Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

Glaucoma and Ocular Pressure

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

Ophthalmology.

Siggs OM, Souzeau E, Taranath DA, Dubowsky A, Chappell A, Zhou T, Javadiyan S, Nicholl J, Kearns LS, Staffieri SE, Narita A, Smith JEH, Pater J, Hewitt AW, Ruddle JB, Elder JE, Mackey DA, Burdon KP, Craig JE

doi: 10.1016/j.ophtha.2019.12.024.

Glaucoma and Ocular Pressure

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

JAMA Ophthalmol.

Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, Rait JL, Narita A, Mauri L, Del Longo A, Reis A, Chappell A, Kearns LS, Staffieri SE, Elder JE, Ruddle JB, Hewitt AW, Burdon KP, Mackey DA, Craig JE

doi: 10.1001/jamaophthalmol.

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Macular Diseases

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration

Ophthalmic Genet.

Borooah S, Stanton CM, Marsh J, Carss KJ, Waseem N, Biswas P, Agorogiannis G, Raymond L, Arno G, Webster AR

doi: 10.1080/13816810.

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Further PublicationsCataracts

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract

★ 1 Recommended by Prof. Dr emer. Josef Flammer, Faculty Member

JAMA Ophthalmol

Rechsteiner D, Issler L, Koller S, Lang E, Bähr L, Feil S, Rüegger CM, Kottke R, Toelle SP, Zweifel N, Steindl K, Joset P, Zweier M, Suter AA, Gogoll L, Haas C, Berger W, Gerth-Kahlert C

doi: 10.1001/jamaophthalmol.2021.0385

Cornea and Corneal DiseasesFurther Publications

c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1

Cornea

Janeschitz-Kriegl L, Kamdar D, Quinodoz M, Kaminska K, Folcher M, György B, Meyer P, Wild A, Escher P, Scholl HPN, Rivolta C, Goldblum D

doi: 10.1097/ICO.0000000000002843

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

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

Mol Vis.

Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ; NIHR-BioResource Rare Diseases Consortium; U.K. Inherited Retinal Dystrophy Consortium

Further Publications

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

Ophthalmology.

Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, Moosajee M, Brookes J, Papadopoulos M, Khaw PT, Cullup T, Jenkins L, Dahlmann-Noor A, Sowden JC

doi: 10.1016/j.ophtha.2018.12.050.

Blindness and Vision ImpairmentGlaucoma and Ocular PressureOcular Oncology

Primary Congenital and Developmental Glaucomas

Hum Mol Genet.

Lewis C, Hedberg-Buenz A, DeLuca AP, Stone EM, Alward WLM, Fingert JH

doi: 10.1093/hmg/ddx205.

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