positioning on the Outcomes After Descemet Membrane Endothelial Keratoplasty (DMEK) — https://clinicaltrials.gov/study/NCT07373821
- **NCT07024693** [RECRUITING]: DT-168 in Keratoplasty Patients With Fuchs Endothelial Corneal Dystrophy — https://clinicaltrials.gov/study/NCT07024693
- **NCT05636579** [RECRUITING]: Study to Assess Safety and Tolerability of Multiple Doses of EO2002 — https://clinicaltrials.gov/study/NCT05636579
- **NCT07265388** [RECRUITING]: SUCCESS Score Validation in Fuchs Dystrophy — https://clinicaltrials.gov/study/NCT07265388
- **NCT04129021** [RECRUITING]: High Resolution, High-speed Multimodal Ophthalmic Imaging — https://clinicaltrials.gov/study/NCT04129021
- **NCT04440280** [RECRUITING]: Targeting Reactive Oxygen Species Production as a Novel Therapeutic in Fuch's Endothelial Corneal Dystrophy — https://clinicaltrials.gov/study/NCT04440280
- **NCT03504800** [RECRUITING]: OCT in Diagnosis of Irregular Corneas — https://clinicaltrials.gov/study/NCT03504800
- **NCT06491615** [RECRUITING]: National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases — https://clinicaltrials.gov/study/NCT06491615
- **NCT06844123** [RECRUITING]: Microsurgical Robot-assisted Corneal Transplant — https://clinicaltrials.gov/study/NCT06844123
- **NCT06966167** [RECRUITING]: Comparison of Outcomes Between Femtosecond Laser-Assisted and Conventional Phacoemulsification in Fuchs Endothelial Corneal Dystrophy Patients With Cataracts — https://clinicaltrials.gov/study/NCT06966167

## Doenças relacionadas (por similaridade fenotípica)

- [Amiloidose familiar tipo finlandês](https://raras.org/doenca/amiloidose-familiar-tipo-finlandes) — ORPHA:85448 — 55 sintomas em comum
- [Distrofia do estroma da córnea](https://raras.org/doenca/distrofia-do-estroma-da-cornea) — ORPHA:98626 — 51 sintomas em comum
- [Distrofia da córnea anterior](https://raras.org/doenca/distrofia-da-cornea-anterior) — ORPHA:98625 — 49 sintomas em comum
- [Distrofia da córnea posterior](https://raras.org/doenca/distrofia-da-cornea-posterior) — ORPHA:98627 — 45 sintomas em comum
- [Distrofia corneana, polimorfa posterior](https://raras.org/doenca/distrofia-corneana-polimorfa-posterior) — ORPHA:98973 — 30 sintomas em comum
- [Iridogoniodisgenesia](https://raras.org/doenca/iridogoniodisgenesia) — ORPHA:98634 — 28 sintomas em comum
- [Amiloidose ATTR hereditária](https://raras.org/doenca/amiloidose-attr-hereditaria) — ORPHA:271861 — 25 sintomas em comum
- [Uveíte](https://raras.org/doenca/uveite) — ORPHA:98715 — 21 sintomas em comum
- [Retinite pigmentosa](https://raras.org/doenca/retinite-pigmentosa) — ORPHA:791 — 21 sintomas em comum
- [Tricotiodistrofia](https://raras.org/doenca/tricotiodistrofia) — ORPHA:33364 — 21 sintomas em comum

## Importante

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

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