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🇫🇷 Fiche Orphanet officielle

Rétinite pigmentaire

ORPHA:791PathologieCIM-10 : H35.5CIM-11 : 9B70OMIM : 153870

Définition clinique

La rétinite pigmentaire est une dystrophie rétinienne héréditaire conduisant à une perte progressive des photorécepteurs et de l'épithélium pigmentaire rétinien, et résultant habituellement en une cécité après plusieurs décennies.

🩺 Symptômes & manifestations cliniques

31 phénotypes HPO annotés Orphanet

🔴 Très fréquent (99-80%) — 13

  • Conductive hearing impairment
  • Sensorineural hearing impairment
  • Visual impairment
  • Abnormal electroretinogram
  • Retinal degeneration
  • Photophobia
  • Blindness
  • Nystagmus
  • Optic atrophy
  • Progressive night blindness
  • Abnormality of retinal pigmentation
  • Bone spicule pigmentation of the retina
  • Abnormal retinal vascular morphology

🟠 Fréquent (79-30%) — 15

  • Glaucoma
  • Optic disc pallor
  • Keratoconus
  • Ophthalmoplegia
  • Nyctalopia
  • Hyperinsulinemia
  • Retinal atrophy
  • Posterior subcapsular cataract
  • Attenuation of retinal blood vessels
  • Peripheral visual field loss
  • Cystoid macular edema
  • Optic disc drusen
  • Abnormal full-field electroretinogram
  • Abnormal central response of multifocal electroretinogram
  • Photoreceptor outer segment loss on macular OCT
🟡 Occasionnel / autres (3) ↓
  • Color vision defect(Occasionel (29-5%))
  • Reduced visual acuity(Occasionel (29-5%))
  • Photopsia(Occasionel (29-5%))

🔀 Diagnostic différentiel

Maladies rares qui partagent le plus de phénotypes discriminants avec Rétinite pigmentaire. Calcul automatique sur les annotations HPO/Orphanet — à confronter au tableau clinique réel.

📚 Publications récentes (2 dernières années)

1 référence PubMed — guidelines, revues, méta-analyses et case reports avec « Rétinite pigmentaire » dans le titre/abstract.

🔬 Examens & investigations

📋 PNDS — recommandations officielles françaises

Le Protocole National de Diagnostic et Soins est le référentiel HAS pour la prise en charge d'une maladie rare en France. Environ 300 maladies en disposent (plus rare que la maladie elle-même → plus de chances qu'il n'existe pas).

🏥 Centres experts

Liste Orphanet officielle des centres experts pour cette maladie spécifique (CRMR / CCMR) — coordonnées et coordinateurs.

📍 Trouver un spécialiste près de chez vous

Entrez votre ville ou code postal pour filtrer l'annuaire MonRhumato et localiser les centres experts les plus proches.

🔍 Annuaire MonRhumato →🗺️ Google Maps ↗

🧬 Gènes associés & variants

  • HKDC110q22.1

    ClinVar : 235 variants196 VUS

    Disease-causing germline mutation(s) inAssessed

  • CA417q23.1

    Candidate gene tested inNot yet assessed

  • FSD1L9q31.2

    Disease-causing germline mutation(s) inAssessed

  • SAXO612q15

    Disease-causing germline mutation(s) inAssessed

  • RNU6-115q23

    Disease-causing germline mutation(s) inAssessed

  • RNU6-219p13.3

    Disease-causing germline mutation(s) inAssessed

  • RNU6-814q12

    Disease-causing germline mutation(s) inAssessed

  • RNU6-919p13.3

    Disease-causing germline mutation(s) inAssessed

  • CFAP2016q21

    Disease-causing germline mutation(s) inAssessed

  • ABCA41p22.1

    Disease-causing germline mutation(s) inAssessed

  • POMGNT11p34.1

    Disease-causing germline mutation(s) inAssessed

  • PRCD17q25.1

    Disease-causing germline mutation(s) inAssessed

  • PRPF31q21.2

    Disease-causing germline mutation(s) inAssessed

  • PRPF3119q13.42

    Disease-causing germline mutation(s) inAssessed

  • PRPF817p13.3

    Disease-causing germline mutation(s) inAssessed

  • PRPH26p21.1

    Disease-causing germline mutation(s) inAssessed

  • RDH1214q24.1

    Disease-causing germline mutation(s) inAssessed

  • RGR10q23.1

    Disease-causing germline mutation(s) inAssessed

  • RHO3q22.1

    Disease-causing germline mutation(s) inAssessed

  • RLBP115q26.1

    Disease-causing germline mutation(s) inAssessed

  • ROM111q12.3

    Disease-causing germline mutation(s) inAssessed

  • RP18q11.23-q12.1

    Disease-causing germline mutation(s) inAssessed

  • RP2Xp11.3

    Disease-causing germline mutation(s) inAssessed

  • RP97p14.3

    Disease-causing germline mutation(s) inAssessed

  • RPE651p31.3

    Disease-causing germline mutation(s) inAssessed

  • RPGRXp11.4

    Disease-causing germline mutation(s) inAssessed

  • SAG2q37.1

    Disease-causing germline mutation(s) inAssessed

  • BBS111q13.2

    Disease-causing germline mutation(s) inAssessed

  • BBS216q13

    Disease-causing germline mutation(s) inAssessed

  • BEST111q12.3

    Disease-causing germline mutation(s) inAssessed

  • RNU4-212q24.31

    Disease-causing germline mutation(s) inAssessed

  • CERKL2q31.3

    Disease-causing germline mutation(s) inAssessed

  • AHI16q23.3

    Disease-causing germline mutation(s) inAssessed

  • TTC814q31.3

    Disease-causing germline mutation(s) inAssessed

  • TULP16p21.31

    Disease-causing germline mutation(s) inAssessed

  • USH2A1q41

    Disease-causing germline mutation(s) inAssessed

  • CLRN13q25.1

    Disease-causing germline mutation(s) inAssessed

  • CNGA14p12

    Disease-causing germline mutation(s) inAssessed

  • CRB11q31.3

    Disease-causing germline mutation(s) inAssessed

  • CRX19q13.33

    Disease-causing germline mutation(s) inAssessed

  • ARL63q11.2

    Disease-causing germline mutation(s) inAssessed

  • FSCN217q25.3

    Disease-causing germline mutation(s) inAssessed

  • HGSNAT8p11.21-p11.1

    Disease-causing germline mutation(s) inAssessed

  • IMPDH17q32.1

    Disease-causing germline mutation(s) inAssessed

  • MERTK2q13

    Disease-causing germline mutation(s) inAssessed

  • NR2E315q23

    Disease-causing germline mutation(s) inAssessed

  • NRL14q11.2-q12

    Disease-causing germline mutation(s) inAssessed

  • OFD1Xp22.2

    Disease-causing germline mutation(s) inAssessed

  • PDE6A5q32

    Disease-causing germline mutation(s) inAssessed

  • PDE6B4p16.3

    Disease-causing germline mutation(s) inAssessed

  • SEMA4A1q22

    Disease-causing germline mutation(s) inAssessed

  • CNGB116q21

    Disease-causing germline mutation(s) inAssessed

  • TOPORS9p21.1

    Disease-causing germline mutation(s) inAssessed

  • CC2D2A4p15.32

    Disease-causing germline mutation(s) inAssessed

  • PROM14p15.32

    Disease-causing germline mutation(s) inAssessed

  • LRAT4q32.1

    Disease-causing germline mutation(s) inAssessed

  • EYS6q12

    Disease-causing germline mutation(s) inAssessed

  • IDH3B20p13

    Disease-causing germline mutation(s) inAssessed

  • SPATA714q31.3

    Disease-causing germline mutation(s) inAssessed

  • GUCA1B6p21.1

    Disease-causing germline mutation(s) inAssessed

  • KLHL77p15.3

    Disease-causing germline mutation(s) inAssessed

  • TMEM21611q13.1

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • SNRNP2002q11.2

    Disease-causing germline mutation(s) inAssessed

  • PCARE2p23.2

    Disease-causing germline mutation(s) inAssessed

  • PDE6G17q25.3

    Disease-causing germline mutation(s) inAssessed

  • IMPG23q12.3

    Disease-causing germline mutation(s) inAssessed

  • FAM161A2p15

    Disease-causing germline mutation(s) inAssessed

  • ZNF5132p23.3

    Disease-causing germline mutation(s) inAssessed

  • CDHR110q23.1

    Disease-causing germline mutation(s) inAssessed

  • RP1L18p23.1

    Disease-causing germline mutation(s) inAssessed

  • DHDDS1p36.11

    Disease-causing germline mutation(s) inAssessed

  • PRPF620q13.33

    Disease-causing germline mutation(s) inAssessed

  • IFT4314q24.3

    Disease-causing germline mutation(s) inAssessed

  • MAK6p24.2

    Disease-causing germline mutation(s) inAssessed

  • RBP310q11.22

    Disease-causing germline mutation(s) inAssessed

  • CFAP4188q22.1

    Disease-causing germline mutation(s) inAssessed

  • IFT14016p13.3

    Disease-causing germline mutation(s) inAssessed

  • KIAA15497q34

    Disease-causing germline mutation(s) inAssessed

  • ZNF40811p11.2

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • ARL2BP16q13

    Disease-causing germline mutation(s) inAssessed

  • NEK21q32.3

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • IFT1722p23.3

    Disease-causing germline mutation(s) inAssessed

  • IMPG16q14.1

    Disease-causing germline mutation(s) inAssessed

  • COQ8B19q13.2

    Disease-causing germline mutation(s) inAssessed

  • TUB11p15.4

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • KIZ20p11.23

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • SLC7A143q26.2

    Disease-causing germline mutation(s) inAssessed

  • PRPF49q32

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • AGBL52p23.3

    Disease-causing germline mutation(s) inAssessed

  • DHX3816q22.2

    Disease-causing germline mutation(s) inAssessed

  • REEP619p13.3

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • ARHGEF1819p13.2

    Disease-causing germline mutation(s) inAssessed

  • IFT8813q12.11

    Disease-causing germline mutation(s) inAssessed

  • SCAPER15q24.3

    Disease-causing germline mutation(s) inAssessed

  • ARL310q24.32

    Disease-causing germline mutation(s) inAssessed

  • AHR7p21.1

    Disease-causing germline mutation(s) inAssessed

  • IDH3A15q25.1

    Candidate gene tested inNot yet assessed

Codifications validées (112) ↓
  • GARD:5694
  • ICD-10:H35.5
  • ICD-11:9B70
  • MONDO:0019200
  • MeSH:D012174
  • MedDRA:10038914
  • OMIM:153870
  • OMIM:180100
  • OMIM:180104
  • OMIM:180105
  • OMIM:180210
  • OMIM:268000
  • OMIM:268025
  • OMIM:268060
  • OMIM:300029
  • OMIM:300155
  • OMIM:300424
  • OMIM:300605
  • OMIM:312600
  • OMIM:312612
  • OMIM:400004
  • OMIM:600059
  • OMIM:600105
  • OMIM:600132
  • OMIM:600138
  • OMIM:600852
  • OMIM:601414
  • OMIM:601718
  • OMIM:602594
  • OMIM:602772
  • OMIM:604232
  • OMIM:604393
  • OMIM:606068
  • OMIM:607921
  • OMIM:608133
  • OMIM:608380
  • OMIM:609913
  • OMIM:609923
  • OMIM:610282
  • OMIM:610359
  • OMIM:610599
  • OMIM:611131
  • OMIM:612095
  • OMIM:612165
  • OMIM:612572
  • OMIM:612712
  • OMIM:612943
  • OMIM:613194
  • OMIM:613341
  • OMIM:613428
  • OMIM:613464
  • OMIM:613575
  • OMIM:613581
  • OMIM:613582
  • OMIM:613617
  • OMIM:613660
  • OMIM:613731
  • OMIM:613750
  • OMIM:613756
  • OMIM:613758
  • OMIM:613767
  • OMIM:613769
  • OMIM:613794
  • OMIM:613801
  • OMIM:613809
  • OMIM:613810
  • OMIM:613827
  • OMIM:613861
  • OMIM:613862
  • OMIM:613983
  • OMIM:614180
  • OMIM:614181
  • OMIM:614494
  • OMIM:614500
  • OMIM:615233
  • OMIM:615434
  • OMIM:615565
  • OMIM:615725
  • OMIM:615780
  • OMIM:615922
  • OMIM:616188
  • OMIM:616394
  • OMIM:616469
  • OMIM:616544
  • OMIM:616562
  • OMIM:617023
  • OMIM:617123
  • OMIM:617304
  • OMIM:617433
  • OMIM:617460
  • OMIM:617781
  • OMIM:617871
  • OMIM:618173
  • OMIM:618195
  • OMIM:618220
  • OMIM:618345
  • OMIM:618613
  • OMIM:618697
  • OMIM:618826
  • OMIM:618955
  • OMIM:619007
  • OMIM:619614
  • OMIM:619845
  • OMIM:620102
  • OMIM:620228
  • OMIM:621560
  • OMIM:621561
  • OMIM:621562
  • OMIM:621563
  • OMIM:621564
  • OMIM:621587
  • UMLS:C0035334

Pour aller plus loin (sources publiques)

📚 PubMed récent🔍 Rhumatologues

Toutes les données médicales : Orphadata (Orphanet, INSERM US14, CC-BY-4.0). Variants : ClinVar (NCBI). Phénotypes : HPO (Jackson Lab). Fiche purement sourcée — aucune donnée hardcodée.