Ophthalmia neonatorum in a tertiary referral children's hospital: A retrospective study.

Objectives: The purpose of this study was to examine the aetiology, investigation and management of ophthalmia neonatorum (ON) presenting to a tertiary referral children's hospital over 5 years.

Methods: The eye swab data of all neonates presenting to Children's Health Ireland at Temple Street (Dublin, Ireland) between 1st January 2013 and 3rd September 2018 was analysed. The medical records of all patients with positive eye swab results were retrospectively reviewed.

Paradoxical fall in proteinuria during pregnancy in an LCAT-deficient patient-A case report.

A 29-year-old lady was diagnosed with lecithin:cholesterol acyltransferase (LCAT) deficiency having presented with bilateral corneal clouding, severely reduced high density lipoproteins cholesterol, and proteinuria. She is a compound heterozygote with two LCAT gene mutations, one of which is novel, c.321C>A in exon 3.

Treatment of retinopathy of prematurity in Northern Ireland, 2000-2011: a population-based study.

Purpose: To evaluate the incidence of treatment-requiring retinopathy of prematurity (ROP) over a 12-year-period in Northern Ireland.

Methods: The medical records of all infants treated for ROP from January 2000 to December 2011 were retrospectively reviewed and cross-referenced with the Neonatal Intensive Care Outcomes Research and Evaluation (NICORE) database.

Results: The Northern Ireland population data showed an increase in the number of live births from 2000 to 2011.

The use of Pentacam in the assessment of true exfoliation of the lens capsule.

Purpose: To highlight the use of Pentacam in the identification of true exfoliation of the lens capsule.

Methods: A 72-year-old woman presented for assessment of bilateral cataracts. An unusual appearance was noted in the right eye.

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Purpose: To present a detailed phenotypic and molecular study of a series of 18 patients from 11 families with retinal dystrophies consequent on mutations in the cone-rod homeobox (CRX) gene and to report a novel phenotype.

Methods: Families were ascertained from a tertiary clinic in the United Kingdom and enrolled into retinal dystrophy studies investigating the phenotype and molecular basis of inherited retinal disease. Eleven patients were ascertained from the study cohorts and a further seven from investigation of affected relatives.

Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa.

Background: To determine the role of rhodopsin (RHO) gene mutations in patients with sector retinitis pigmentosa (RP) from Northern Ireland.

Design: A case series of sector RP in a tertiary ocular genetics clinic.

Participants: Four patients with sector RP were recruited from the Royal Victoria Hospital (Belfast, Northern Ireland) and Altnagelvin Hospital (Londonderry, Northern Ireland) following informed consent.

Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect.

We present an update on the ophthalmic status of a female patient with biotinidase deficiency who has attended our clinic for over 30 years. She is the only reported case of juvenile-onset glaucoma associated with biotinidase deficiency. Her intraocular pressure, optic nerve appearance, and visual field defect have, however, remained stable throughout her follow-up.

Amniotic band syndrome associated with an atypical iris and optic nerve defect.

We report the case of an 8-year-old boy who presented with right cleft lip and palate, left Tessier number 3 and 11 clefts, and limb abnormalities because of amniotic band syndrome. He was found to have an atypical iris and optic disk nasal defect and a right-sided ptosis, which have not been previously reported with amniotic band syndrome.

Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.

Non-syndromic familial thoracic aortic aneurysms and dissections (TAAD) are inherited in an autosomal dominant manner. We report a missense mutation in the smooth muscle α-actin (ACTA2; MIM*102620) gene in a 3 generational family from Northern Ireland in which iris flocculi were an ocular marker of the disease.