Journal Reviews

Visual prognosis in Irish Leber’s hereditary optic neuropathy

1 December 2022 | | EYE - Neuro-ophthalmology | 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 | | Paediatric Ophthalmology / Strabismus | 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...