Journal Reviews

British Journal of Ophthalmology cover image.

Human leucocyte antigen association of patients with Stevens-Johnson syndrome in Han Chinese

1 December 2022 | | Cornea / External Eye Disease | conjunctiva, cornea, drugs, genetics, ocular surface

This is a retrospective study of the human leucocyte antigen (HLA) polymorphism pattern of cold medicine-induced patients with Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) (n=33) and 98 control patients recruited between 2016-2017 in Taiwan. Severe ocular complications (SOC) was...

Visual prognosis in Irish Leber’s hereditary optic neuropathy

1 December 2022 | | 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...

Hereditary profile of retinal detachment

1 August 2016 | | Retina / Uvea / Vitreous | 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...