# Retinite pigmentosa

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

## Identificadores

- **ORPHA**: 791 — https://www.orpha.net/en/disease/detail/791
- **CID-10**: H35.5
- **OMIM**: OMIM:268000 — https://omim.org/entry/268000

## Descrição clínica

A retinite pigmentosa (RP) é uma distrofia hereditária da retina que induz uma perda progressiva de fotorrecetores e do epitélio pigmentar da retina resultando em cegueira após décadas de evolução da doença.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive

## Sinais e sintomas (144 fenótipos HPO)

- **Drusas do disco óptico** — HPO: HP:0012426 (Frequente (79-30%))
- **Acuidade visual moderadamente reduzida** — HPO: HP:0030515
- **Autismo** — HPO: HP:0000717
- **Pseudofacia** — HPO: HP:0500081
- **Acuidade visual levemente reduzida** — HPO: HP:0032037
- **Hemiplegia direita** — HPO: HP:0040293
- **HP:0001419** — HPO: HP:0001419
- **Herança autossômica dominante** — HPO: HP:0000006
- **Herança autossômica recessiva** — HPO: HP:0000007
- **Hiperpigmentação macular** — HPO: HP:0011509
- **Metamorfopsia** — HPO: HP:0012508
- **Escotoma paracentral** — HPO: HP:0030528
- **Escotoma pericentral** — HPO: HP:0007761
- **Anormalidade do rim** — HPO: HP:0000077
- **Defeitos progressivos do campo visual** — HPO: HP:0007987
- **Ambliopia** — HPO: HP:0000646
- **Atrofia da íris** — HPO: HP:0001089
- **Cegueira noturna de início na idade adulta** — HPO: HP:0007830
- **Cílios imóveis** — HPO: HP:0012263
- **Alta miopia** — HPO: HP:0011003
- **Infecções respiratórias recorrentes** — HPO: HP:0002205
- **Escoliose** — HPO: HP:0002650
- **Catarata cortical** — HPO: HP:0100019
- **Eletrorretinograma anormal adaptado ao claro e ao escuro** — HPO: HP:0008323
- **Astigmatismo misto** — HPO: HP:0031790
- **Palidez** — HPO: HP:0000980
- **Pigmentação numular do fundo de olho** — HPO: HP:0030505
- **Lesão retiniana hiperautofluorescente** — HPO: HP:0025158
- **Estrabismo** — HPO: HP:0000486
- **Manchas retinianas** — HPO: HP:0012045
- **Hipermetropia** — HPO: HP:0000540
- **Perda da camada fotorreceptora na OCT macular** — HPO: HP:0030609
- **Atrofia corioretiniana peripapilar** — HPO: HP:0007950
- **Hipoautofluorescência perifoveal** — HPO: HP:0034272
- **Catarata polar posterior** — HPO: HP:0001115
- **Morfologia renal anormal** — HPO: HP:0012210
- **Edema macular** — HPO: HP:0040049
- **Escotoma central** — HPO: HP:0000603
- **Cristais maculares** — HPO: HP:0030501
- **Constrição arteriolar retiniana** — HPO: HP:0008043
- _...e mais 104 sintomas. Ver https://raras.org/doenca/retinite-pigmentosa._

## Genes associados (92)

- **AHI1** — Jouberin [Disease-causing germline mutation(s) in]
  - Função: Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like comp
- **AIPL1** — Aryl-hydrocarbon-interacting protein-like 1 [MENDELIAN]
  - Função: May be important in protein trafficking and/or protein folding and stabilization
- **HK1** — Hexokinase-1 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the phosphorylation of various hexoses, such as D-glucose, D-glucosamine, D-fructose, D-mannose and 2-deoxy-D-glucose, to hexose 6-phosphate (D-glucose 6-phosphate, D-glucosamine 6-phosphate
- **HKDC1** — Hexokinase HKDC1 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the phosphorylation of hexose to hexose 6-phosphate, although at very low level compared to other hexokinases (PubMed:30517626). Has low glucose phosphorylating activity compared to other he
- **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
- **CRX** — Cone-rod homeobox protein [Disease-causing germline mutation(s) in]
  - Função: Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with ot
- **KLHL7** — Kelch-like protein 7 [Disease-causing germline mutation(s) in]
  - Função: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably medi
- **PRPF31** — U4/U6 small nuclear ribonucleoprotein Prp31 [Disease-causing germline mutation(s) in]
  - Função: Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11867543, PubMed:20118938, PubMed:28781166). Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building bloc
- **ARL3** — ADP-ribosylation factor-like protein 3 [Disease-causing germline mutation(s) in]
  - Função: Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activati
- **TOPORS** — E3 ubiquitin-protein ligase Topors [Disease-causing germline mutation(s) in]
  - Função: Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability thr
- **TULP1** — Tubby-related protein 1 [Disease-causing germline mutation(s) in]
  - Função: Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may pl
- **RP1** — Microtubule-associated protein RP/EB family member 2 [Disease-causing germline mutation(s) in]
  - Função: Adapter protein that is involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. Therefore, ensures mitotic progression and genome st
- **IDH3A** — Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial [Candidate gene tested in]
  - Função: Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the hetero
- **PDE6G** — Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma [Disease-causing germline mutation(s) in]
  - Função: Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones
- **SPATA7** — Spermatogenesis-associated protein 7 [Disease-causing germline mutation(s) in]
  - Função: Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as

## Medicamentos em desenvolvimento (7)

- VALPROIC ACID — Fase Phase 2 (Succinate semialdehyde dehydrogenase inhibitor)
- CARBIDOPA ANHYDROUS — Fase Phase 2 (DOPA decarboxylase inhibitor)
- METHOTREXATE — Fase Phase 2 (Dihydrofolate reductase inhibitor)
- LEVODOPA — Fase Phase 2 (Dopamine D3 receptor agonist)
- CARBIDOPA — Fase Phase 2 (DOPA decarboxylase inhibitor)
- HYDROXYCHLOROQUINE — Fase Phase 1 (Toll-like receptor 7 antagonist)
- BRIMONIDINE — Fase Phase 1 (Adrenergic receptor alpha-2 agonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0019200

## Ensaios clínicos ativos (40)

- **NCT01432847** [RECRUITING]: Cell Collection to Study Eye Diseases — https://clinicaltrials.gov/study/NCT01432847
- **NCT02617966** [RECRUITING]: Rod and Cone Mediated Function in Retinal Disease — https://clinicaltrials.gov/study/NCT02617966
- **NCT06891885** [RECRUITING]: A Study to Investigate the Safety of DSP-3077 After a Unilateral Eye Injection in Male and Female Participants 18 Years of Age or Older With Retinitis Pigmentosa — https://clinicaltrials.gov/study/NCT06891885
- **NCT05589714** [RECRUITING]: Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants — https://clinicaltrials.gov/study/NCT05589714
- **NCT06789445** [RECRUITING]: A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO) — https://clinicaltrials.gov/study/NCT06789445
- **NCT06912633** [RECRUITING]: Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP) — https://clinicaltrials.gov/study/NCT06912633
- **NCT07266584** [RECRUITING]: Restoration of Central Vision With PRIMA in Patients With Photoreceptor Degeneration — https://clinicaltrials.gov/study/NCT07266584
- **NCT07502664** [RECRUITING]: Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD) — https://clinicaltrials.gov/study/NCT07502664
- **NCT06292650** [RECRUITING]: Safety and Efficacy Study of Novel Gene Therapy ZM-02 for Retinitis Pigmentosa Patients — https://clinicaltrials.gov/study/NCT06292650
- **NCT06627179** [RECRUITING]: Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene — https://clinicaltrials.gov/study/NCT06627179

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- [Síndrome Usher](https://raras.org/doenca/sindrome-usher) — ORPHA:886 — 29 sintomas em comum
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- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 28 sintomas em comum
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- [Síndrome White-Sutton](https://raras.org/doenca/sindrome-white-sutton) — ORPHA:468678 — 26 sintomas em comum
- [Síndrome Alström](https://raras.org/doenca/sindrome-alstrom) — ORPHA:64 — 26 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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