# Microftalmia isolada-anoftalmia-coloboma

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

## Identificadores

- **ORPHA**: 2542 — https://www.orpha.net/en/disease/detail/2542
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A anoftalmia e a microftalmia descrevem, respectivamente, a ausência de um olho e a presença de um olho pequeno na órbita.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, X-linked recessive

## Sinais e sintomas (70 fenótipos HPO)

- **Glaucoma de ângulo fechado** — HPO: HP:0012109
- **Morfologia anormal da coroide** — HPO: HP:0000610
- **Coloboma corioretiniano inferior** — HPO: HP:0031613
- **Anormalidade da pigmentação retiniana** — HPO: HP:0007703
- **Fotofobia** — HPO: HP:0000613
- **Cisto orbital** — HPO: HP:0001144
- **Catarata cortical** — HPO: HP:0100019
- **Hipertensão ocular** — HPO: HP:0007906
- **Dobra retiniana** — HPO: HP:0008052
- **Espessamento escleral** — HPO: HP:0030823
- **Ambliopia** — HPO: HP:0000646
- **Hipoplasia do disco óptico** — HPO: HP:0007766
- **Morfologia anormal do osso temporal** — HPO: HP:0009911
- **Hipoplasia da fóvea** — HPO: HP:0007750
- **Hipermetropia alta** — HPO: HP:0008499
- **Anormalidade do tamanho da córnea** — HPO: HP:0001120
- **Hipoplasia do nervo óptico** — HPO: HP:0000609
- **Microcoria** — HPO: HP:0025492
- **Fossa óptica** — HPO: HP:0034567
- **Hipermetropia** — HPO: HP:0000540
- **Microftalmia bilateral** — HPO: HP:0007633
- **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
- **Polidactilia pós-axial** — HPO: HP:0100259
- **Testículo ausente** — HPO: HP:0010469
- **Coloboma** — HPO: HP:0000589
- **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
- _...e mais 30 sintomas. Ver https://raras.org/doenca/microftalmia-isolada-anoftalmia-coloboma._

## Genes associados (22)

- **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
- **OTX2** — Homeobox protein OTX2 [Candidate gene tested in]
  - Função: Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'
- **CRB1** — Protein crumbs homolog 1 [Candidate gene tested in]
  - Função: Plays a role in photoreceptor morphogenesis in the retina (By similarity). May maintain cell polarization and adhesion (By similarity)
- **STRA6** — Receptor for retinol uptake STRA6 [Candidate gene tested 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
- **PORCN** — Protein-serine O-palmitoleoyltransferase porcupine [Candidate gene tested 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
- **SIX6** — Homeobox protein SIX6 [Candidate gene tested in]
  - Função: May be involved in eye development
- **BEST1** — Bestrophin-1 [Candidate gene tested 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
- **SOX2** — Transcription factor SOX-2 [Candidate gene tested 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
- **MYRF** — Myelin regulatory factor [Disease-causing germline mutation(s) in]
  - Função: Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of c
- **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
- **PRSS56** — Serine protease 56 [Disease-causing germline mutation(s) in]
  - Função: Serine protease required during eye development
- **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
- **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
- **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
- **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

## Ensaios clínicos ativos (3)

- **NCT01778543** [RECRUITING]: Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC) — https://clinicaltrials.gov/study/NCT01778543
- **NCT05954403** [RECRUITING]: National Cohort on Congenital Defects of the Eye — https://clinicaltrials.gov/study/NCT05954403
- **NCT06293560** [RECRUITING]: Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children — https://clinicaltrials.gov/study/NCT06293560
- **NCT04833361** [COMPLETED]: Potential Environmental Causes of Uveal Coloboma — https://clinicaltrials.gov/study/NCT04833361

## Doenças relacionadas (por similaridade fenotípica)

- [Microftalmia colobomatosa](https://raras.org/doenca/microftalmia-colobomatosa) — ORPHA:98938 — 50 sintomas em comum
- [Iridogoniodisgenesia](https://raras.org/doenca/iridogoniodisgenesia) — ORPHA:98634 — 25 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 24 sintomas em comum
- [Retinite pigmentosa](https://raras.org/doenca/retinite-pigmentosa) — ORPHA:791 — 23 sintomas em comum
- [Vitreorretinopatia exsudativa familiar](https://raras.org/doenca/vitreorretinopatia-exsudativa-familiar) — ORPHA:891 — 21 sintomas em comum
- [Uveíte](https://raras.org/doenca/uveite) — ORPHA:98715 — 21 sintomas em comum
- [Distrofia da córnea](https://raras.org/doenca/distrofia-da-cornea) — ORPHA:34533 — 21 sintomas em comum
- [Síndrome de Hermansky-Pudlak](https://raras.org/doenca/sindrome-de-hermansky-pudlak) — ORPHA:79430 — 19 sintomas em comum
- [Síndrome Joubert com defeito oculorrenal](https://raras.org/doenca/sindrome-joubert-com-defeito-oculorrenal) — ORPHA:2318 — 19 sintomas em comum
- [Síndrome de microcefalia-linfedema-coriorretinopatia](https://raras.org/doenca/sindrome-de-microcefalia-linfedema-coriorretinopatia) — ORPHA:2526 — 19 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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