# Catarata parcial de início precoce

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

## Identificadores

- **ORPHA**: 98992 — https://www.orpha.net/en/disease/detail/98992
- **CID-10**: Q12.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Catarata parcial de início precoce é uma condição hereditária rara que causa opacificação parcial do cristalino, afetando a visão desde a infância. Pode estar associada a mutações nos genes HSF4, GJA8, FYCO1, BFSP1 ou LEMD2.

## Epidemiologia e herança


## Sinais e sintomas (14 fenótipos HPO)

- **Ambliopia** — HPO: HP:0000646
- **Alta miopia** — HPO: HP:0011003
- **Catarata pulverulenta** — HPO: HP:0010693
- **Acuidade visual levemente reduzida** — HPO: HP:0032037
- **Lenticone anterior** — HPO: HP:0011501
- **Catarata polar anterior** — HPO: HP:0001134
- **Distrofia retiniana** — HPO: HP:0000556
- **Catarata polar posterior** — HPO: HP:0001115
- **Catarata do desenvolvimento** — HPO: HP:0000519
- **Perda visual** — HPO: HP:0000572
- **Lenticone** — HPO: HP:0001142
- **Catarata nuclear difusa** — HPO: HP:0007657
- **Catarata nuclear** — HPO: HP:0100018
- **Catarata** — HPO: HP:0000518

## Genes associados (29)

- **CRYAA** — Alpha-crystallin A chain [Candidate gene tested in]
  - Função: Contributes to the transparency and refractive index of the lens (PubMed:18302245). In its oxidized form (absence of intramolecular disulfide bond), acts as a chaperone, preventing aggregation of vari
- **BFSP2** — Phakinin [Candidate gene tested in]
  - Função: Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Plays a role in maintenance of retinal lens optical clarity
- **PITX3** — Pituitary homeobox 3 [Candidate gene tested in]
  - Função: Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during developme
- **CRYGS** — Gamma-crystallin S [Candidate gene tested in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **CRYGB** — Gamma-crystallin B [Candidate gene tested in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **VIM** — Vimentin [Disease-causing germline mutation(s) in]
  - Função: Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either
- **NHS** — Actin remodeling regulator NHS [Candidate gene tested in]
  - Função: May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial devel
- **CRYGC** — Gamma-crystallin C [Candidate gene tested in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **CRYBA4** — Beta-crystallin A4 [Candidate gene tested in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **UNC45B** — Protein unc-45 homolog B [Candidate gene tested in]
  - Função: Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens d
- **CRYGD** — Gamma-crystallin D [Candidate gene tested in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **CRYBA2** — Beta-crystallin A2 [Candidate gene tested in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **CRYBB1** — Beta-crystallin B1 [Candidate gene tested in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **CHMP4B** — Charged multivesicular body protein 4b [Candidate gene tested in]
  - Função: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into
- **CRYBB2** — Beta-crystallin B2 [Candidate gene tested in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens

## Ensaios clínicos ativos (1)

- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168

## Doenças relacionadas (por similaridade fenotípica)

- [Catarata não-sindrômica de início precoce](https://raras.org/doenca/catarata-nao-sindromica-de-inicio-precoce) — ORPHA:91492 — 14 sintomas em comum
- [Retinite pigmentosa](https://raras.org/doenca/retinite-pigmentosa) — ORPHA:791 — 7 sintomas em comum
- [Catarata zonular de início precoce](https://raras.org/doenca/catarata-zonular-de-inicio-precoce) — ORPHA:98995 — 7 sintomas em comum
- [Distrofia dos cones e bastonetes](https://raras.org/doenca/distrofia-dos-cones-e-bastonetes) — ORPHA:1872 — 5 sintomas em comum
- [Síndrome Alport](https://raras.org/doenca/sindrome-alport) — ORPHA:63 — 5 sintomas em comum
- [Síndrome de microftalmia com defeitos cutâneos lineares](https://raras.org/doenca/sindrome-de-microftalmia-com-defeitos-cutaneos-lineares) — ORPHA:2556 — 5 sintomas em comum
- [Distrofia da córnea](https://raras.org/doenca/distrofia-da-cornea) — ORPHA:34533 — 5 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 4 sintomas em comum
- [Síndrome Senior-Loken](https://raras.org/doenca/sindrome-senior-loken) — ORPHA:3156 — 4 sintomas em comum
- [Síndrome Knobloch](https://raras.org/doenca/sindrome-knobloch) — ORPHA:1571 — 4 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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**Citação sugerida**: Raras.org — Catarata parcial de início precoce. Disponível em: https://raras.org/doenca/catarata-parcial-de-inicio-precoce
**Formato HTML**: https://raras.org/doenca/catarata-parcial-de-inicio-precoce
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=98992