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遗传性视锥视杆细胞营养不良

Cone rod dystrophy

ORPHA:1872疾病

定义 英文原文（暂无中文）

A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.

基本事实

遗传方式
常染色体显性、常染色体隐性、X 连锁隐性
发病年龄
青少年期、成年期、儿童期
患病率
1-9 / 100 000（Europe）

相关基因 33

基因名称关联类型
FSD1Lfibronectin type III and SPRY domain containing 1 likeDisease-causing germline mutation(s) in
ABCA4ATP binding cassette subfamily A member 4Disease-causing germline mutation(s) in
PRPH2peripherin 2Disease-causing germline mutation(s) in
RIMS1regulating synaptic membrane exocytosis 1Disease-causing germline mutation(s) in
RPGRretinitis pigmentosa GTPase regulatorDisease-causing germline mutation(s) in
RPGRIP1RPGR interacting protein 1Disease-causing germline mutation(s) in
CACNA1Fcalcium voltage-gated channel subunit alpha1 FDisease-causing germline mutation(s) in
AIPL1AIP like 1 HSP90 co-chaperoneCandidate gene tested in
CNGA3cyclic nucleotide gated channel subunit alpha 3Disease-causing germline mutation(s) in
CRXcone-rod homeoboxDisease-causing germline mutation(s) in
GUCA1Aguanylate cyclase activator 1ADisease-causing germline mutation(s) in
GUCY2Dguanylate cyclase 2D, retinalDisease-causing germline mutation(s) in
OPN1LWopsin 1, long wave sensitiveDisease-causing germline mutation(s) in
OPN1MWopsin 1, medium wave sensitiveDisease-causing germline mutation(s) in
RAX2retina and anterior neural fold homeobox 2Disease-causing germline mutation(s) in
SEMA4Asemaphorin 4ADisease-causing germline mutation(s) in
MFSD8major facilitator superfamily domain containing 8Disease-causing germline mutation(s) in
PROM1prominin 1Disease-causing germline mutation(s) in
CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4Disease-causing germline mutation(s) in
PITPNM3PITPNM family member 3Disease-causing germline mutation(s) in
ADAM9ADAM metallopeptidase domain 9Disease-causing germline mutation(s) in
UNC119unc-119 lipid binding chaperoneDisease-causing germline mutation(s) in
CDHR1cadherin related family member 1Disease-causing germline mutation(s) in
CFAP418cilia and flagella associated protein 418Disease-causing germline mutation(s) in
NMNAT1nicotinamide nucleotide adenylyltransferase 1Disease-causing germline mutation(s) in
RAB28RAB28, member RAS oncogene familyDisease-causing germline mutation(s) in
POC1BPOC1 centriolar protein BDisease-causing germline mutation(s) (loss of function) in
DRAM2DNA damage regulated autophagy modulator 2Disease-causing germline mutation(s) (loss of function) in
ATF6activating transcription factor 6Disease-causing germline mutation(s) in
TTLL5tubulin tyrosine ligase like 5Disease-causing germline mutation(s) (loss of function) in
CFAP410cilia and flagella associated protein 410Disease-causing germline mutation(s) in
TLCD3BTLC domain containing 3BDisease-causing germline mutation(s) (loss of function) in
UBAP1Lubiquitin associated protein 1 likeDisease-causing germline mutation(s) in

临床表型 15

极常见 99–80%3

  • 视网膜色素异常 HP:0007703
  • 夜盲症 HP:0000662
  • 畏光 HP:0000613

常见 79–30%9

  • 全视野视网膜电图异常 HP:0030466
  • 视网膜血管减少 HP:0007843
  • 骨针样视网膜色素沉着 HP:0007737
  • 中心暗点 HP:0000603
  • 色觉缺陷 HP:0000551
  • 色觉障碍 HP:0007641
  • 视盘苍白 HP:0000543
  • 进行性视力下降 HP:0000529
  • 视网膜萎缩 HP:0001105

偶见 29–5%3

  • 视物变形 HP:0012508
  • 眼球震颤 HP:0000639
  • 视觉障碍 HP:0000505

外部标识与链接

OrphanetOMIM:120970OMIM:300476OMIM:300834MONDO:0015993GARD:10790ICD-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）