# Microftalmia colobomatosa

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

## Identificadores

- **ORPHA**: 98938 — https://www.orpha.net/en/disease/detail/98938
- **CID-10**: Q11.2
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

É uma condição de desenvolvimento do olho em que um ou os dois olhos são menores do que o normal (microftalmia). Essa condição vem acompanhada de um coloboma, que é uma falha ou fenda em alguma parte da estrutura do olho.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive

## Sinais e sintomas (50 fenótipos HPO)

- **Filtro longo** — HPO: HP:0000343
- **Coloboma corioretiniano inferior** — HPO: HP:0031613
- **Hipermetropia alta** — HPO: HP:0008499
- **Fotofobia** — HPO: HP:0000613
- **Coloboma retiniano** — HPO: HP:0000480
- **Cisto orbital** — HPO: HP:0001144
- **Catarata cortical** — HPO: HP:0100019
- **Hipoplasia do disco óptico** — HPO: HP:0007766
- **Morfologia anormal do osso temporal** — HPO: HP:0009911
- **Hipoplasia da fóvea** — HPO: HP:0007750
- **Microcoria** — HPO: HP:0025492
- **Fossa óptica** — HPO: HP:0034567
- **Orelhas de implantação baixa** — HPO: HP:0000369
- **Fissura palpebral estreita** — HPO: HP:0045025
- **Holoprosencefalia** — HPO: HP:0001360
- **Anoſtalmia** — HPO: HP:0000528
- **Coloboma da íris** — HPO: HP:0000612
- **Microftalmia** — HPO: HP:0000568
- **Anormalidade da visão** — HPO: HP:0000504
- **Fenda orofacial** — HPO: HP:0000202
- **Microftalmia bilateral** — HPO: HP:0007633
- **Esclerocórnea** — HPO: HP:0000647
- **Macrotia** — HPO: HP:0000400
- **Deficiência intelectual** — HPO: HP:0001249
- **Descolamento de retina** — HPO: HP:0000541
- **Nistagmo pendular** — HPO: HP:0012043
- **Ptose** — HPO: HP:0000508
- **Deficiência visual** — HPO: HP:0000505
- **Coloboma macular** — HPO: HP:0001116
- **Hipertelorismo** — HPO: HP:0000316
- **Anormalidade do desenvolvimento do segmento anterior** — HPO: HP:0007700
- **Coloboma corioretiniano** — HPO: HP:0000567
- **Estrabismo** — HPO: HP:0000486
- **Perfuração retiniana** — HPO: HP:0011958
- **Microcórnea** — HPO: HP:0000482
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Alta miopia** — HPO: HP:0011003
- **Catarata nuclear** — HPO: HP:0100018
- **Nistagmo** — HPO: HP:0000639
- **Cegueira** — HPO: HP:0000618
- _...e mais 10 sintomas. Ver https://raras.org/doenca/microftalmia-colobomatosa._

## Genes associados (16)

- **SOX2** — Transcription factor SOX-2 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarit
- **NHEJ1** — Non-homologous end-joining factor 1 [Disease-causing germline mutation(s) in]
  - Função: DNA repair protein involved in DNA non-homologous end joining (NHEJ); it is required for double-strand break (DSB) repair and V(D)J recombination and is also involved in telomere maintenance (PubMed:1
- **FZD5** — Frizzled-5 [Disease-causing germline mutation(s) in]
  - Função: Receptor for Wnt proteins (PubMed:10097073, PubMed:20530549, PubMed:26908622, PubMed:9054360). Functions in the canonical Wnt/beta-catenin signaling pathway. In vitro activates WNT2, WNT10B, WNT5A, bu
- **STRA6** — Receptor for retinol uptake STRA6 [Disease-causing germline mutation(s) in]
  - Função: Functions as a retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to
- **RAX** — Interferon-inducible double-stranded RNA-dependent protein kinase activator A [Disease-causing germline mutation(s) in]
  - Função: Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA produc
- **SIX6** — Homeobox protein SIX6 [Candidate gene tested in]
  - Função: May be involved in eye development
- **GDF3** — Growth/differentiation factor 3 [Disease-causing germline mutation(s) in]
  - Função: Growth factor involved in early embryonic development and adipose-tissue homeostasis. During embryogenesis controls formation of anterior visceral endoderm and mesoderm and the establishment of anteri
- **TENM3** — Teneurin-3 [Disease-causing germline mutation(s) in]
  - Função: Involved in neural development by regulating the establishment of proper connectivity within the nervous system. Acts in both pre- and postsynaptic neurons in the hippocampus to control the assembly o
- **ABCB6** — ATP-binding cassette sub-family B member 6 [Disease-causing germline mutation(s) in]
  - Função: ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen (PubMed:176
- **SHH** — Sonic hedgehog protein [Disease-causing germline mutation(s) in]
  - Função: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-lengt
- **PORCN** — Protein-serine O-palmitoleoyltransferase porcupine [Disease-causing germline mutation(s) in]
  - Função: Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1(9Z)), to W
- **RBP4** — Retinol-binding protein 4 [Disease-causing germline mutation(s) in]
  - Função: Retinol-binding protein that mediates retinol transport in blood plasma (PubMed:5541771). Delivers retinol from the liver stores to the peripheral tissues (Probable). Transfers the bound all-trans ret
- **ALDH1A3** — Retinaldehyde dehydrogenase 3 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-1
- **VSX2** — Visual system homeobox 2 [Disease-causing germline mutation(s) in]
  - Função: Acts as a transcriptional regulator through binding to DNA at the consensus sequence 5'-[TC]TAATT[AG][AG]-3' upstream of gene promoters (PubMed:27301076). Plays a significant role in the specification
- **GDF6** — Growth/differentiation factor 6 [Candidate gene tested in]
  - Função: Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral

## Doenças relacionadas (por similaridade fenotípica)

- [Microftalmia isolada-anoftalmia-coloboma](https://raras.org/doenca/microftalmia-isolada-anoftalmia-coloboma) — ORPHA:2542 — 50 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 21 sintomas em comum
- [Iridogoniodisgenesia](https://raras.org/doenca/iridogoniodisgenesia) — ORPHA:98634 — 20 sintomas em comum
- [Síndrome Joubert com defeito oculorrenal](https://raras.org/doenca/sindrome-joubert-com-defeito-oculorrenal) — ORPHA:2318 — 18 sintomas em comum
- [Vitreorretinopatia exsudativa familiar](https://raras.org/doenca/vitreorretinopatia-exsudativa-familiar) — ORPHA:891 — 18 sintomas em comum
- [Retinite pigmentosa](https://raras.org/doenca/retinite-pigmentosa) — ORPHA:791 — 18 sintomas em comum
- [Distrofia da córnea](https://raras.org/doenca/distrofia-da-cornea) — ORPHA:34533 — 17 sintomas em comum
- [Síndrome de Hermansky-Pudlak](https://raras.org/doenca/sindrome-de-hermansky-pudlak) — ORPHA:79430 — 17 sintomas em comum
- [Monossomia parcial do braço longo do cromossomo 11](https://raras.org/doenca/monossomia-parcial-do-braco-longo-do-cromossomo-11) — ORPHA:262092 — 17 sintomas em comum
- [Displasia oculo-dento-digital](https://raras.org/doenca/displasia-oculo-dento-digital) — ORPHA:2710 — 16 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 — Microftalmia colobomatosa. Disponível em: https://raras.org/doenca/microftalmia-colobomatosa
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