Georgiou M. |  Robson A.G.... -  《Progress in retinal and eye research》 - 2024,100 - 101244～101244 - 共6页

摘要：? 2024Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and in children. The scope of this review is to familiarise clinicians and scientists with the cur...

关键词： ABCA4 |  Achromatopsia |  AIPL1 |  ATF6 |  Autosomal dominant drusen |  Best disease |  BEST1 |  Bietti crystalline dystrophy |  Blue-cone monochromatism |  Bornholm Eye Disease...

Daich Varela M. |  Georgiou M.... -  《American Journal of Ophthalmology: The International Journal of Ophthalmology》 - 2023,246 - 107～121 - 共15页 - 被引量：9

摘要：? 2022 The AuthorsPURPOSE: To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies. DESIGN: Multicenter international retrospective cohort study. ...

关键词： CRB1 |  Early Onset Severe Retinal Dystrophy |  Fundus autofluorescence |  Gene therapy |  Genotype |  LCA |  Macular dystrophy |  Optical coherence tomography |  Phenotype |  Retinal dystrophy...

Georgiou M. |  Robson A.G.... -  《Ophthalmology》 - 2023,130(4) - 413～422 - 共10页 - 被引量：7

摘要：? 2022 American Academy of OphthalmologyPurpose: To review and describe in detail the clinical course, functional and anatomic characteristics of RP2-associated retinal degeneration. Design: Retrospec...

关键词： Genetics |  Genotyping |  Inherited retinal diseases |  Phenotyping |  Retinitis Pigmentosa |  Retinopathy |  RP2

Fischer N. |  Duignan E.... -  《Retinal cases & brief reports》 - 2022,16(4) - 507～510 - 共4页

摘要：? 2022 Lippincott Williams and Wilkins. All rights reserved.Purpose:To demonstrate phenotypic discordance between a monozygotic twin pair, one of whom exhibited pigmented paravenous chorioretinal atro...

关键词： discordant phenotypes |  monozygotic twins |  pigmented paravenous chorioretinal atrophy

Georgiou M. |  Fujinami K.... -  《American Journal of Ophthalmology: The International Journal of Ophthalmology》 - 2021,230 - 1～11 - 共11页 - 被引量：12

摘要：? 2021 The AuthorsPurpose: To describe the detailed retinal phenotype of KCNV2-associated retinopathy. Study design: Multicenter international retrospective case series. Methods: Review of retinal ima...

Ba-Abbad R. |  Holder G.E.... -  《american journal of ophthalmology case reports》 - 2019,14 - 83～86

摘要：© 2019 The AuthorsPurpose: To describe the clinical and electrophysiological features of an unusual retinopathy in a patient with a novel genotype of CNGB1, mutations in which are implicated in autoso...

关键词： Cone-isolated retina |  Cyclic nucleotide-gated channels |  Glutamic-acid rich protein (GARP) |  Night blindness |  Retinitis pigmentosa |  Rod dysfunction

Robson A.G. -  《Zhonghua Yanke Zazhi》 - 2020,56(7) - 492～508