Search Results - "ASHWORTH, JANE L"

The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis by Musleh, Mohammud, Bull, Adam, Linton, Emma, Liu, Jingshu, Waller, Sarah, Hardcastle, Claire, Clayton-Smith, Jill, Sharma, Vinod, Black, Graeme C, Biswas, Susmito, Ashworth, Jane L, Sergouniotis, Panagiotis I

“…Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for…”
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Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment by Lenassi, Eva, MD, PhD, Vassallo, Grace, MD, Kehdi, Elias, MD, Chieng, Alice S., MD, MSc, Ashworth, Jane L., MD, PhD

“…Linear scleroderma is a characteristic form of scleroderma that typically affects children. Ocular manifestations may be present, especially when the…”
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Monitoring compliance to topical therapy in children and young people with uveitis by Green, Elspeth K. Y., McGrath, Orlaith, Steeples, Laura, Ashworth, Jane L.

“…Background/Objectives Uveitis in children and young people (CYP) is a rare but potentially debilitating condition. Steroid eye drops are the first step in…”
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Paracentral Acute Middle Maculopathy in A Young Girl Treated with Interferon-Beta for Nasopharyngeal Carcinoma by Giuffrè, Chiara, Syed, Sara, Pockar, Sasa, Ashworth, Jane L, Steeples, Laura R

“…To describe a case of interferon-beta retinopathy associated with paracentral acute middle maculopathy A 15-year-old girl with Epstein-Barr virus-positive…”
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Clinical and genetic variability in children with partial albinism by Campbell, Patrick, Ellingford, Jamie M., Parry, Neil R. A., Fletcher, Tracy, Ramsden, Simon C., Gale, Theodora, Hall, Georgina, Smith, Katherine, Kasperaviciute, Dalia, Thomas, Ellen, Lloyd, I. Chris, Douzgou, Sofia, Clayton-Smith, Jill, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C. M., Sergouniotis, Panagiotis I.

“…Individuals who have ocular features of albinism and skin pigmentation in keeping with their familial background present a considerable diagnostic challenge…”
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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders by Lenassi, Eva, Clayton-Smith, Jill, Douzgou, Sofia, Ramsden, Simon C., Ingram, Stuart, Hall, Georgina, Hardcastle, Claire L., Fletcher, Tracy A., Taylor, Rachel L., Ellingford, Jamie M., Newman, William D., Fenerty, Cecilia, Sharma, Vinod, Lloyd, I. Chris, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C., Sergouniotis, Panagiotis I.

“…A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we…”
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Educational paper: Congenital and infantile cataract: aetiology and management by Chan, Wai H, Biswas, Susmito, Ashworth, Jane L, Lloyd, I. Christopher

“…Congenital cataract is the commonest worldwide cause of lifelong visual loss in children. Although congenital cataracts have a diverse aetiology, in many…”
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Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease by Taylor, Rachel L., PhD, Parry, Neil R.A., PhD, Barton, Stephanie J., BSc, Campbell, Christopher, BSc, Delaney, Claire M., MSc, Ellingford, Jamie M., MRes, Hall, Georgina, MSc, Hardcastle, Claire, BSc, Morarji, Jiten, MSc, BMBS, Nichol, Elisabeth J., DBO, Williams, Lindsi C., DBO, Douzgou, Sofia, PhD, MD, Clayton-Smith, Jill, MD(Res), FRCP, Ramsden, Simon C., PhD, FRCPath, Sharma, Vinod, FRCOphth, Biswas, Susmito, FRCOphth, Lloyd, I. Chris, FRCOphth, Ashworth, Jane L., PhD, FRCOphth, Black, Graeme C., DPhil, FRCOphth, Sergouniotis, Panagiotis I., PhD, FEBO

“…Purpose To assess the clinical usefulness of genetic testing in a pediatric population with inherited retinal disease (IRD). Design Single-center retrospective…”
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Mucopolysaccharidoses and the Eye by Ashworth, Jane L., Biswas, Susmito, Wraith, Ed, Lloyd, I. Chris

“…The mucopolysaccharidoses (MPSs) are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intra- and extra-cellular…”
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Bilateral multilayered retinal haemorrhages after a short distance accidental fall in an infant by Sadia, Rehana, Ashworth, Jane L

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Ocular manifestations as key features for diagnosing mucopolysaccharidoses by Summers, C. Gail, Ashworth, Jane L.

“…Diagnosis of mucopolysaccharidosis (MPS) requires awareness of the multisystem disease manifestations and their diverse presentation in terms of time of onset…”
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Optic neuropathy in methylmalonic acidemia and propionic acidemia by Martinez Alvarez, Lidia, Jameson, Elisabeth, Parry, Neil R A, Lloyd, Chris, Ashworth, Jane L

“…Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and…”
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Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders by Lenassi, Eva, Clayton-Smith, Jill, Douzgou, Sofia, Ramsden, Simon C., Ingram, Stuart, Hall, Georgina, Hardcastle, Claire L., Fletcher, Tracy A., Taylor, Rachel L., Ellingford, Jamie M., Newman, William D., Fenerty, Cecilia, Sharma, Vinod, Lloyd, I. Chris, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C., Sergouniotis, Panagiotis I.

“…A Correction to this paper has been published: https://doi.org/10.1038/s41436-020-01068-8…”
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Atypical presentation of CRB1 retinopathy by Morarji, Jiten, Lenassi, Eva, Black, Graeme C. M., Ashworth, Jane L.

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Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis by Fahnehjelm, Kristina T., Ashworth, Jane L., Pitz, Susanne, Olsson, Monica, Törnquist, Alba Lucia, Lindahl, Päivi, Summers, C. Gail

“… The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in several tissues…”
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Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis by Ferrari, Stefano, Ponzin, Diego, Ashworth, Jane L, Fahnehjelm, Kristina Teär, Summers, C Gail, Harmatz, Paul R, Scarpa, Maurizio

“…Ocular pathology is common in patients with mucopolysaccharidosis (MPS), a hereditary lysosomal storage disorder, where the eye as well as other tissues…”
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Amblyogenic factors in children with neurofibromatosis type 1 and their relation to the management of optic pathway gliomas by Gajdosova, Eva, Biswas, Susmito, Ashworth, Jane L, Lloyd, Christopher I

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Update on the management of neurometabolic disorders in children by Ashworth, Jane L, Summers, Gail, Lloyd, Chris, Fahnehjelm, Kristina T

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Fibrillin degradation by matrix metalloproteinases: identification of amino- and carboxy-terminal cleavage sites by Hindson, V.John, Ashworth, Jane L, Rock, Matthew J, Cunliffe, Sharon, Shuttleworth, C.Adrian, Kielty, Cay M

“…Fibrillin molecules form the structural framework of elastic fibrillin-rich microfibrils of the extracellular matrix. We have investigated the proteolysis of…”
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Ocular manifestations in the mucopolysaccharidoses - a review by Ashworth, Jane L, Kruse, Friedrich E, Bachmann, Björn, Tormene, Alma P, Suppiej, Agnese, Parini, Rossella, Guffon, Nathalie

“…Ocular manifestations are very common in all types of mucopolysaccharidoses (MPS) and often lead to visual impairment. They arise as a result of the…”
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