Congenital cataracts presenting as a childhood squint

Autor: Shanel Sharma, Chloe Lafferty, G. G. W. Adams

Publikováno v: British and Irish Orthoptic Journal, Vol 10, Pp 64-65 (2012)

Aim: A timely reminder that a small posterior subcapsular cataract could present with a squint. Methods: A case series is reported of 4 patients who were referred to the paediatric ophthalmology service for management of a squint. Results: In all 4 c

Externí odkaz: https://doaj.org/article/baeebc314e3046af828734beafa7145d

The UK practice of Anti-VEGF therapy for treatment of retinopathy of prematurity

Autor: Aisling Higham, Shahanaz B Ahmed, Chetan K. Patel, Alan Mulvihill, G G W Adams, T K J Chan

Publikováno v: Eye (Lond)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa7fae210e86d8a14a82f7db6895119c
https://pubmed.ncbi.nlm.nih.gov/33879853

Evolving trends in strabismus following retinal surgery: is there still a role for botulinum toxin?

Autor: Maria Theodorou, S Moorthy, Joanne Hancox, G G W Adams

Publikováno v: Strabismus. 28(2)

Purpose Ocular motility disturbances following retinal detachment surgery are well documented, resulting in ocular misalignment and disabling diplopia. Interestingly, there has been a downward trend over the last decade across the United Kingdom with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1594767ccd7a857433d6bb40b138ad65
https://pubmed.ncbi.nlm.nih.gov/32396025

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction

Autor: Kathleen A. Williamson, Joseph A. Marsh, Gabriele Gillessen-Kaesbach, Simon Bodek, H Nikki Hall, Shane McKee, Patrick Edery, Liusaidh J Owen, Dragana Josifova, Françoise Meire, Jane A. Hurst, Joke B. G. M. Verheij, G G W Adams, Richard Fisher, Veronica van Heyningen, Benjamin J Livesey, David R. FitzPatrick, Charlotte Reiff, Bruce Castle, Edward S. Tobias, Birgit Lorenz, Alexander T Deng, Isabel M. Hanson, Michael P. Clarke, Marjolaine Willems, Anthony T. Moore, Jay E. Self, Michael W. Parker, Denise Williams, Elise Heon, Patrick Calvas

Publikováno v: Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams, G G W, Bodek, S, Calvas, P, Castle, B, Clarke, M, Deng, A T, Edery, P, Fisher, R, Gillessen-Kaesbach, G, Héon, E, Hurst, J, Josifova, D, Lorenz, B, McKee, S, Meire, F, Moore, A T, Parker, M, Reiff, C, Self, J, Tobias, E S, Verheij, J B G M, Willems, M, Williams, D, Van Heyningen, V, Marsh, J A & FitzPatrick, D R 2019, ' Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0685-9
Genetics in Medicine
Genetics in medicine

Purpose: Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by altering the affinity an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444e2433a7826bd8fdab584eb7721334
https://www.pure.ed.ac.uk/ws/files/120428082/s41436_019_0685_9.pdf

Can we reduce the burden of the current UK guidelines for retinopathy of prematurity screening?

Autor: Wen Xing, Cathy Williams, Catey Bunce, Annegret Dahlmann-Noor, Neena Modi, G G W Adams

Publikováno v: Adams, G G W, Williams, C E M, Modi, N, Xing, W, Bunce, C, Dahlmann-Noor, A 2017, ' Can we reduce the burden of the current UK guidelines for retinopathy of prematurity screening? ', Eye . https://doi.org/10.1038/eye.2017.163
Adams, G G W, Williams, C, Modi, N, Xing, W, Bunce, C, Dahlmann-Noor, A 2017, ' Can we reduce the burden of the current UK guidelines for retinopathy of prematurity screening? ', Eye (London, England) . https://doi.org/10.1038/eye.2017.163

Can we reduce the burden of the current UK guidelines for retinopathy of prematurity screening?

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10a070d32982fb290f9cbffa1ac49463
https://pubmed.ncbi.nlm.nih.gov/28799564