Detalhe da pesquisa
1.
Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups.
Int J Mol Sci
; 24(2)2023 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36674591
2.
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055178
3.
The Natural History of Leber's Hereditary Optic Neuropathy in an Irish Population and Assessment for Prognostic Biomarkers.
Neuroophthalmology
; 46(3): 159-170, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35574161
4.
Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants.
BMJ Open Ophthalmol
; 9(1)2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471715
5.
Long-term anatomical and functional findings of solar maculopathy.
Ir J Med Sci
; 193(1): 435-441, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37380832
6.
Asymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A.
Ophthalmic Genet
; : 1-5, 2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38853699
7.
The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations-A Case-Based Review.
Life (Basel)
; 14(1)2024 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38255722
8.
Risk of Neurotoxicity with Multiple General Anaesthetics for Examination Under Anaesthesia in Paediatric Ophthalmology - A Cause for Concern?
Clin Ophthalmol
; 17: 291-302, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711257
9.
Differentiating primary dry eye disease from ocular neuropathic pain: implications for symptom management.
Clin Exp Optom
; 106(6): 605-611, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36004515
10.
Presentations to eye emergency departments with flashes and floaters differ dependent on incident solar radiation.
Ir J Med Sci
; 192(5): 2527-2532, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658378
11.
Polarization-Diversity Optical Coherence Tomography Assessment of Choroidal Nevi.
Invest Ophthalmol Vis Sci
; 64(14): 6, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930688
12.
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Invest Ophthalmol Vis Sci
; 64(10): 23, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37466950
13.
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Sci Rep
; 13(1): 9380, 2023 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296172
14.
Insidious ocular surface lesion in an 81-year-old woman.
BMJ Case Rep
; 15(3)2022 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246440
15.
Management of Keratoconus in Down Syndrome and Other Intellectual Disability.
Cornea
; 41(4): 456-461, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35244626
16.
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Genes (Basel)
; 13(4)2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456422
17.
MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.
Case Rep Ophthalmol
; 13(3): 1015-1023, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36605040
18.
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.
Orphanet J Rare Dis
; 16(1): 200, 2021 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33952326
19.
A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics.
Eye (Lond)
; 34(4): 690-694, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527767
20.
Rhegmatogenous retinal detachments: primary reattachment rates and visual outcomes over a 4-year period.
Ir J Med Sci
; 189(1): 355-363, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31418155