# Neuropatia óptica hereditária de Leber

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

## Identificadores

- **ORPHA**: 104 — https://www.orpha.net/en/disease/detail/104
- **CID-10**: H47.2
- **OMIM**: OMIM:535000 — https://omim.org/entry/535000

## Descrição clínica

A neuropatia óptica hereditária de Leber (LHON) é uma doença mitocondrial neurodegenerativa que afeta o nervo óptico e muitas vezes caracterizada por perda de visão súbita nos portadores adultos jovens.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Mitochondrial inheritance

## Sinais e sintomas (41 fenótipos HPO)

- **Espasticidade** — HPO: HP:0001257
- **Atraso no desenvolvimento cognitivo** — HPO: HP:0003829
- **HP:0001427** — HPO: HP:0001427
- **Perda visual progressiva** — HPO: HP:0000529 (Frequente (79-30%))
- **Tremor postural** — HPO: HP:0002174 (Ocasional (29-5%))
- **Telangiectasia retiniana** — HPO: HP:0007763 (Frequente (79-30%))
- **Tortuosidade vascular retiniana** — HPO: HP:0012841 (Frequente (79-30%))
- **Eletroretinograma anormal** — HPO: HP:0000512 (Ocasional (29-5%))
- **Edema da camada de fibras nervosas da retina** — HPO: HP:0020120 (Ocasional (29-5%))
- **Anormalidade dos potenciais visuais evocados** — HPO: HP:0000649 (Ocasional (29-5%))
- **Arritmia** — HPO: HP:0011675 (Ocasional (29-5%))
- **Ataxia** — HPO: HP:0001251 (Ocasional (29-5%))
- **Atrofia óptica** — HPO: HP:0000648 (Frequente (79-30%))
- **Diminuição lenta da acuidade visual** — HPO: HP:0007924 (Muito frequente (99-80%))
- **Sensibilidade reduzida ao contraste** — HPO: HP:0032036 (Ocasional (29-5%))
- **Pré-excitação ventricular** — HPO: HP:0004309 (Ocasional (29-5%))
- **Neuropatia periférica** — HPO: HP:0009830 (Ocasional (29-5%))
- **Visão turva** — HPO: HP:0000622 (Frequente (79-30%))
- **Defeitos da cadeia respiratória mitocondrial** — HPO: HP:0200125 (Muito frequente (99-80%))
- **Defeito da visão de cores** — HPO: HP:0000551 (Ocasional (29-5%))
- **Escotoma centrocecal** — HPO: HP:0000576 (Frequente (79-30%))
- **Miopatia** — HPO: HP:0003198 (Ocasional (29-5%))
- **Escotoma central** — HPO: HP:0000603 (Frequente (79-30%))
- **Disartria** — HPO: HP:0001260
- **Disfunção do neurônio motor superior** — HPO: HP:0002493
- **Aumento de lactato no LCR** — HPO: HP:0002490
- **Deficiência intelectual** — HPO: HP:0001249
- **Atrofia óptica de Leber** — HPO: HP:0001112
- **Perda visual** — HPO: HP:0000572
- **Polineuropatia** — HPO: HP:0001271
- **Tortuosidade vascular dos vasos retinianos centrais** — HPO: HP:0007768
- **Distonia** — HPO: HP:0001332
- **Neuropatia óptica** — HPO: HP:0001138 (Frequente (79-30%))
- **Disfagia** — HPO: HP:0002015
- **Bradicinesia** — HPO: HP:0002067
- **Anormalidade do movimento ocular** — HPO: HP:0000496
- **Aumento da concentração circulante de lactato** — HPO: HP:0002151
- **Demência** — HPO: HP:0000726
- **Atetose** — HPO: HP:0002305
- **Atrofia do músculo esquelético** — HPO: HP:0003202
- _...e mais 1 sintomas. Ver https://raras.org/doenca/neuropatia-optica-hereditaria-de-leber._

## Genes associados (12)

- **MT-CYB** — Cytochrome b [Disease-causing germline mutation(s) in]
  - Função: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from
- **MT-ATP6** — ATP synthase F(0) complex subunit a [Disease-causing germline mutation(s) in]
  - Função: Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generate
- **MT-CO3** — Cytochrome c oxidase subunit 3 [Disease-causing germline mutation(s) in]
  - Função: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes suc
- **DNAJC30** — DnaJ homolog subfamily C member 30, mitochondrial [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis (By similarity).
- **MT-ND2** — NADH-ubiquinone oxidoreductase chain 2 [Disease-causing germline mutation(s) in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-ND6** — NADH-ubiquinone oxidoreductase chain 6 [Disease-causing germline mutation(s) in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-ND5** — NADH-ubiquinone oxidoreductase chain 5 [Disease-causing germline mutation(s) in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-CO1** — Cytochrome c oxidase subunit 1 [Candidate gene tested in]
  - Função: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes suc
- **NDUFS2** — NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-ND4** — NADH-ubiquinone oxidoreductase chain 4 [Disease-causing germline mutation(s) in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-ND4L** — NADH-ubiquinone oxidoreductase chain 4L [Disease-causing germline mutation(s) in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-ND1** — NADH-ubiquinone oxidoreductase chain 1 [Disease-causing germline mutation(s) in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a

## Medicamentos em desenvolvimento (1)

- CYCLOSPORINE — Fase Phase 2 (Cyclophilin A modulator)
- Fonte: https://platform.opentargets.org/disease/MONDO_0010788

## Ensaios clínicos ativos (9)

- **NCT07303296** [RECRUITING]: Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON Patients — https://clinicaltrials.gov/study/NCT07303296
- **NCT06792500** [RECRUITING]: A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus) — https://clinicaltrials.gov/study/NCT06792500
- **NCT03475173** [RECRUITING]: New Non-invasive Modalities for Assessing Retinal Structure and Function — https://clinicaltrials.gov/study/NCT03475173
- **NCT06682819** [RECRUITING]: Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT) — https://clinicaltrials.gov/study/NCT06682819
- **NCT03011541** [RECRUITING]: Stem Cell Ophthalmology Treatment Study II — https://clinicaltrials.gov/study/NCT03011541
- **NCT04912843** [RECRUITING]: Gene Therapy Clinical Trial for the Treatment Of Leber's HereDitary Optic Neuropathy — https://clinicaltrials.gov/study/NCT04912843
- **NCT07406854** [ACTIVE_NOT_RECRUITING]: A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation — https://clinicaltrials.gov/study/NCT07406854
- **NCT05293626** [ACTIVE_NOT_RECRUITING]: Gene Therapy Clinical Trial for the Treatment of Leber's Hereditary Optic Neuropathy Associated With ND4 Mutations — https://clinicaltrials.gov/study/NCT05293626
- **NCT07258667** [NOT_YET_RECRUITING]: Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber's Hereditary Optic Neuropathy — https://clinicaltrials.gov/study/NCT07258667
- **NCT03293524** [COMPLETED]: Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year — https://clinicaltrials.gov/study/NCT03293524

## Doenças relacionadas (por similaridade fenotípica)

- [Neuropatia óptica autossômica dominante](https://raras.org/doenca/neuropatia-optica-autossomica-dominante) — ORPHA:98672 — 21 sintomas em comum
- [Doença de Leber 'plus'](https://raras.org/doenca/doenca-de-leber-plus) — ORPHA:99718 — 18 sintomas em comum
- [Síndrome de atrofia óptica plus autossômica dominante](https://raras.org/doenca/sindrome-de-atrofia-optica-plus-autossomica-dominante) — ORPHA:1215 — 16 sintomas em comum
- [Deficiência de coenzima Q10](https://raras.org/doenca/deficiencia-de-coenzima-q10) — ORPHA:35656 — 14 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 14 sintomas em comum
- [Leucodistrofia hipomielinizante com ou sem oligodontia e/ou hipogonadismo](https://raras.org/doenca/leucodistrofia-hipomielinizante-com-ou-sem-oligodontia-eou-hipogonadismo) — ORPHA:289494 — 13 sintomas em comum
- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 13 sintomas em comum
- [Síndrome Mohr-Tranebjaerg](https://raras.org/doenca/sindrome-mohr-tranebjaerg) — ORPHA:52368 — 12 sintomas em comum
- [doença da síntese de ácidos biliares](https://raras.org/doenca/doenca-da-sintese-de-acidos-biliares) — ORPHA:79168 — 12 sintomas em comum
- [Lipofuscinose ceroide neuronal](https://raras.org/doenca/lipofuscinose-ceroide-neuronal) — ORPHA:216 — 12 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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