# Distrofia dos cones e bastonetes

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

## Identificadores

- **ORPHA**: 1872 — https://www.orpha.net/en/disease/detail/1872
- **CID-10**: H35.5
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Problemas de visão genéticos que afetam a retina e são classificados como retinopatias pigmentares.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, X-linked recessive

## Sinais e sintomas (83 fenótipos HPO)

- **Hipermetropia** — HPO: HP:0000540
- **Fixação visual excêntrica** — HPO: HP:0025549
- **Distrofia corneana** — HPO: HP:0001131
- **Espessura foveal reduzida medida por OCT** — HPO: HP:0030619
- **Diminuição lenta da acuidade visual** — HPO: HP:0007924
- **Hiperpigmentação macular** — HPO: HP:0011509
- **Constrição arteriolar retiniana** — HPO: HP:0008043
- **Morfologia anormal do nervo óptico** — HPO: HP:0000587
- **Palidez** — HPO: HP:0000980
- **Cegueira** — HPO: HP:0000618
- **Escotoma pericentral** — HPO: HP:0007761
- **Distrofia de cones** — HPO: HP:0008020
- **Edema macular cistoide** — HPO: HP:0011505
- **Acuidade visual severamente reduzida** — HPO: HP:0001141
- **Catarata subcapsular posterior** — HPO: HP:0007787
- **Anormalidade da pigmentação do fundo de olho** — HPO: HP:0031605
- **Hipogonadismo** — HPO: HP:0000135
- **Deficiência intelectual** — HPO: HP:0001249
- **Deficiência auditiva** — HPO: HP:0000365
- **Manchas retinianas** — HPO: HP:0012045
- **Hiperpigmentação foveal** — HPO: HP:0008001
- **Atrofia foveal** — HPO: HP:0025010
- **Hemeralopia** — HPO: HP:0012047
- **Atrofia corioretiniana** — HPO: HP:0000533
- **Anormalidade da orelha** — HPO: HP:0000598
- **Cegueira noturna progressiva** — HPO: HP:0007675
- **Lesão retiniana hipoautofluorescente** — HPO: HP:0025159
- **Constrição do campo visual periférico** — HPO: HP:0001133
- **Tritanomalia** — HPO: HP:0000552
- **Lesão macular hiperautofluorescente** — HPO: HP:0030631
- **Alta miopia** — HPO: HP:0011003
- **Eletrorretinograma de padrão indetectável** — HPO: HP:0030844
- **Anel perifoveal de hiperautofluorescência** — HPO: HP:0030629
- **Maculopatia em olho de boi** — HPO: HP:0011504
- **Eletrorretinograma eletronegativo** — HPO: HP:0007984
- **Ceratocone** — HPO: HP:0000563
- **Drusas maculares** — HPO: HP:0030499
- **Retinopatia pigmentar** — HPO: HP:0000580
- **Descolamento de retina** — HPO: HP:0000541
- **Astigmatismo** — HPO: HP:0000483
- _...e mais 43 sintomas. Ver https://raras.org/doenca/distrofia-dos-cones-e-bastonetes._

## Genes associados (33)

- **TLCD3B** — Ceramide synthase [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Involved in ceramide synthesis
- **RLBP1** — Retinaldehyde-binding protein 1 [Disease-causing germline mutation(s) in]
  - Função: Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-tra
- **RAB28** — Ras-related protein Rab-28 [Disease-causing germline mutation(s) in]
  - Função: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:8647132). Rabs cycle between an inactive
- **PRPH2** — Peripherin-2 [Disease-causing germline mutation(s) in]
  - Função: Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of
- **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
- **SEMA4A** — Semaphorin-4A [Disease-causing germline mutation(s) in]
  - Função: Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling (By similarity). Regulates glutamatergic and GABAergic synapse development (By similarit
- **UNC119** — Protein unc-119 homolog A [Disease-causing germline mutation(s) in]
  - Função: Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein tra
- **GUCA1A** — Guanylyl cyclase-activating protein 1 [Disease-causing germline mutation(s) in]
  - Função: Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:18706439, PubMed:19459154, PubMed
- **UBAP1L** — Ubiquitin-associated protein 1-like [Disease-causing germline mutation(s) in]
- **AIPL1** — Aryl-hydrocarbon-interacting protein-like 1 [Candidate gene tested in]
  - Função: May be important in protein trafficking and/or protein folding and stabilization
- **RPGRIP1** — X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 [Disease-causing germline mutation(s) in]
  - Função: May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer seg
- **OPN1MW** — Medium-wave-sensitive opsin 1 [Disease-causing germline mutation(s) in]
  - Função: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal
- **CFAP418** — Cilia- and flagella-associated protein 418 [Disease-causing germline mutation(s) in]
  - Função: May be involved in photoreceptor outer segment disk morphogenesis (By similarity)
- **PROM1** — Prominin-1 [Disease-causing germline mutation(s) in]
  - Função: May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization
- **CACNA1F** — Voltage-dependent L-type calcium channel subunit alpha-1F [Disease-causing germline mutation(s) in]
  - Função: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormon

## Ensaios clínicos ativos (7)

- **NCT06789445** [RECRUITING]: A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO) — https://clinicaltrials.gov/study/NCT06789445
- **NCT06445322** [RECRUITING]: Prescreening Study to Identify Potential Stargardt Participants for ACDN-01 Clinical Trials (STARPATH) — https://clinicaltrials.gov/study/NCT06445322
- **NCT06467344** [RECRUITING]: Study to Evaluate ACDN-01 in ABCA4-related Stargardt Retinopathy (STELLAR) — https://clinicaltrials.gov/study/NCT06467344
- **NCT05355415** [RECRUITING]: Adaptive Optics Imaging of Outer Retinal Diseases — https://clinicaltrials.gov/study/NCT05355415
- **NCT02435940** [RECRUITING]: Inherited Retinal Degenerative Disease Registry — https://clinicaltrials.gov/study/NCT02435940
- **NCT01773278** [RECRUITING]: Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) — https://clinicaltrials.gov/study/NCT01773278
- **NCT07341763** [NOT_YET_RECRUITING]: Brain Stimulation Effects on Orientation and Mobility Skills in Adults With Vision Impairment — https://clinicaltrials.gov/study/NCT07341763
- **NCT04658251** [UNKNOWN]: Study of New Mutations in Cone Disorders — https://clinicaltrials.gov/study/NCT04658251
- **NCT02670980** [COMPLETED]: Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy — https://clinicaltrials.gov/study/NCT02670980
- **NCT01864486** [COMPLETED]: Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy — https://clinicaltrials.gov/study/NCT01864486

## Doenças relacionadas (por similaridade fenotípica)

- [Retinite pigmentosa](https://raras.org/doenca/retinite-pigmentosa) — ORPHA:791 — 59 sintomas em comum
- [Amaurose congênita de Leber](https://raras.org/doenca/amaurose-congenita-de-leber) — ORPHA:65 — 42 sintomas em comum
- [Ciliopatia retiniana](https://raras.org/doenca/ciliopatia-retiniana) — ORPHA:156165 — 30 sintomas em comum
- [Doença da visão cromática](https://raras.org/doenca/doenca-da-visao-cromatica) — ORPHA:98658 — 30 sintomas em comum
- [Acromatopsia](https://raras.org/doenca/acromatopsia) — ORPHA:49382 — 29 sintomas em comum
- [Síndrome Usher](https://raras.org/doenca/sindrome-usher) — ORPHA:886 — 26 sintomas em comum
- [Cegueira noturna estacionária congênita](https://raras.org/doenca/cegueira-noturna-estacionaria-congenita) — ORPHA:215 — 23 sintomas em comum
- [Doença de Stargardt](https://raras.org/doenca/doenca-de-stargardt) — ORPHA:827 — 23 sintomas em comum
- [Distrofia dos cones progressiva](https://raras.org/doenca/distrofia-dos-cones-progressiva) — ORPHA:1871 — 20 sintomas em comum
- [Neuropatia óptica autossômica dominante](https://raras.org/doenca/neuropatia-optica-autossomica-dominante) — ORPHA:98672 — 20 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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