# NÃO RARA NA EUROPA: Degenerescência macular relacionada com a idade

> Página oficial: https://raras.org/doenca/nao-rara-na-europa-degenerescencia-macular-relacionada-com-a-idade
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 279 — https://www.orpha.net/en/disease/detail/279
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Perda de visão que acontece com a idade, na mácula (a parte central da retina), causada pelo desgaste ou deterioração da própria retina.

## Epidemiologia e herança


## Sinais e sintomas (26 fenótipos HPO)

- **Degeneração macular** — HPO: HP:0000608
- **Distrofia macular** — HPO: HP:0007754
- **Discromatopsia vermelho-verde** — HPO: HP:0000642
- **Anel perifoveal de hiperautofluorescência** — HPO: HP:0030629
- **Alta miopia** — HPO: HP:0011003
- **Acuidade visual reduzida** — HPO: HP:0007663
- **Escotoma central** — HPO: HP:0000603
- **Maculopatia em olho de boi** — HPO: HP:0011504
- **Deficiência visual** — HPO: HP:0000505
- **Palidez do disco óptico** — HPO: HP:0000543
- **Velocidade de condução nervosa diminuída** — HPO: HP:0000762
- **Pé cavo** — HPO: HP:0001761
- **Fraqueza muscular distal** — HPO: HP:0002460
- **Amiotrofia distal** — HPO: HP:0003693
- **Neuropatia axonal periférica** — HPO: HP:0003477
- **Drusas** — HPO: HP:0011510
- **Comprometimento sensorial distal** — HPO: HP:0002936
- **Pele hiperextensível** — HPO: HP:0000974
- **Reflexo patelar diminuído** — HPO: HP:0011808
- **Neovascularização coroide** — HPO: HP:0011506
- **Hipermobilidade articular** — HPO: HP:0001382
- **Drusas maculares** — HPO: HP:0030499
- **Atrofia geográfica** — HPO: HP:0031609
- **Hipopigmentação foveal** — HPO: HP:0012643
- **Perda visual progressiva** — HPO: HP:0000529
- **Hemorragia macular** — HPO: HP:0025574

## Genes associados (15)

- **FBLN5** — Fibulin-5 [Disease-causing germline mutation(s) in]
  - Função: Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes
- **MFSD8** — Major facilitator superfamily domain-containing protein 8 [Disease-causing germline mutation(s) in]
  - Função: Outward-rectifying chloride channel involved in endolysosomal chloride homeostasis, membrane fusion and function. Conducts chloride currents up to hundreds of picoamperes. Regulates lysosomal calcium
- **RAX2** — Retina and anterior neural fold homeobox protein 2 [Disease-causing germline mutation(s) in]
  - Função: May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter
- **CST3** — Cystatin-C [Candidate gene tested in]
  - Função: As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity
- **CX3CR1** — CX3C chemokine receptor 1 [Candidate gene tested in]
  - Função: Receptor for the C-X3-C chemokine fractalkine (CX3CL1) present on many early leukocyte cells; CX3CR1-CX3CL1 signaling exerts distinct functions in different tissue compartments, such as immune respons
- **C2** — Complement C2 [Candidate gene tested in]
  - Função: Precursor of the catalytic component of the C3 and C5 convertase complexes, which are part of the complement pathway, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and si
- **CFH** — Complement factor H [Candidate gene tested in]
  - Função: Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Acts as a soluble inhibitor of complement, where its binding to self marke
- **ARMS2** — Age-related maculopathy susceptibility protein 2 [Candidate gene tested in]
- **APOE** — Apolipoprotein E [Candidate gene tested in]
  - Função: APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids (PubMed:14754
- **CFB** — Complement factor B [Candidate gene tested in]
  - Função: Precursor of the catalytic component of the C3 and C5 convertase complexes of the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathog
- **HMCN1** — Hemicentin-1 [Candidate gene tested in]
  - Função: Involved in transforming growth factor beta-mediated rearrangement of the podocyte cytoskeleton which includes reduction of F-actin fibers and broadening, flattening and elongation of podocytes (PubMe
- **ABCA4** — Retinal-specific phospholipid-transporting ATPase ABCA4 [Candidate gene tested in]
  - Função: Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (N-Ret-PE)
- **CFHR1** — Complement factor H-related protein 1 [Candidate gene tested in]
  - Função: Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with li
- **CFHR3** — Complement factor H-related protein 3 [Candidate gene tested in]
  - Função: Might be involved in complement regulation
- **C3** — Complement C3 [Candidate gene tested in]
  - Função: Precursor of non-enzymatic components of the classical, alternative, lectin and GZMK complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens a

## Doenças relacionadas (por similaridade fenotípica)

- [Retinite pigmentosa](https://raras.org/doenca/retinite-pigmentosa) — ORPHA:791 — 11 sintomas em comum
- [Neuropatia sensitiva e motora hereditária tipo 6](https://raras.org/doenca/neuropatia-sensitiva-e-motora-hereditaria-tipo-6) — ORPHA:90120 — 10 sintomas em comum
- [Distrofia dos cones e bastonetes](https://raras.org/doenca/distrofia-dos-cones-e-bastonetes) — ORPHA:1872 — 10 sintomas em comum
- [Vitreorretinopatia exsudativa familiar](https://raras.org/doenca/vitreorretinopatia-exsudativa-familiar) — ORPHA:891 — 9 sintomas em comum
- [Doença do metabolismo da ornitina](https://raras.org/doenca/doenca-do-metabolismo-da-ornitina) — ORPHA:289869 — 8 sintomas em comum
- [Neuropatia óptica autossômica dominante](https://raras.org/doenca/neuropatia-optica-autossomica-dominante) — ORPHA:98672 — 8 sintomas em comum
- [Ataxia cerebelar sindrômica autossômica recessiva](https://raras.org/doenca/ataxia-cerebelar-sindromica-autossomica-recessiva) — ORPHA:98099 — 8 sintomas em comum
- [Charcot-Marie-Tooth ligada ao X](https://raras.org/doenca/charcot-marie-tooth-ligada-ao-x) — ORPHA:64747 — 8 sintomas em comum
- [Síndrome de atrofia óptica plus autossômica dominante](https://raras.org/doenca/sindrome-de-atrofia-optica-plus-autossomica-dominante) — ORPHA:1215 — 7 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 7 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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