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Effects of ML4 on the eye
Mucolipidosis type IV (ML4) is an autosomal recessive lysosomal storage disease and is caused by variants of the MC0LN1 gene. It often presents in young individuals with eye and ocular adnexa issues. The authors present a case report and literature...
Leber’s hereditary optic neuropathy outcomes in an Indian population
A large cohort study in an Indian population is presented, with clinical and genetic profile analysis of patients with Leber’s hereditary optic neuropathy (LHON) treated over a five-year period. The study included 157 patients; 143 male, 14 female (10.2:1 ratio)...
Unilateral cataract extraction outcomes in older children compared to two studies with younger cohorts
The authors present a retrospective study of children undergoing cataract surgery between the ages of two and seven-years-old at one centre, over a 24-year period. Data including demographics, ocular history, ophthalmic findings, operative reports, adverse events, and record of re-operations...
Germline testing for uveal melanoma
The authors present a study of 114 consecutive patients presenting with uveal melanoma. Between 1 December 2019 and 1 November 2021 all patients over 18-years-old presenting to their centre with uveal melanoma were offered germline testing for variants in BAP1,...
How common is ocular trauma in children and what are the clinical features?
The authors present a multicenter retrospective case review with the aim of reporting the incidence and characteristics of paediatric ocular trauma. Records for individuals aged 18 and under with a diagnosis of globe, orbit or adnexal injury over a 10-year...
What are the features of facial nerve palsies in children?
The aim if this study was to report ophthalmic related findings and complications in children with facial palsy. Medical records from a tertiary centre were retrospectively searched for children 16 years and under with a diagnosis of facial palsy, over...
Providing well-developed education materials can improve follow-up attendance for retinopathy of prematurity screening
he authors present a repeated measures study with parents of children at risk of developing retinopathy of prematurity (ROP). Inclusion criteria for the study was parents with children born at <32 weeks or with a birth weight under 1.5kg. Participants...
Clinical features of basic acquired nonaccommodative esotropia requiring surgery
Basic acquired nonaccommodative esotropia (BANAET) is a concomitant esotropia occurring after the age of six months without significant refractive error or accommodative element. Esotropia is similar for both near and distance and children have prior binocular single vision. The purpose...
Variability between handheld fundus cameras
Handheld fundus cameras offer the potential of enhancing opportunities for telemedicine diagnosis of glaucoma, especially in underserved settings, as they are less bulky, inexpensive and don’t require skilled personnel compared to traditional table-mounted retinal cameras. This study aimed to compare...
How common is empty sella in neuro-ophthalmology patients not suspected of raised intracranial pressure
The study aimed to assess how common the presence of empty / partially empty sella is amongst neuro-ophthalmology patients undergoing magnetic resonance imaging (MRI) excluding for papilledema and raised intracranial pressure (ICP). The study retrospectively reviewed case records of consecutive...
