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28 results on '"Stephenson KAJ"'

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1. Risk of Neurotoxicity with Multiple General Anaesthetics for Examination Under Anaesthesia in Paediatric Ophthalmology – A Cause for Concern?

2. Cabozantinib-Associated Exudative Retinal Detachment and Choroiditis: A Case Report.

3. Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants.

4. The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations-A Case-Based Review.

5. Polarization-Diversity Optical Coherence Tomography Assessment of Choroidal Nevi.

6. Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.

7. Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.

8. Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups.

9. MFRP -Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.

12. Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

13. Postpartum haemorrhage associated choroidopathy.

14. Insidious ocular surface lesion in an 81-year-old woman.

15. The Natural History of Leber's Hereditary Optic Neuropathy in an Irish Population and Assessment for Prognostic Biomarkers.

17. Colonic adenocarcinoma presenting as monocular metamorphopsia.

18. Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.

22. Retinal imaging via the implantable miniature telescope.

23. Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.

27. Monocular syphilitic uveitis.

28. A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics.

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