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Leber先天性黑矇

Leber congenital amaurosis

ORPHA:65疾病中国目录 第2批 · 43

定义 英文原文（暂无中文）

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

别名

Leber先天性黒矇

基本事实

遗传方式
常染色体显性、常染色体隐性
发病年龄
婴儿期、新生儿期
患病率
1-9 / 100 000（Europe）

相关基因 26

基因名称关联类型
PRPH2peripherin 2Disease-causing germline mutation(s) in
RD3RD3 regulator of GUCY2DDisease-causing germline mutation(s) in
RDH12retinol dehydrogenase 12Disease-causing germline mutation(s) (loss of function) in
RPE65retinoid isomerohydrolase RPE65Disease-causing germline mutation(s) in
RPGRIP1RPGR interacting protein 1Disease-causing germline mutation(s) (loss of function) in
CABP4calcium binding protein 4Disease-causing germline mutation(s) in
CEP290centrosomal protein 290Disease-causing germline mutation(s) in
AIPL1AIP like 1 HSP90 co-chaperoneDisease-causing germline mutation(s) in
ALMS1ALMS1 centrosome and basal body associated proteinDisease-causing germline mutation(s) in
TULP1TUB like protein 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
GUCY2Dguanylate cyclase 2D, retinalDisease-causing germline mutation(s) (loss of function) in
IMPDH1inosine monophosphate dehydrogenase 1Disease-causing germline mutation(s) in
IQCB1IQ motif containing B1Disease-causing germline mutation(s) (loss of function) in
OTX2orthodenticle homeobox 2Disease-causing germline mutation(s) in
LCA5lebercilin LCA5Disease-causing germline mutation(s) in
KCNJ13potassium inwardly rectifying channel subfamily J member 13Disease-causing germline mutation(s) in
LRATlecithin retinol acyltransferaseDisease-causing germline mutation(s) in
SPATA7spermatogenesis associated 7Disease-causing germline mutation(s) in
GDF6growth differentiation factor 6Disease-causing germline mutation(s) in
IFT140intraflagellar transport 140Disease-causing germline mutation(s) in
NMNAT1nicotinamide nucleotide adenylyltransferase 1Disease-causing germline mutation(s) in
PCYT1Aphosphate cytidylyltransferase 1A, cholineDisease-causing germline mutation(s) (loss of function) in
USP45ubiquitin specific peptidase 45Disease-causing germline mutation(s) in
TUBB4Btubulin beta 4B class IVbDisease-causing germline mutation(s) in

临床表型 25

极常见 99–80%3

  • 视网膜色素异常 HP:0007703
  • 视盘形态异常 HP:0012795
  • 视力严重下降 HP:0001141

常见 79–30%15

  • 视网膜电图异常 HP:0000512
  • 全视野视网膜电图异常 HP:0030466
  • 神经细胞迁移异常 HP:0002269
  • 小脑蚓部发育缺陷/发育不全 HP:0006817
  • 白内障 HP:0000518
  • 脑膨出 HP:0002084
  • 戳眼 HP:0001483
  • 偏瘫/轻偏瘫 HP:0004374
  • 远视 HP:0000540
  • 肌张力减退 HP:0001252
  • 圆锥角膜 HP:0000563
  • 眼球震颤 HP:0000639
  • 畏光 HP:0000613
  • 癫痫发作 HP:0001250
  • 瞳孔对光反应缓慢 HP:0030211

偶见 29–5%7

  • 自闭症行为 HP:0000729
  • 全面发育迟缓 HP:0001263
  • 听力受损 HP:0000365
  • 智力障碍 HP:0001249
  • 运动发育迟缓 HP:0001270
  • 视盘玻璃疣 HP:0012426
  • 视盘苍白 HP:0000543

近两年的全球研究 852L2

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。

  • 2026-07
    Breakpoint-level characterization of a novel CEP290 tandem duplication in trans with a pathogenic splice-site variant in a patient with Leber congenital amaurosis
    BMC medical genomics · DOI · Europe PMC
  • 2026-07
    AI-engineered AAV capsid enables intravitreal delivery for the treatment of diverse retinal degenerations
    Molecular therapy. Advances · DOI · Europe PMC
  • 2026-06
    Clinical and genetic characteristics of RPE65-associated inherited retinal degeneration in Koreans
    Scientific reports · DOI · Europe PMC
  • 2026-06综述
    Programmed axon degeneration gene variants in human disease
    Experimental neurology · DOI · Europe PMC
  • 2026-06
    Ora visual navigation course™ mobility test results in two individuals with <i>CEP290</i> LCA after intravitreal injection of antisense oligonucleotide
    Ophthalmic genetics · DOI · Europe PMC
  • 2026-06
    Absent cone function and stable ophthalmic features in a non-syndromic woman with pathogenic variants in <i>CEP290</i>
    Ophthalmic genetics · DOI · Europe PMC
  • 2026-06综述
    Trends in the Engineering of Adeno-Associated Virus (AAV) for Precision Gene Delivery to the Central Nervous System (CNS)
    International journal of molecular sciences · DOI · Europe PMC
  • 2026-06
    Personalized Pathogenicity Assessment of <i>RPE65</i> Gene Mutations Using Patient-Specific hiPSC-Derived Retinal Pigment Epithelium Model
    International journal of molecular sciences · DOI · Europe PMC
  • 2026-06
    Screening for RPE65 genetic variants in Egyptian children with inherited retinal disorders: a study from a tertiary eye care center in Egypt
    Documenta ophthalmologica. Advances in ophthalmology · DOI · Europe PMC
  • 2026-06系统综述开放获取
    A systematic review of neuroprotective therapies for visual acuity preservation in retinitis pigmentosa
    BMJ open ophthalmology · DOI · Europe PMC
  • 2026-06病例报告开放获取
    Coats-like exudative vasculopathy in a patient with Bardet-Biedl syndrome
    American journal of ophthalmology case reports · DOI · Europe PMC
  • 2026-06综述
    Therapeutic applications of gene editing using CRISPR-Cas9 in the posterior segment: review of the literature
    Archivos de la Sociedad Espanola de Oftalmologia · DOI · Europe PMC
  • 2026-06病例报告
    The co-occurrence of homozygous variants in GUCY2D and MYO7A in Leber congenital amaurosis associated with deafness: clinical, molecular, and in silico investigation
    Molecular biology reports · DOI · Europe PMC
  • 2026-06开放获取
    A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation
    Journal of human immunity · 被引 2 · DOI · Europe PMC
  • 2026-06开放获取
    Engineered tRNA reduces vision loss in a mouse model of Leber congenital amaurosis
    Signal transduction and targeted therapy · DOI · Europe PMC
  • 2026-06综述
    Revisiting retinal and macular degeneration in the genomics era
    Nature reviews. Genetics · DOI · Europe PMC
  • 2026-06综述
    Pathogenicity Analysis of Two Novel CRB1 Mutations in Three Chinese Inherited Retinal Dystrophy Families and a Literature Review
    Translational vision science & technology · DOI · Europe PMC
  • 2026-06开放获取
    Swiss cheese Is Essential for Maintaining Spermatogenesis and the Proper Functioning of Biological Barriers in Drosophila
    International journal of molecular sciences
  • 2026-06开放获取
    Streamlined synthetic regulatory cassette for efficient and photoreceptor-enriched retinal gene expression
    Molecular therapy. Nucleic acids
  • 2026-06开放获取
    DELETION INVOLVING EXON 18 OF RPGRIP1 IS a MAJOR CAUSE OF ACHROMATOPSIA
    Retina (Philadelphia, Pa.) · 被引 1 · 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（5 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。

  • Recombinant adeno-associated virus retinal pigment epithelium gene vec美国2008-06-24
    Treatment of Leber congenital amaurosis due to RPE65 mutations.
    官方记录
  • adenovirus associated viral vector serotype 5 containing the human RPE美国2016-03-10
    Treatment of Leber congenital amaurosis
    官方记录
  • adenovirus associated viral vector serotype 8 containing the human AIP美国2018-02-01
    Treatment of inherited retinal dystrophy due to defects in AIPL1 gene, including Leber congenital amaurosis, retinitis pigmentosa, and cone-rod dystrophy
    官方记录
  • Human Nuclear Hormone Receptor Subfamily 2 Group E Member 3 (hNR2E3)美国2022-12-15
    Treatment of Leber congenital amaurosis
    官方记录
  • adeno-associated virus serotype 8 vector containing single-stranded DN美国2024-09-18
    treatment of retinal dystrophy due to mutations in the lebercilin gene, including Leber congenital amaurosis
    官方记录

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 3L2

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 1

  • 招募中NCT05906953
    Safety and Efficacy Trial of HG004 for Leber Congenital Amaurosis Related to Rpe65 Gene Mutations (STAR)
    I 期、II 期 · 干预性 · 2023/10/31HuidaGene Therapeutics Co., Ltd.
    中国研究中心 1 个：Shanghai
其他状态的试验（2 项）
  • 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
  • 进行中·不再招募NCT06088992
    Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial(LIGHT)
    早期 I 期 · 干预性 · 2023/01/10Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
    中国研究中心 1 个：Shanghai

中国境外的在招试验 6L2

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4比利时1巴西1加拿大1法国1德国1荷兰1西班牙1英国1澳大利亚1

CT.gov 报告命中 6 项，此处取回并展示最近的 5 项。

  • 尚未开始招募NCT07681778
    Safety and Tolerability of Subretinal OPGx-RDH12-1001 for LCA-Associated Inherited Retinal Degeneration (LCA-IRD)
    I 期、II 期 · 干预性 · 2026/09/01Opus Genetics, Inc
    美国
  • 招募中NCT06891443
    Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
    III 期 · 干预性 · 2025/06/04Laboratoires Thea
    比利时、巴西、加拿大、法国、德国、荷兰、西班牙、英国 等 9 国
  • 尚未开始招募NCT06024057
    An Expanded Clinical Study Evaluating the AAV2-RPE65 Gene Therapy(LX101) in Patients With LCA
    不适用 · 干预性 · 2023/09/01Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
  • 招募中NCT02435940
    Inherited Retinal Degenerative Disease Registry
    观察性 · 2014/06Foundation Fighting Blindness
    美国
  • 招募中NCT01793168
    Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
    观察性 · 2010/07Sanford Health
    澳大利亚、美国

外部标识与链接

OrphanetOMIM:179900OMIM:204000OMIM:204100MONDO:0018998GARD:634ICD-10 H35.5ICD-11 9B70ClinicalTrials.gov 检索

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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）