Georgiou, Michalis;
Robson, Anthony G;
Fujinami, Kaoru;
de Guimarães, Thales AC;
Fujinami-Yokokawa, Yu;
Daich Varela, Malena;
Pontikos, Nikolas;
... Michaelides, Michel; + view all
(2024)
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, leber congenital amaurosis, and cone dysfunction syndromes.
Progress in Retinal and Eye Research
, Article 101244. 10.1016/j.preteyeres.2024.101244.
(In press).
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Abstract
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and children. The scope of this review is to familiarise clinicians and scientists with the current landscape of molecular genetics, clinical phenotype, retinal imaging and therapeutic prospects/completed trials in IRD. Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2-associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)), (ii) cone and cone-rod dystrophies (GUCA1A, PRPH2, ABCA4, KCNV2 and RPGR), (iii) predominant rod or rod-cone dystrophies (retinitis pigmentosa, enhanced S-Cone syndrome (NR2E3), Bietti crystalline corneoretinal dystrophy (CYP4V2)), (iv) Leber congenital amaurosis/early-onset severe retinal dystrophy (GUCY2D, CEP290, CRB1, RDH12, RPE65, TULP1, AIPL1 and NMNAT1), (v) cone dysfunction syndromes (achromatopsia (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6), X-linked cone dysfunction with myopia and dichromacy (Bornholm Eye disease; OPN1LW/OPN1MW array), oligocone trichromacy, and blue-cone monochromatism (OPN1LW/OPN1MW array). Whilst we use the aforementioned classical phenotypic groupings, the beauty of IRD is that it is characterised by unrivalled heterogeneity and variable expressivity, with several of the above genotypes associated with a range of phenotypes.
| Type: | Article |
|---|---|
| Title: | Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, leber congenital amaurosis, and cone dysfunction syndromes |
| Location: | England |
| DOI: | 10.1016/j.preteyeres.2024.101244 |
| Publisher version: | https://doi.org/10.1016/j.preteyeres.2024.101244 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | ABCA4, AIPL1, ATF6, Achromatopsia, Autosomal dominant drusen, BEST1, Best disease, Bietti crystalline dystrophy, Blue-cone monochromatism, Bornholm Eye Disease, CEP290, CNGA3, CNGB3, CRB1, CYP4V2, Cone-rod dystrophies, EFEMP1, Early-onset severe retinal dystrophy, Enhanced S-cone syndrome, FAF, GNAT2, GUCA1A, GUCY2D, LCA, Leber congenital amaurosis, NMNAT1, rod-cone dystrophies, NR2E3, OCT, OPN1LW/OPN1MW, Oligocone Trichromacy, PDE6C, PDE6H, PRPH2, Pattern dystrophy, R9AP, RDH12, RGS9, RPE65, RPGR, cone dysfunction syndromes, RS1, Retinal imaging, Retinitis pigmentosa, Sorsby fundus dystrophy, Stargardt disease, TIMP3, TULP1, X-linked retinoschisis |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10186523 |
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