The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders

Cornea and Corneal DiseasesConjunctivitisBlindness and Vision ImpairmentFlammer SyndromeGlaucoma and Ocular PressureLensesMacular DiseasesOcular OncologyRetinal DiseasesSurgery and InterventionUveitisCataractsDry Eye Disease

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

Int J Mol Sci

Maggi J, Koller S, Bähr L, Feil S, Kivrak Pfiffner F, Hanson JVM, Maspoli A, Gerth-Kahlert C, Berger W

doi: 10.3390/ijms22041508

Retinal Diseases

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease

Ophthalmology.

Taylor RL, Parry NR, Barton SJ, Campbell C, Delaney CM, Ellingford JM, Hall G, Hardcastle C, Morarji J, Nichol EJ, Williams LC, Douzgou S, Clayton-Smith J, Ramsden SC, Sharma V, Biswas S, Lloyd IC, Ashworth JL, Black GC, Sergouniotis PI

Blindness and Vision Impairment

A Newly Developed Web-Based Resource on Genetic Eye Disorders for Users With Visual Impairment (Gene.Vision): Usability Study

J Med Internet Res

Yeong JL, Thomas P, Buller J, Moosajee M

doi: 10.2196/19151

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Macular DiseasesRetinal Diseases

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

★ 2 Recommended by PD Dr Moreno Menghini, Faculty Member

doi: 10.1001/jamaophthalmol.2020.0666.

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

JAMA Ophthalmol.

Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project

doi: 10.1001/

Dry Eye Disease

Characteristics and Risk Factors Associated With Diagnosed and Undiagnosed Symptomatic Dry Eye Using a Smartphone Application

JAMA Ophthalmol.

Inomata T, Iwagami M, Nakamura M, Shiang T, Yoshimura Y, Fujimoto K, Okumura Y, Eguchi A, Iwata N, Miura M, Hori S, Hiratsuka Y, Uchino M, Tsubota K, Dana R, Murakami A

doi: 10.1001/jamaophthalmol.2019.4815.

Macular Diseases

Genetic risk, lifestyle, and AMD in Europe. The EYE-RISK consortium

Ophthalmology

Colijn JM, Meester M, Verzijden T, de Breuk A, Silva R, Merle BMJ, Cougnard-Grégoire A, Hoyng CB, Fauser S, Coolen T, Creuzot-Garcher C, Hense HW, Ueffing M, Delcourt C, Hollander AID, Klaver CCW, EYE-RISK Consortium.

doi: 10.1016/j.ophtha.2020.11.024

Further Publications

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye

JAMA

Genetics of Exfoliation Syndrome Partnership., Li Z, Wang Z, Lee MC, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams SEI, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe SI, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim KS, Meah WY, Soo HM, Chen XY, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou ES, Mikropoulos DG, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur ME, Husain R, Perera SA, Álvarez L, García M, González-Iglesias H, Cueto AFV, Cueto LFV, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasim B, Astakhov YS, Astakhov SY, Akopov EL, Giessl A, Mardin C, Hellerbrand C, Cooke Bailey JN, Igo RP Jr, Haines JL, Edward DP, Heegaard S, Davila S, Tan P, Kang JH, Pasquale LR, Kruse FE, Reis A, Carmichael TR, Hauser M, Ramsay M, Mossböck G, Yildirim N, Tashiro K, Konstas AGP, Coca-Prados M, Foo JN, Kinoshita S, Sotozono C, Kubota T, Dubina M, Ritch R, Wiggs JL, Pasutto F, Schlötzer-Schrehardt U, Ho YS, Aung T, Tam WL, Khor CC

doi: 10.1001/jama.2021.0507