Search Results - "Brosnahan, Donal"

Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Transplantation: The Irish Experience by Stepien, Karolina M., Treacy, Max, Katiri, Roulla, Treacy, Eileen P., Pastores, Gregory, Sheerin, Alison, Brosnahan, Donal, Crushell, Ellen, O’Byrne, James J.

“…Abstract Mucopolysaccharidosis type IH (MPS IH) is caused by homozygous IDUA gene pathogenic variants. This results in deficiency of the enzyme α-L-iduronidase…”
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Ophthalmic Manifestations of Vitamin A and D Deficiency in Two Autistic Teenagers: Case Reports and a Review of the Literature by Duignan, Emma, Kenna, Paul, Watson, Rosemarie, Fitzsimon, Susan, Brosnahan, Donal

“…We describe the cases of 2 autistic children with ophthalmic and systemic manifestations of vitamin A deficiency due to food faddism. Although vitamin A…”
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Central corneal thickness and its relationship to intraocular pressure in mucopolysaccararidoses-1 following bone marrow transplantation by Connell, Paul, MRCOphth, McCreery, Kathryn, FRCS, Doyle, Aoife, FRCS, Darcy, Fiona, MRCP, O’Meara, Anne, MRCP, Brosnahan, Donal, FRCS

“…Purpose To examine the ocular findings in mucopolysaccaridoses-1 (MPS-1) and the relationship between intraocular pressure (IOP) and central corneal thickness…”
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Bilateral optic disk swelling in the 4q34 deletion syndrome by Connell, Paul, MRCOphth, Brosnahan, Donal, FRCOphth, FRCS, Dunlop, Adam, MD, Reardon, William, MD, PhD

“…Terminal deletion of chromosome 4q is a genetic abnormality associated predominantly with cardiac abnormalities, abnormal facial features, and developmental…”
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Paediatric cataract in the uveitis setting by O’Rourke, Micheal, McCreery, Kathryn, Kilmartin, Dara, Brosnahan, Donal

“…Background/aims: Cataract formation is common in uveitis and is visually more threatening in the paediatric cohort due to the risk of amblyopia. In addition,…”
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Characterization of optical coherence topography findings in Kenny-Caffey Syndrome by Timoney, Peter, MBBCh, Darcy, Fiona, MBBCh, McCreery, Kathryn, MB, FRCOpth, FRCSI, Reardon, William, MD, MRCPI, DCH FRCPCH, FRCP (Lond) CFH, Brosnahan, Donal, MB, DCH, FRCS, FRCOpth

“…An unusual congenital syndrome was first reported in 1966 by Kenny and Linarelli, who described two patients with dwarfism, cortical thickening of the long…”
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An evaluation of the safety and effectiveness of telephone triage in prioritising patient visits to an ophthalmic emergency department — the impact of COVID-19 by Hanrahan, Glynis, Ennis, Cathriona, Conway, Marcus, Murtagh, Patrick, Brosnahan, Donal

“…Background During the COVID-19 crisis, a new nurse and doctor-led telephone triage model of care was evaluated as a method of prioritising essential visits to…”
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Migration to aphakia and contact lens treatment is the trend in the management of unilateral congenital cataract in Britain and Ireland by McAnena, Lisa, McCreery, Kathryn, Brosnahan, Donal

“…Background The Infant Aphakia Treatment Study (IATS) compared the treatment of unilateral cataract in infants aged 1–6 months with primary intraocular lens…”
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Reply by McSwiney, Terence, Power, Barry, Murphy, Conor C., Brosnahan, Donal, Power, William

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Reply by McSwiney, Terence, Power, Barry, Murphy, Conor C., Brosnahan, Donal, Power, William

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Safety and Efficacy of Supratarsal Triamcinolone for Treatment of Vernal Keratoconjunctivitis in Ireland by McSwiney, Terence J, Power, Barry, Murphy, Conor C, Brosnahan, Donal, Power, William

“…PURPOSE:To describe the clinical features, risk factors, and treatment outcomes after supratarsal injection of triamcinolone for vernal keratoconjunctivitis…”
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Retinal hemorrhages in meningococcal septicemia by Dinakaran, Subramanian, Chan, Tin K.J., Rogers, Neil K., Brosnahan, Donal M.

“…Purpose: Meningococcal septicemia is associated with coagulopathy and hemorrhagic tendency. We carried out this study to determine the incidence of retinal…”
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Type VI syndactyly with skeletal dysplasia: a new syndrome? by Sasaki, Erina, Phelan, Ethna, Brenner, Clare, Brosnahan, Donal, Reardon, William

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The British Infantile and Childhood Glaucoma (BIG) Eye Study by Papadopoulos, Maria, Cable, Noriko, Rahi, Jugnoo, Khaw, Peng Tee, BIG Eye Study Investigators

“…Pediatric glaucoma is a rare, potentially blinding condition, yet, in the United Kingdom, there is a paucity of contemporary epidemiologic and clinical data…”
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Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation by Gleeson, Mary, O'Marcaigh, Aengus, Cotter, Melanie, Brosnahan, Donal, Vulliamy, Tom, Smith, Owen P.

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Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria by Casey, Jillian, McGettigan, Paul, Brosnahan, Donal, Curtis, Emma, Treacy, Eileen, Ennis, Sean, Lynch, Sally Ann

“…Abstract We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of…”
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Reply by McSwiney, Terence, Power, Barry, Murphy, Conor C, Brosnahan, Donal, Power, William

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Reply by McSwiney, Terence, Power, Barry, Murphy, Conor C, Brosnahan, Donal, Power, William

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Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF 2 mutation by Gleeson, Mary, O'Marcaigh, Aengus, Cotter, Melanie, Brosnahan, Donal, Vulliamy, Tom, Smith, Owen P.

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A Diagnostic Quartet in Leptomeningeal Infiltration of the Optic Nerve Sheath by McFadzean, Robert, Brosnahan, Donal, Doyle, David, Going, James, Hadley, Donald, Lee, William

“…A rare case of optic leptomeningeal carcinomatosis secondary to a rectal adenocarcinoma is recorded. The presentation of rectal disease with blindness is…”
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