罕见病知识库 RareSeen

色素性视网膜炎

Retinitis pigmentosa

ORPHA:791疾病中国目录 第1批 · 102

定义 英文原文（暂无中文）

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

基本事实

遗传方式
常染色体显性、常染色体隐性、线粒体遗传、X 连锁隐性
发病年龄
青少年期、成年期、儿童期
患病率
1-5 / 10 000（United States）

相关基因 97

基因名称关联类型
HKDC1hexokinase domain containing 1Disease-causing germline mutation(s) in
CA4carbonic anhydrase 4Candidate gene tested in
FSD1Lfibronectin type III and SPRY domain containing 1 likeDisease-causing germline mutation(s) in
SAXO6stabilizer of axonemal microtubules 6Disease-causing germline mutation(s) in
RNU6-1RNA, U6 small nuclear 1Disease-causing germline mutation(s) in
RNU6-2RNA, U6 small nuclear 2Disease-causing germline mutation(s) in
RNU6-8RNA, U6 small nuclear 8Disease-causing germline mutation(s) in
RNU6-9RNA, U6 small nuclear 9Disease-causing germline mutation(s) in
CFAP20cilia and flagella associated protein 20Disease-causing germline mutation(s) in
ABCA4ATP binding cassette subfamily A member 4Disease-causing germline mutation(s) in
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)Disease-causing germline mutation(s) in
PRCDphotoreceptor disc componentDisease-causing germline mutation(s) in
PRPF3pre-mRNA processing factor 3Disease-causing germline mutation(s) in
PRPF31pre-mRNA processing factor 31Disease-causing germline mutation(s) in
PRPF8pre-mRNA processing factor 8Disease-causing germline mutation(s) in
PRPH2peripherin 2Disease-causing germline mutation(s) in
RDH12retinol dehydrogenase 12Disease-causing germline mutation(s) in
RGRretinal G protein coupled receptorDisease-causing germline mutation(s) in
RHOrhodopsinDisease-causing germline mutation(s) in
RLBP1retinaldehyde binding protein 1Disease-causing germline mutation(s) in
ROM1retinal outer segment membrane protein 1Disease-causing germline mutation(s) in
RP1RP1 axonemal microtubule associatedDisease-causing germline mutation(s) in
RP2RP2 activator of ARL3 GTPaseDisease-causing germline mutation(s) in
RP9RP9 pre-mRNA splicing factorDisease-causing germline mutation(s) in
RPE65retinoid isomerohydrolase RPE65Disease-causing germline mutation(s) in
RPGRretinitis pigmentosa GTPase regulatorDisease-causing germline mutation(s) in
SAGS-antigen visual arrestinDisease-causing germline mutation(s) in
BBS1Bardet-Biedl syndrome 1Disease-causing germline mutation(s) in
BBS2Bardet-Biedl syndrome 2Disease-causing germline mutation(s) in
BEST1bestrophin 1Disease-causing germline mutation(s) in
RNU4-2RNA, U4 small nuclear 2Disease-causing germline mutation(s) in
CERKLCERK like autophagy regulatorDisease-causing germline mutation(s) in
AHI1Abelson helper integration site 1Disease-causing germline mutation(s) in
TTC8tetratricopeptide repeat domain 8Disease-causing germline mutation(s) in
TULP1TUB like protein 1Disease-causing germline mutation(s) in
USH2AusherinDisease-causing germline mutation(s) in
CLRN1clarin 1Disease-causing germline mutation(s) in
CNGA1cyclic nucleotide gated channel subunit alpha 1Disease-causing germline mutation(s) in
CRB1crumbs cell polarity complex component 1Disease-causing germline mutation(s) in
CRXcone-rod homeoboxDisease-causing germline mutation(s) in

临床表型 31

极常见 99–80%13

  • 视网膜电图异常 HP:0000512
  • 视网膜脉管形态异常 HP:0008046
  • 视网膜色素异常 HP:0007703
  • 失明 HP:0000618
  • 骨针样视网膜色素沉着 HP:0007737
  • 传导性听力受损 HP:0000405
  • 眼球震颤 HP:0000639
  • 视神经萎缩 HP:0000648
  • 畏光 HP:0000613
  • 渐进性夜盲症 HP:0007675
  • 视网膜变性 HP:0000546
  • 感音神经性听力受损 HP:0000407
  • 视觉障碍 HP:0000505

常见 79–30%15

  • 多焦视网膜电图中心反应异常 HP:0030488
  • 全视野视网膜电图异常 HP:0030466
  • 视网膜血管减少 HP:0007843
  • 囊样黄斑水肿 HP:0011505
  • 青光眼 HP:0000501
  • 高胰岛素血症 HP:0000842
  • 圆锥角膜 HP:0000563
  • 夜盲症 HP:0000662
  • 眼肌麻痹 HP:0000602
  • 视盘玻璃疣 HP:0012426
  • 视盘苍白 HP:0000543
  • 周边视野缺失 HP:0007994
  • OCT 测量法黄斑区光感受器外段损失 HP:0030610
  • 后囊下白内障 HP:0007787
  • 视网膜萎缩 HP:0001105

偶见 29–5%3

  • 色觉缺陷 HP:0000551
  • 闪光感 HP:0030786
  • 视力下降 HP:0007663

近两年的全球研究 4,200L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-08综述
    CDHR1-associated retinal degeneration: Clinical phenotypes and therapeutic approaches
    Progress in retinal and eye research · DOI · Europe PMC
  • 2026-08病例报告
    Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant
    The American journal of case reports · DOI · Europe PMC
  • 2026-08
    Integrating opportunistic ocular diseases screening into general health examination in Chinese: a multicentre study
    The British journal of ophthalmology · DOI · Europe PMC
  • 2026-08
    Expanding the ocular and genetic spectrum of FLVCR1-associated disease in a Chinese cohort
    Documenta ophthalmologica. Advances in ophthalmology · DOI · Europe PMC
  • 2026-08
    WDR34 Deficiency Disrupts Retrograde Intraflagellar Transport and Induces Unfolded Protein Response-Driven Inflammation and Retinal Degeneration
    Investigative ophthalmology & visual science · DOI · Europe PMC
  • 2026-08
    CLRN1 Variants in Müller Cells Cause Mitochondrial Dysfunction in USH3A Retinal Organoids
    CNS neuroscience & therapeutics · DOI · Europe PMC
  • 2026-08病例报告
    Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification
    Investigative ophthalmology & visual science · DOI · Europe PMC
  • 2026-08
    Metabolomics Effects of Folding Correction in Retinitis Pigmentosa Rhodopsin Mutant P23A
    FASEB journal : official publication of the Federation of American Soc · DOI · Europe PMC
  • 2026-08
    Restoration of Saccadic Eye Movements and Visually Guided Behavior in Ambient White Light with Photoswitchable Small Molecules
    Journal of the American Chemical Society · DOI · Europe PMC
  • 2026-07
    Transcranial magnetic stimulation as a novel therapeutic approach for severe retinal degenerative diseases: a pilot study
    The British journal of ophthalmology · DOI · Europe PMC
  • 2026-07病例报告
    <i>PAX6</i>-associated aniridia and <i>RPGR</i>-related X-linked retinitis pigmentosa: a rare dual Mendelian molecular diagnosis
    BMJ case reports · DOI · Europe PMC
  • 2026-07综述
    Gap junctions form bridges between bench studies and clinical ophthalmology
    Progress in retinal and eye research · DOI · Europe PMC
  • 2026-07综述
    Macular holes in inherited retinal dystrophies and vitreoretinopathies
    Survey of ophthalmology · DOI · Europe PMC
  • 2026-07
    A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction
    Science advances · DOI · Europe PMC
  • 2026-07
    Clinical and Genetic Landscape of RPGR-Associated Retinal Dystrophies in Portugal: Insights From the Nationwide IRD-PT Registry
    Clinical & experimental ophthalmology · DOI · Europe PMC
  • 2026-07
    The Drosophila CEBPG homolog Irbp18 partners with crc (ATF4) to mediate the integrated stress response in degenerative disease models
    Cell reports · DOI · Europe PMC
  • 2026-07综述
    Photoreceptor replacement: a disease-agnostic approach for the treatment of advanced retinal degeneration
    Eye (London, England) · DOI · Europe PMC
  • 2026-07
    Impact of Zonular Laxity on the Accuracy of Intraocular Lens Power Calculation Formulas in Cataract Patients with Retinitis Pigmentosa
    American journal of ophthalmology · DOI · Europe PMC
  • 2026-07
    Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics clinics: two-year experience
    Documenta ophthalmologica. Advances in ophthalmology · DOI · Europe PMC
  • 2026-07系统综述
    Comparative efficacy of different treatment modalities in the management of macular oedema in retinitis pigmentosa: a systematic review and network meta-analysis
    BMJ open ophthalmology · DOI · Europe PMC

境外已获批用于本病的药物 1L2

欧盟 1 项、美国 0 项。同一药物在两地各批一次的，会分别列出。

「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。

药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。

已获孤儿药资格、尚未获批的在研药物（73 项）

孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。

  • 4,7,10,13,16,19-docosahexaenoic acid欧盟2006-11-04
    Treatment of retinitis pigmentosa
    官方记录
  • adenovirus associated viral vector serotype 4 containing the human RPE欧盟2007-11-14
    Treatment of retinitis pigmentosa
    官方记录
  • recombinant human proinsulin欧盟2009-02-11
    Treatment of retinitis pigmentosa
    官方记录
  • Lentiviral vector containing the human MYO7A gene欧盟2010-03-23
    Treatment of retinitis pigmentosa in Usher syndrome 1B
    官方记录
  • 9-cis-Retinyl acetate欧盟2011-05-13
    Treatment of retinitis pigmentosa
    官方记录
  • recombinant human methionine proinsulin欧盟2012-04-26
    Treatment of retinitis pigmentosa
    官方记录
  • Encapsulated human retinal pigment epithelial cell line transfected wi欧盟2013-01-24
    Treatment of retinitis pigmentosa
    官方记录
  • recombinant human nerve growth factor欧盟2013-06-07
    Treatment of retinitis pigmentosa
    官方记录
  • adenovirus associated viral vector serotype 5 containing the human pde欧盟2013-06-19
    Treatment of retinitis pigmentosa
    官方记录
  • expanded human allogeneic neural retinal progenitor cells extracted fr欧盟2013-06-19
    Treatment of retinitis pigmentosa
    官方记录
  • myriocin欧盟2015-02-12
    Treatment of retinitis pigmentosa
    官方记录
  • sodium 3-[(4aR,6R,7R,7aS)-7-hydroxy-2-oxido-2-sulfanylidene-4a,6,7,7a-欧盟2015-03-19
    Treatment of retinitis pigmentosa
    官方记录
  • recombinant human mesencephalic astrocyte-derived neurotrophic factor欧盟2015-04-24
    Treatment of retinitis pigmentosa
    官方记录
  • allogeneic fetal human retinal progenitor cells expanded ex vivo欧盟2016-02-17
    Treatment of retinitis pigmentosa
    官方记录
  • recombinant adeno-associated viral vector containing the human RPGR ge欧盟2016-05-30
    Treatment of retinitis pigmentosa caused by mutations in the RPGR gene
    官方记录
  • adeno-associated viral vector serotype 2.7m8 containing the ChrimsonR-欧盟2016-07-14
    Treatment of retinitis pigmentosa
    官方记录
  • adeno-associated viral vector serotype 5 containing the human RLBP1 ge欧盟2016-10-14
    Treatment of retinitis pigmentosa
    官方记录
  • adeno-associated viral vector serotype 8 encoding engineered rhodopsin欧盟2016-12-12
    Treatment of retinitis pigmentosa
    官方记录
  • antisense oligonucleotide targeting the USH2A gene欧盟2017-03-20
    Treatment of retinitis pigmentosa
    官方记录
  • antisense oligonucleotide targeting exon 13 in the USH2A gene欧盟2017-08-23
    Treatment of retinitis pigmentosa
    官方记录
  • adenovirus-associated viral vector serotype 8 containing the human RPG欧盟2018-02-22
    Treatment of retinitis pigmentosa
    官方记录
  • ultevursen欧盟2018-02-22
    Treatment of retinitis pigmentosa
    官方记录
  • Adeno-associated virus serotype 2/8 vector containing the human PDE6A 欧盟2020-08-21
    Treatment of retinitis pigmentosa
    官方记录
  • DNA plasmid encoding human transferrin gene欧盟2020-11-13
    Treatment of retinitis pigmentosa
    官方记录
  • Adeno-associated virus serotype 5 containing the human NR2E3 gene欧盟2021-02-19
    Treatment of retinitis pigmentosa
    官方记录
  • melatonin欧盟2021-05-20
    Treatment of retinitis pigmentosa
    官方记录
  • revakinagene taroretcel美国2004-09-01
    treatment of retinitis pigmentosa
    官方记录
  • Urea for intravitreal injection美国2005-12-14
    Treatment of retinitis pigmentosa
    官方记录
  • recombinant human proinsulin (Including rhPI-Methionine)美国2008-12-10
    Treatment of retinitis pigmentosa
    官方记录
  • lentiviral vector containing the human MY07A gene美国2010-05-17
    Treatment of retinitis pigmentosa associated with Usher syndrome 1B gene defect.
    官方记录
  • human retinal progenitor cells美国2012-07-23
    Treatment of retinitis pigmentosa
    官方记录
  • adeno-associated viral vector containing DNA encoding an RNAi targetin美国2012-12-13
    treatment of retinitis pigmentosa
    官方记录
  • recombinant human nerve growth factor美国2013-08-08
    Treatment of retinitis pigmentosa
    官方记录
  • expanded human allogeneic neural retinal progenitor cells extracted fr美国2013-08-22
    Treatment of retinitis pigmentosa
    官方记录
  • N-acetyl cysteine amide美国2013-12-31
    Treatment of retinitis pigmentosa
    官方记录
  • recombinant lens epithelium derived growth factor 1-326美国2014-05-19
    Treatment of retinitis pigmentosa
    官方记录
  • all-cis-docosa-4,7,10,13,16,19-hexaenoic acid美国2014-05-21
    Treatment of retinitis pigmentosa
    官方记录
  • human recombinant mesencephalic, astrocyte derived neurotrophic factor美国2014-12-22
    Treatment of retinitis pigmentosa
    官方记录
  • adenovirus-associated viral vector serotype 5 containing the human pde美国2016-07-05
    Treatment of retinitis pigmentosa due to pde6B gene mutations
    官方记录
  • adeno-associated viral vector serotype 2.7m8 containing the chrimsonR-美国2017-01-25
    Treatment of retinitis pigmentosa
    官方记录

另有 33 项未列出。

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 17L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 8

  • 招募中NCT05874310
    Gene Therapy for Subjects With RPGR Mutation-associated X-linked Retinitis Pigmentosa
    早期 I 期 · 干预性 · 2023/02/01Frontera Therapeutics
    中国研究中心 2 个：Beijing、Shanghai
  • 招募中NCT05853107
    Pilot Study of AuTNA I
    不适用 · 干预性 · 2023/05/12Eye & ENT Hospital of Fudan University
    中国研究中心 1 个：Shanghai
  • 招募中NCT06292650
    Safety and Efficacy Study of Novel Gene Therapy ZM-02 for Retinitis Pigmentosa Patients
    早期 I 期 · 干预性 · 2024/02/25Zhongmou Therapeutics
    中国研究中心 1 个：Beijing
  • 招募中NCT06936787
    An Open-label, Dose-ascending Study of IGT001 for Retinitis Pigmentosa
    I 期 · 干预性 · 2025/04/20Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
    中国研究中心 1 个：Shanghai
  • 尚未开始招募NCT07082855
    A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
    III 期 · 干预性 · 2025/07/15Zhongshan Ophthalmic Center, Sun Yat-sen University
    中国研究中心 1 个：Guangzhou
  • 招募中NCT06952842
    Safety and Efficacy of ZVS203e in the Treatment of Retinitis Pigmentosa Caused by RHO Gene Mutation
    I 期、II 期 · 干预性 · 2025/08/04Chigenovo Co., Ltd
    中国研究中心 1 个：Beijing
  • 招募中NCT07126470
    Impact of Capsular Tension Ring on Intraocular Lens Position in Retinitis Pigmentosa Cataract Patients
    不适用 · 干预性 · 2025/08/25Zhongshan Ophthalmic Center, Sun Yat-sen University
    中国研究中心 3 个：Guangzhou、Shenzhen、Wuhan
  • 尚未开始招募NCT07311863
    UGX202 Injection in Patients With Advanced Retinitis Pigmentosa
    早期 I 期 · 干预性 · 2026/01Suzhou UgeneX Therapeutics Co., Ltd.
    中国研究中心 1 个：Shanghai
其他状态的试验（9 项）
  • 已完成NCT00231010
    Molecular Genetics of Retinal Degenerations
    观察性 · 2005/09/26National Eye Institute (NEI)
    中国研究中心 1 个：Guangzhou
  • 状态未知NCT02465749
    Clinical Trials of Continuous Oxygen Therapy Combined With Blue Light Deprivation in the Treatment of Retinitis Pigmentosa
    早期 I 期 · 干预性 · 2015/05Sun Yat-sen University
    中国研究中心 1 个：Guangzhou
  • 状态未知NCT03566147
    Treatment of RP and LCA by Primary RPE Transplantation
    早期 I 期 · 干预性 · 2018/08/01Eyecure Therapeutics Inc.
    中国研究中心 1 个：Beijing
  • 已完成NCT04068207
    Minocycline Treatment in Retinitis Pigmentosa
    II 期 · 干预性 · 2019/08/25Sun Yat-sen University
    中国研究中心 1 个：Guangzhou
  • 已完成NCT04723160
    Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph
    观察性 · 2020/08/10Visionary Intelligence Ltd.
    中国研究中心 5 个：Beijing、Chengdu、Shijiazhuang、Tianjin、Wenzhou
  • 进行中·不再招募NCT03944239
    Safety and Efficacy of Subretinal Transplantation of Clinical Human Embryonic Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Retinitis Pigmentosa
    I 期 · 干预性 · 2021/05/19Qi Zhou
    中国研究中心 1 个：Beijing
  • 状态未知NCT05805007
    Safety and Tolerability Study of Gene Editing Drug ZVS203e in Participants With Retinitis Pigmentosa
    早期 I 期 · 干预性 · 2023/09/12Peking University Third Hospital
    中国研究中心 1 个：Beijing
  • 状态未知NCT06076720
    Evaluation of New Head-mounted Visual Aids Among Patients With Low Vision
    不适用 · 干预性 · 2023/10/10Zhongshan Ophthalmic Center, Sun Yat-sen University
    中国研究中心 1 个：Guangzhou
  • 状态未知NCT06492850
    Gene Therapy for RPGR Gene Mutation-associated X-linked Retinitis Pigmentosa
    I 期、II 期 · 干预性 · 2024/04/01Frontera Therapeutics
    中国研究中心 1 个：Beijing

中国境外的在招试验 64L2

这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。

美国21法国7澳大利亚6德国6以色列4意大利4加拿大3印度尼西亚2英国2荷兰2奥地利2Russia1埃及1泰国1另有 9 个国家/地区

CT.gov 报告命中 64 项，此处取回并展示最近的 15 项。

  • 尚未开始招募NCT05914233
    Non-invasive Ultrasound Retinal Stimulation for Vision Restoration
    不适用 · 干预性 · 2027/01/10University of Southern California
  • 尚未开始招募NCT07290530
    24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
    III 期 · 干预性 · 2026/12Nacuity Pharmaceuticals, Inc.
  • 尚未开始招募NCT07710196
    A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
    III 期 · 干预性 · 2026/08Nacuity Pharmaceuticals, Inc.
  • 招募中NCT07341763
    Brain Stimulation Effects on Orientation and Mobility Skills in Adults With Vision Impairment
    不适用 · 干预性 · 2026/07/01University of Waterloo
    加拿大
  • 尚未开始招募NCT07282457
    Prospective, Randomized, Sham-controlled, Dose-finding I/II Trial of Safety and Efficacy of Modified Optogenetic Gene Therapy (ZM-02 Injection)
    I 期、II 期 · 干预性 · 2026/06/25Zhongmou Therapeutics
  • 尚未开始招募NCT05786287
    Long-term Safety of UC-MSC Transplantation in Patients With Retinitis Pigmentosa
    观察性 · 2026/05PT. Prodia Stem Cell Indonesia
    印度尼西亚
  • 尚未开始招募NCT05909488
    Role of UC-MSC and CM to Inhibit Vision Loss in Retinitis Pigmentosa Phase I/II
    II 期、III 期 · 干预性 · 2026/05PT. Prodia Stem Cell Indonesia
    印度尼西亚
  • 招募中NCT07266584
    Restoration of Central Vision With PRIMA in Patients With Photoreceptor Degeneration
    不适用 · 干预性 · 2026/04/22Science Corporation
    澳大利亚
  • 招募中NCT07548944
    Observational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual Performance
    观察性 · 2026/04/20Okuvision GmbH
    德国
  • 招募中NCT06891885
    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
    I 期、II 期 · 干预性 · 2026/04/16Sumitomo Pharma America, Inc.
    美国
  • 尚未开始招募NCT02018692
    The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa
    I 期、II 期 · 干预性 · 2026/03/01Sheba Medical Center
    以色列
  • 招募中NCT07502664
    Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
    观察性 · 2026/02/19Ray Therapeutics, Inc.
    美国
  • 尚未开始招募NCT07265895
    Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations
    观察性 · 2026/01/01IRCCS San Raffaele
    意大利
  • 尚未开始招募NCT07298174
    Wide Field OCTA in Ocular Diseases
    观察性 · 2026/01IRCCS San Raffaele
  • 招募中NCT07292987
    Implementation and Evaluation of a Post-Diagnostic Announcement Protocol at the CRMR RefeRet, Quinze-Vingts Hospital
    不适用 · 干预性 · 2025/12/01Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
    法国

外部标识与链接

OrphanetOMIM:153870OMIM:180100OMIM:180104MONDO:0019200GARD:5694ICD-10 H35.5ICD-11 9B70ClinicalTrials.gov 检索

发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号

本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）