Visual prognosis in Irish Leber’s hereditary optic neuropathy
1 December 2022
| Claire Howard
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EYE - Neuro-ophthalmology
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Leber’s hereditary optic neuropathy, idebenone, inherited optic neuropathy, mtDNA, ophthalmic genetics, optic atrophy
Leber’s hereditary optic neuropathy (LHON) is an inherited optic neuropathy This paper presents a retrospective review of clinical data from patients with LHON presenting to an Irish tertiary referral ophthalmic hospital. Clinical and genetic characteristics were assessed for useful biomarkers...
Genetic profiles of primary strabismus
1 December 2018
| Fiona Rowe (Prof)
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Paediatric Ophthalmology / Strabismus
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esotropia, exotropia, genetics, pedigree analysis, primary concomitant strabismus
The authors explore the pedigree analysis of familial cases of primary concomitant strabismus (PCS) to unravel the genetic determinants of this strabismus. Of 2301 cases of PCS, 39 (1.7%) had familial clustering. This study recruited 18 families with esotropia and...
Hereditary profile of retinal detachment
1 August 2016
| Huw Edward Oliphant
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Retina / Uvea / Vitreous
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gene, genetics, idiopathic, non-syndromic, rhegmatogenous retinal detachment, syndromic
This review sought to clarify some of the heritable elements of rhegmatogenous retinal detachment (RRD). The familial element of RRD is well established, with the sibling recurrence risk ratio being 2.1 (Mitry and colleagues), and the parent-offspring recurrence risk ratio...
