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Bosch-Boonstro-Schaaff optic atrophy syndrome (BBSOAS) NR2F1 mutation
An experienced ophthalmologist can make an anatomical diagnosis of childhood visual impairment based upon the surgical sieve, i.e., congenital and acquired. But an ophthalmologist cannot work in isolation to make an aetiological diagnosis – one would require the help of...
Cytokine levels in vitreous fluid in patients with pathological myopia
Pathological myopia (PM) is a leading cause of irreversible visual impairment worldwide, and efforts are dedicated to the study of its underlying mechanisms. Axial extension of the eyeball is regulated via a cascade of biochemical molecules that are initiated in...
CHARGE syndrome features
CHARGE syndrome (CS) includes coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies and ear anomalies. The authors developed an original self-administered questionnaire (VISIOcharge) for patients with CS and used it to evaluate...
FEVR characteristics
The authors report a series of 16 cases of familial exudative vitreoretinopathy (FEVR) in Northern Ireland (NI) to characterise the genetic patterns and identify other common characteristics relevant for current and future practice. This was a retrospective study including 12...What's trending Aug/Sep 2021
A round-up of the eye-related hot topics that have been trending on social media over the last few weeks. #algae #optogenetics Scientists in Paris have used optogenetics to partially restore sight in a blind man’s eye who was diagnosed with...
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...
CD40L activation of human RPE cells
Age-related macular degeneration (AMD) is the leading cause of reduced visual acuity in the elderly worldwide. The risk factors involved in AMD include smoking and diet, while genetics have been shown to have a significant role. Recently a link between...
Chronic lymphocytic leukaemia (CLL) of the lacrimal sac
The authors present a case series of three patients with known CLL, two of which presented with mass and epiphora and one case with epiphora alone. All three patients had initially being diagnosed and were treated for chronic dacryocystitis. Histopathological...
Prognostication for uveal melanoma
The authors highlight the importance of using all available data in the prognostication of uveal melanoma (UM). Over recent years a number of molecular tests have emerged to allow clinicians to predict metastatic potential of UM. However, concordance between techniques...
Driving with retinitis pigmentosa
The authors present a study of 228 consecutive patients with a clinical or genetic diagnosis of retinitis pigmentosa. Data was collected prospectively between January 2012 and October 2022 in Perth, Australia. The study aimed to determine the proportion of patients...
Association between serum 25-hydroxyvitamin D levels and age-related cataracts
Cataractogenesis occurs as a result of ageing, smoking, exposure to UV radiation and genetic predisposition. Antioxidants can reduce the cataract risk as found in animal models and humans and vitamin D is one of them. This epidemiological study based in...
