# Neuropatia óptica hereditária > Página oficial: https://raras.org/doenca/neuropatia-optica-hereditaria > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 98671 — https://www.orpha.net/en/disease/detail/98671 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica Doença rara caracterizada por perda visual progressiva (escotoma), ptose bilateral e fraqueza muscular. Pode apresentar miopatia mitocondrial, neuropatia axonal motora e sensorial, com alterações na transmissão neuromuscular e na retina. Associada a mutações em genes como FERMT3 e genes mitocondriais. ## Epidemiologia e herança ## Sinais e sintomas (359 fenótipos HPO) - **Escotoma** — HPO: HP:0000575 - **Ptose bilateral** — HPO: HP:0001488 - **EMG: sinais de desnervação crônica** — HPO: HP:0003444 - **Miopatia mitocondrial** — HPO: HP:0003737 - **Fraqueza muscular da cintura escapular/pélvica** — HPO: HP:0003325 - **Neuropatia axonal motora** — HPO: HP:0007002 - **Cardiomiopatia** — HPO: HP:0001638 - **Neuropatia sensorial** — HPO: HP:0000763 - **EMG: transmissão neuromuscular prejudicada** — HPO: HP:0100285 - **Morfologia anormal da camada de fibras nervosas da retina** — HPO: HP:0020119 - **Respostas auditivas do tronco cerebral ausentes** — HPO: HP:0004463 - **Edema da camada de fibras nervosas da retina** — HPO: HP:0020120 - **Telangiectasia retiniana** — HPO: HP:0007763 - **Suscetibilidade a hematomas** — HPO: HP:0000978 - **Morfologia metafisária anormal** — HPO: HP:0000944 - **Morfologia anormal da costela** — HPO: HP:0000772 - **Tórax estreito** — HPO: HP:0000774 - **Opsoclonia** — HPO: HP:0010543 - **Catarata cortical anterior** — HPO: HP:0007795 - **Reflexo aquileu ausente** — HPO: HP:0003438 - **Catarata cortical posterior** — HPO: HP:0010924 - **Disfunção somatossensorial** — HPO: HP:0003474 - **Parestesia** — HPO: HP:0003401 - **Espasmo muscular** — HPO: HP:0003394 - **Movimento limitado do punho** — HPO: HP:0006248 - **Nefrolitíase** — HPO: HP:0000787 - **Atrofia óptica por compressão de nervo craniano** — HPO: HP:0007958 - **Morfologia dentária anormal** — HPO: HP:0006482 - **Disproporção craniofacial** — HPO: HP:0005461 - **Eliptocitose** — HPO: HP:0004445 - **Calvária espessada** — HPO: HP:0002684 - **Plagiocefalia** — HPO: HP:0001357 - **Dificuldade específica de aprendizagem** — HPO: HP:0001328 - **Macrotia** — HPO: HP:0000400 - **Acidose tubular renal proximal** — HPO: HP:0002049 - **Formato facial anormal** — HPO: HP:0001999 - **Infecção crônica** — HPO: HP:0031035 - **Aumento da suscetibilidade a fraturas** — HPO: HP:0002659 - **Neuropatia por aprisionamento** — HPO: HP:0012181 - **Hipocelularidade da medula óssea** — HPO: HP:0005528 - _...e mais 319 sintomas. Ver https://raras.org/doenca/neuropatia-optica-hereditaria._ ## Genes associados (29) - **FERMT3** — Fermitin family homolog 3 [Disease-causing germline mutation(s) in] - Função: Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integri - **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 - **MT-ND5** — NADH-ubiquinone oxidoreductase chain 5 [Candidate gene tested 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-CO3** — Cytochrome c oxidase subunit 3 [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 - **MT-ND4L** — NADH-ubiquinone oxidoreductase chain 4L [Candidate gene tested 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-ATP6** — ATP synthase F(0) complex subunit a [Candidate gene tested 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-CYB** — Cytochrome b [Candidate gene tested 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 - **DNAJC30** — DnaJ homolog subfamily C member 30, mitochondrial [Candidate gene tested 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-ND6** — NADH-ubiquinone oxidoreductase chain 6 [Candidate gene tested 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 - **NDUFS2** — NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial [Candidate gene tested 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 [Candidate gene tested 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 [Candidate gene tested 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-ND2** — NADH-ubiquinone oxidoreductase chain 2 [Candidate gene tested 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 - **SLC4A2** — Anion exchange protein 2 [Disease-causing germline mutation(s) in] - Função: Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane (PubMed:15184086, PubMed:34668226). Plays an important role in o - **PLEKHM1** — Pleckstrin homology domain-containing family M member 1 [Disease-causing germline mutation(s) in] - Função: Acts as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. ## Medicamentos em desenvolvimento (1) - CYCLOSPORINE — Fase Phase 2 (Cyclophilin A modulator) - Fonte: https://platform.opentargets.org/disease/MONDO_0020249 ## Ensaios clínicos ativos (10) - **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 - **NCT07336966** [NOT_YET_RECRUITING]: Does Recessive Optic Atrophy Due to WFS1 Exist? — https://clinicaltrials.gov/study/NCT07336966 - **NCT07258667** [NOT_YET_RECRUITING]: Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber's Hereditary Optic Neuropathy — https://clinicaltrials.gov/study/NCT07258667 ## Doenças relacionadas (por similaridade fenotípica) - [Neuropatia óptica autossômica dominante](https://raras.org/doenca/neuropatia-optica-autossomica-dominante) — ORPHA:98672 — 129 sintomas em comum - [Síndrome de atrofia óptica plus autossômica dominante](https://raras.org/doenca/sindrome-de-atrofia-optica-plus-autossomica-dominante) — ORPHA:1215 — 80 sintomas em comum - [Osteopetrose com acidose tubular renal](https://raras.org/doenca/osteopetrose-com-acidose-tubular-renal) — ORPHA:2785 — 69 sintomas em comum - [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 61 sintomas em comum - [Anemia sideroblástica](https://raras.org/doenca/anemia-sideroblastica) — ORPHA:1047 — 60 sintomas em comum - [Doença do metabolismo da ornitina](https://raras.org/doenca/doenca-do-metabolismo-da-ornitina) — ORPHA:289869 — 58 sintomas em comum - [Deficiência de complexo III isolada](https://raras.org/doenca/deficiencia-de-complexo-iii-isolada) — ORPHA:1460 — 58 sintomas em comum - [Duplicação/triplicação parcial do cromossomo 5](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-cromossomo-5) — ORPHA:262211 — 57 sintomas em comum - [Doença do metabolismo do folato](https://raras.org/doenca/doenca-do-metabolismo-do-folato) — ORPHA:285657 — 57 sintomas em comum - [Deficiência de coenzima Q10](https://raras.org/doenca/deficiencia-de-coenzima-q10) — ORPHA:35656 — 56 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. --- **Citação sugerida**: Raras.org — Neuropatia óptica hereditária. Disponível em: https://raras.org/doenca/neuropatia-optica-hereditaria **Formato HTML**: https://raras.org/doenca/neuropatia-optica-hereditaria **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=98671