A National Survey of the Management of Congenital Nasolacrimal Duct Obstruction in the United Kingdom

Autor: Robert J. Morris, Narman Puvanachandra, Caroline J MacEwen, S. Trikha, Peter R. Hodgkins

Publikováno v: Journal of Pediatric Ophthalmology & Strabismus. 47:76-80

Purpose: To survey national variation in the management of congenital nasolacrimal duct obstruction, particularly the timing of intervention and the use of nasolacrimal intubation, nasal endoscopy, and assistance from an ear, nose, and throat surgeon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7df5a3a76de0467d777d945e3023c93c
https://doi.org/10.3928/01913913-20100308-04

Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3

Autor: S Hammans, Jay E. Self, Helen Griffiths, C Mercer, E M J Boon, Peter R. Hodgkins, F Shawkat, Andrew J. Lotery, M Murugavel

Publikováno v: Self, J, Mercer, C, Boon, E M J, Murugavel, M, Shawkat, F, Hammans, S, Hodgkins, P, Griffiths, H & Lotery, A 2009, ' Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3 ', Eye, vol. 23, no. 12, pp. 2251-2255 . https://doi.org/10.1038/eye.2008.389
Eye, 23(12), 2251-2255. Nature Publishing Group

PurposeMutations in the 1A-subunit of the brain P/Q-type calcium channel gene CACNA1Aare responsible for spinocerebellar ataxia type 6 (SCA6), familial haemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). Considerable clinical and genetic ove

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d87ad57caacb8471f4aba6e0fcfa1440
https://research.vumc.nl/en/publications/fe3c86d9-0acf-424a-8754-4190837e68ae

Fibromatosis (desmoid tumor) involving the orbit and cheek

Autor: Simon A. G. Rogers, Piers Rowlandson, Jan Kohler, Peter R. Hodgkins, Nishani Amerasinghe

Publikováno v: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 10(5)

Desmoid tumors are benign, noninflammatory tumors that consist of infiltrative fibrotic tissue arising in muscloaponeurotic structures. They are rare lesions, representing < 3% of all soft-tissue tumors. Although benign, they can cause significant mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06bb4474f850e0a321261e9d470f98e2
https://pubmed.ncbi.nlm.nih.gov/17070488

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort

Autor: Nishani Amerasinghe, Peter R. Hodgkins, Viv K. Maloney, Claire L. S. Turner, John C K Barber, Katherine Lachlan, I. Karen Temple

Publikováno v: European journal of human genetics : EJHG. 13(6)

The underlying cause of the multiple congenital anomalies/mental retardation syndrome Kabuki syndrome (KS, OMIM 147920) has not yet been established. We identified seven patients who fulfilled the classical clinical criteria for this syndrome and und

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b000befd651f0f9c4e13087d293ff550
https://pubmed.ncbi.nlm.nih.gov/15785777

Persistent Fetal Vasculature Associated with Orbital Lymphangioma

Autor: Catherine S. Marsh, Christopher P.R. Williams, Peter R. Hodgkins

Publikováno v: Journal of American Association for Pediatric Ophthalmology and Strabismus. 10:285-286

Persistent fetal vasculature (PFV), also known as persistent hyperplastic primary vitreous (PHPV), is a failure of regression of the primary vitreous, which usually occurs in isolation. Orbital lymphangiomas present in early life with eyelid swelling

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d76b582c5906ee8ccbb75a4a97e5c599
https://doi.org/10.1016/j.jaapos.2006.01.215