Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Jay E, Self"'
Autor:
Aida Sanchez-Bretano, Eloise Keeling, Jennifer A. Scott, Savannah A. Lynn, Sudha Priya Soundara-Pandi, Sarah L. Macdonald, Tutte Newall, Helen Griffiths, Andrew J. Lotery, J. Arjuna Ratnayaka, Jay E. Self, Helena Lee
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-19 (2023)
Abstract l-DOPA is deficient in the developing albino eye, resulting in abnormalities of retinal development and visual impairment. Ongoing retinal development after birth has also been demonstrated in the developing albino eye offering a potential t
Externí odkaz:
https://doaj.org/article/6f488d00eb9a4864896e7ff1dbd57048
Autor:
Siying Lin, Aida Sanchez-Bretaño, Joseph S. Leslie, Katie B. Williams, Helena Lee, N. Simon Thomas, Jonathan Callaway, James Deline, J. Arjuna Ratnayaka, Diana Baralle, Melanie A. Schmitt, Chelsea S. Norman, Sheri Hammond, Gaurav V. Harlalka, Sarah Ennis, Harold E. Cross, Olivia Wenger, Andrew H. Crosby, Emma L. Baple, Jay E. Self
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
Abstract Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in Caucasians, accounting f
Externí odkaz:
https://doaj.org/article/8ddc9109fec74dd780fb8658772b15c8
Autor:
Luke O’Gorman, Chelsea S. Norman, Luke Michaels, Tutte Newall, Andrew H. Crosby, Christopher Mattocks, Angela J. Cree, Andrew J. Lotery, Emma L. Baple, J. Arjuna Ratnayaka, Diana Baralle, Helena Lee, Daniel Osborne, Fatima Shawkat, Jane Gibson, Sarah Ennis, Jay E. Self
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Abstract Nystagmus is a disorder of uncontrolled eye movement and can occur as an isolated trait (idiopathic INS, IINS) or as part of multisystem disorders such as albinism, significant visual disorders or neurological disease. Eighty-one unrelated p
Externí odkaz:
https://doaj.org/article/b9cd1a136f474a9fb875e2845e84278d
Publikováno v:
Ophthalmology and Therapy, Vol 7, Iss 2, Pp 323-332 (2018)
Abstract Introduction Amblyopia therapy appears to be most effective in children under the age of 7 years, but results from randomized control trials (RCTs) have shown that occlusion therapy and/or atropine penalization therapy may improve visual acu
Externí odkaz:
https://doaj.org/article/531ce036937d479ebcb8a939b5c3e590
Publikováno v:
Strabismus. 30:196-199
Due to the low incidence of sixth cranial nerve palsies in children, there has been limited evidence published on this subject, especially from a population based within the UK. The incidence of etiologies has been found to vary significantly within
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48d36a716555352a54378e871da07a5c
https://doi.org/10.1080/09273972.2022.2138919
https://doi.org/10.1080/09273972.2022.2138919
Autor:
Chelsea S. Norman, Luke O’Gorman, Jane Gibson, Reuben J. Pengelly, Diana Baralle, J. Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, Jay E. Self
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotyp
Externí odkaz:
https://doaj.org/article/eb88692a95b64c0eb747fffe226ced8a
Autor:
Rebecca Mawby, Diana Baralle, Jay E. Self, Deciphering Developmental Disorders Study, Gabriella Gazdagh
Publikováno v:
American Journal of Medical Genetics Part A. 188:900-906
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a rare congenital syndrome characterized by a range of phenotypes including optic atrophy and intellectual disability among other features. Pathogenic variants in the NR2F1 (nuclear recepto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86deb34a3654cef922b7272d4d090c9a
https://doi.org/10.1002/ajmg.a.62569
https://doi.org/10.1002/ajmg.a.62569
Autor:
Daniel Osborne, Aimee Steele, Megan Evans, Helen Ellis, Roshni Pancholi, Tomos Harding, Jessica Dee, Rachel Leary, Jeremy Bradshaw, Elizabeth O’Flynn, Jay E Self
BackgroundHome visual acuity tests could ease pressure on ophthalmic services by facilitating remote review of a variety of patients. Home tests may have further utility in giving service users frequent updates of vision outcomes during therapy, iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bfb3093e38843d46818468fdbb885a15
https://doi.org/10.1101/2022.10.14.22281044
https://doi.org/10.1101/2022.10.14.22281044
Autor:
Fabiola, Ceroni, Daniel, Osborne, Samuel, Clokie, Dorine A, Bax, Emma J, Cassidy, Matt J, Dunn, Christopher M, Harris, Jay E, Self, Nicola K, Ragge
Publikováno v:
European journal of human genetics : EJHG.
Nystagmus (involuntary, rhythmical eye movements) can arise due to sensory eye defects, in association with neurological disorders or as an isolated condition. We identified a family with early onset nystagmus and additional neurological features car
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::407291f32e1488a2191f05b942c3002a
https://pubmed.ncbi.nlm.nih.gov/36207621
https://pubmed.ncbi.nlm.nih.gov/36207621
Autor:
Susmito Biswas, Manoj Parulekar, D Hildebrand, Ameenat Lola Solebo, Jane Ashworth, Ian Christopher Lloyd, Joseph Abbott, A Dev Borman, E O'Flynn, R McClenaghan, Rebecca Taylor, Jay E. Self
Publikováno v:
Eye
Congenital and childhood cataracts are uncommon but regularly seen in the clinics of most paediatric ophthalmology teams in the UK. They are often associated with profound visual loss and a large proportion have a genetic aetiology, some with signifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::580b778e18f550c27c2bdff9e44a1f8c
https://doi.org/10.1038/s41433-020-1115-6
https://doi.org/10.1038/s41433-020-1115-6