# Vitreorretinopatia

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

## Identificadores

- **ORPHA**: 98668 — https://www.orpha.net/en/disease/detail/98668
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Vitreorretinopatia é uma condição ocular rara que afeta o vítreo e a retina, podendo causar microftalmia, hemorragias e remanescentes gliais. Frequentemente associada a outras anomalias como calcificações ectópicas e problemas dentários, pode impactar o desenvolvimento infantil.

## Epidemiologia e herança


## Sinais e sintomas (551 fenótipos HPO)

- **Microftalmia** — HPO: HP:0000568
- **Calcificação ectópica** — HPO: HP:0010766
- **Hemorragia ocular** — HPO: HP:0011885
- **Remanescentes gliais anteriores ao disco óptico** — HPO: HP:0030743
- **Agenesia dentária** — HPO: HP:0009804
- **Dificuldades alimentares na infância** — HPO: HP:0008872
- **Estenose do canal espinhal** — HPO: HP:0003416
- **Atrofia do músculo esquelético** — HPO: HP:0003202
- **Micro-retrognatia** — HPO: HP:0000308
- **Epífora** — HPO: HP:0009926
- **Remanescente vascular hialoide e massa retrolenticular** — HPO: HP:0030744
- **Mordida aberta** — HPO: HP:0010807
- **Palato duro curto** — HPO: HP:0010290
- **Protrusão acetabular** — HPO: HP:0003179
- **Luxação do quadril** — HPO: HP:0002827
- **Constituição esguia** — HPO: HP:0001533
- **Arritmia** — HPO: HP:0011675
- **Degeneração retiniana em treliça** — HPO: HP:0007992
- **Epifisiólise femoral proximal** — HPO: HP:0006461
- **Glossoptose** — HPO: HP:0000162
- **Macroglossia** — HPO: HP:0000158
- **Erupção dentária avançada** — HPO: HP:0006288
- **Morfologia anormal da diáfise** — HPO: HP:0000940
- **Dor óssea** — HPO: HP:0002653
- **Refluxo gastroesofágico** — HPO: HP:0002020
- **Morfologia foveal anormal** — HPO: HP:0000493
- **Anormalidade do movimento ocular** — HPO: HP:0000496
- **Líquido sub-retiniano** — HPO: HP:0031526
- **Uveíte anterior** — HPO: HP:0012122
- **Atraso global leve do desenvolvimento** — HPO: HP:0011342
- **Telangiectasia macular** — HPO: HP:0030503
- **Exsudato macular** — HPO: HP:0030496
- **Densidade mineral óssea reduzida** — HPO: HP:0004349
- **Morfologia anormal do disco óptico** — HPO: HP:0012795
- **Tortuosidade arteriolar retiniana** — HPO: HP:0001136
- **Retinopatia da prematuridade** — HPO: HP:0500049
- **Nascimento prematuro** — HPO: HP:0001622
- **Pequeno para a idade gestacional** — HPO: HP:0001518
- **Ausência de reflexo foveal** — HPO: HP:0030825
- **Dorso nasal deprimido** — HPO: HP:0000457
- _...e mais 511 sintomas. Ver https://raras.org/doenca/vitreorretinopatia._

## Genes associados (28)

- **FZD4** — Frizzled-4 [Disease-causing germline mutation(s) in]
  - Função: Receptor for Wnt proteins (PubMed:30135577). Most frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibit
- **BMP4** — Bone morphogenetic protein 4 [Candidate gene tested in]
  - Função: Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885). Act
- **COL9A1** — Collagen alpha-1(IX) chain [Disease-causing germline mutation(s) in]
  - Função: Structural component of hyaline cartilage and vitreous of the eye
- **KCNJ13** — Inward rectifier potassium channel 13 [Disease-causing germline mutation(s) in]
  - Função: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration o
- **ATOH7** — Transcription factor ATOH7 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor that binds to DNA at the consensus sequence 5'-CAG[GC]TG-3' (PubMed:31696227). Dimerization with TCF3 isoform E47 may be required in certain situations (PubMed:31696227). Binds to
- **CDKL5** — Cyclin-dependent kinase-like 5 [Disease-causing germline mutation(s) in]
  - Função: Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175)
- **POT1** — Protection of telomeres protein 1 [Disease-causing germline mutation(s) in]
  - Função: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which
- **ZNF408** — Zinc finger protein 408 [Disease-causing germline mutation(s) in]
  - Função: May be involved in transcriptional regulation
- **PAK2** — Serine/threonine-protein kinase PAK 2 [Disease-causing germline mutation(s) in]
  - Função: Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell motility, cell cycle progression, apoptosis or proliferation (Pub
- **STN1** — CST complex subunit STN1 [Disease-causing germline mutation(s) in]
  - Função: Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere d
- **CTNNB1** — Catenin beta-1 [Disease-causing germline mutation(s) in]
  - Função: Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938)
- **COL9A2** — Collagen alpha-2(IX) chain [Disease-causing germline mutation(s) in]
  - Função: Structural component of hyaline cartilage and vitreous of the eye
- **DYNC1H1** — Cytoplasmic dynein 1 heavy chain 1 [Disease-causing germline mutation(s) in]
  - Função: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to
- **CAPN5** — Calpain-5 [Disease-causing germline mutation(s) in]
  - Função: Calcium-regulated non-lysosomal thiol-protease
- **BEST1** — Bestrophin-1 [Disease-causing germline mutation(s) in]
  - Função: Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+) (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:1985323

## Ensaios clínicos ativos (8)

- **NCT06033703** [RECRUITING]: Topical Netarsudil for the Prevention of Proliferative Vitreoretinopathy in Patients With Retinal Detachment — https://clinicaltrials.gov/study/NCT06033703
- **NCT05523869** [RECRUITING]: Intravitreal Topotecan in the Repair of Rhegmatogenous Retinal Detachment with Proliferative Vitreoretinopathy — https://clinicaltrials.gov/study/NCT05523869
- **NCT06541574** [RECRUITING]: Prevention of ProliFerative Vitreoretinopathy with Intravitreal MethotreXate in Primary Retinal DEtachment Repair (FIXER) Trial — https://clinicaltrials.gov/study/NCT06541574
- **NCT05660447** [ACTIVE_NOT_RECRUITING]: A Multi-Center Study on the Use of Rho-Kinase Inhibitor to Reduce or Prevent PVR in RRD Eyes at High Risk for PVR — https://clinicaltrials.gov/study/NCT05660447
- **NCT07386678** [NOT_YET_RECRUITING]: Study of Imaging and Molecular Biomarkers in Uncomplicated Rhegmatogenous Retinal Detachment — https://clinicaltrials.gov/study/NCT07386678
- **NCT06425419** [NOT_YET_RECRUITING]: The Safety and Efficacy of Intravitreal Topotecan for the Treatment of Proliferative Vitreoretinopathy — https://clinicaltrials.gov/study/NCT06425419
- **NCT06818721** [NOT_YET_RECRUITING]: Intravitreal Topotecan for Prevention or Treatment of Proliferative Vitreoretinopathy in Retinal Detachment — https://clinicaltrials.gov/study/NCT06818721
- **NCT05538156** [NOT_YET_RECRUITING]: Internal Limiting Membrane Peeling in Retinal Detachment Surgery — https://clinicaltrials.gov/study/NCT05538156
- **NCT07162818** [COMPLETED]: Effects of 0.1% Nepafenac on Vitreous Inflammatory Biomarkers in Rhegmatogenous Retinal Detachment and Proliferative Vitreoretinopathy — https://clinicaltrials.gov/study/NCT07162818
- **NCT05620901** [COMPLETED]: DEXTENZA in Pediatric Patients Following Retinal Surgery or Laser Treatment Under Anesthesia — https://clinicaltrials.gov/study/NCT05620901

## Doenças relacionadas (por similaridade fenotípica)

- [Vitreorretinopatia exsudativa familiar](https://raras.org/doenca/vitreorretinopatia-exsudativa-familiar) — ORPHA:891 — 143 sintomas em comum
- [Síndrome Stickler](https://raras.org/doenca/sindrome-stickler) — ORPHA:828 — 130 sintomas em comum
- [Incontinência pigmentar](https://raras.org/doenca/incontinencia-pigmentar) — ORPHA:464 — 90 sintomas em comum
- [Monossomia parcial do braço curto do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-1) — ORPHA:261857 — 87 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 86 sintomas em comum
- [Iridogoniodisgenesia](https://raras.org/doenca/iridogoniodisgenesia) — ORPHA:98634 — 83 sintomas em comum
- [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 83 sintomas em comum
- [Síndrome cardio-facio-cutâneo](https://raras.org/doenca/sindrome-cardio-facio-cutaneo) — ORPHA:1340 — 83 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 81 sintomas em comum
- [Trissomia parcial do braço curto do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-braco-curto-do-cromossomo-16) — ORPHA:262794 — 80 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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