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PRPF31-related retinitis pigmentosa and asymptomatic carriers
The authors present a study of 21 patients with variants in the PRPF31 gene classified as pathogenic or likely pathogenic. These variants are caused by autosomal dominant retinitis pigmentosa (RP-11). Between January 2020 and November 2021 patients underwent tests of...
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...
Saccades and contrast sensitivity in retinoblastoma survivors
The authors report a cross-sectional study, which recruited children aged 5 to 18 years old who completed treatment completion for retinoblastoma more than six months ago. Exclusion criteria included bilateral enucleation and pre-existing conditions associated with cognitive impairment. A total...
Referral patterns and pathways for intracranial hypertension
The authors present a retrospective case review of individuals with suspected raised intracranial pressure (ICP) over a 12-month period a single tertiary neuro-ophthalmology centre. Cases were categorised into four groups based on examination by neuro-ophthalmology; 1) referred after identification of...
Cost-effectiveness framework discussion for vision screening
The authors present a discussion paper on hypothetical, but representative, examples of post-referral costs that may result from different screening options up to the point of discharge from specific services. Data was taken from a recent (2019) systematic review (with...
Tumour characteristics influencing visual field outcomes
This retrospective study aimed to explore correlations between pituitary tumour characteristics which influenced visual field changes. Cases of transsphenoidal surgery from a six-year period resulting in a pathologic diagnosis of pituitary adenoma from a single centre were identified. Individuals were...
Could idebenone by the solution for treating dominant optic atrophy?
Dominant optic atrophy (DOA) is a disease of the retinal ganglion cells, with no current treatment options. In most cases, DOA is caused by a mutation in the OPA1 gene. The aim of this study was to evaluate the effect...
Acromegaly associated with enlargement of extraocular recti muscles
This retrospective case review aimed to evaluate the frequency and extent of extraocular muscle enlargement in cases of acromegaly at presentation. All new presentations of acromegaly diagnosis at a single tertiary centre over a five-year period were screened for inclusion....
Being more consistent with screening for convergence insufficiency
This prospective cases series aimed to identify the average values and sensitivity of clinical measurements of convergence to aid diagnosis of convergence insufficiency (CI). Children and adults presenting over a two-year period with symptoms including diplopia when reading, headache with...
Clinical and anatomical differences for heavy eye syndrome, highly myopic sagging eye syndrome, and sagging eye syndrome
The authors explored the mechanisms underlying the development of heavy eye syndrome (HES), highly myopic sagging eye syndrome (SES)-like, and SES with the aim to differentiate the three conditions clinically and anatomically to aid treatment decision-making. This was a retrospective...
