You searched for "Gene"
Assessing and treating achromatopsia
This literature review considers clinical characteristics (pendular nystagmus, poor visual acuity, lack of colour vision and marked photophobia), genetics (autosomal recessive disease, with CNGA3, CNGB3, GNAT2, PDE6C, PDE6H and ATF6 gene mutations), diagnostic options (OCT and fundus auto fluorescence), and...
Evaluation of ectopia lentis et pupillae (ELP)
The ADAMTSL4 gene encodes proteins for cellular adhesion, angiogenesis, nervous system development and anterior / posterior segment structures. This case report describes a four-year-old female with diagnosis at referral of ELP. A three-generation pedigree was obtained and was negative for...
Changes in the prevalence of myopia in middle-aged caucasian Australians compared to UK biobank
This article compares rates of myopia and high myopia in large cohorts of caucasian Australians from the Busselton Healthy Ageing Study, the urban Gen1 of the Raine Study, the Blue Mountains Eye study and Melbourne Visual Impairment Project. The former...
Protecting retinal ganglion cells
Glaucoma is considered to be a heterogeneous group of conditions giving retinal ganglion cells (RGC) damage. Lowering intraocular pressure (IOP) reduces the risk of progressive RGC loss in glaucoma. Regeneration of the optic nerve has been shown to restore some...
Bardet Biedl refractive error
This is a retrospective cross-sectional study of 45 patients with genetically diagnosed Bardet Biedl syndrome. Patients with biallelic defects in any gene known to cause Bardet Biedl syndrome were eligible for inclusion. Patients underwent cycloplegic refraction and keratometry. The mean...Genetic therapy gives infants life-changing improvements in sight
Four young children have gained life-changing improvements in sight following treatment with a pioneering new genetic medicine through Moorfields Eye Hospital and UCL Institute of Ophthalmology, with the support of MeiraGTx. The children were born with a severe impairment to...An update on inherited retinal disorders (part 2): Approaches to therapy for IRDs
Part 1 of this topic can be found here There are currently no proven cures for inherited retinal disease (IRD). However, multiple avenues of research are being investigated to better understand disease mechanisms and trial potential therapies that may slow...
Transfected RPE cells inhibit AMD in rats
Age-related macular degeneration (AMD) is a leading cause of blindness in the elderly. Wet AMD is characterised by choroidal neovascularisation, new vessels into the retina, leading to leakage and tissue damage. Many proangiogenic factors particularly vascular endothelial growth factor (VEGF)...
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,...Heidelberg Engineering Celebrates Eye2Gene™ AI Breakthrough in Precision Ophthalmology
Heidelberg Engineering proudly announces a significant advance in the use of artificial intelligence for ophthalmic diagnostics, with the publication of the Eye2Gene™ study in Nature Machine Intelligence. Titled “Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene”, the...
Familial Mediterranean Fever and keratoconus
This retrospective case control study was conducted in the Genetic Diagnostic Centre in Turkey. It examined the prevalence of keratoconus in two groups; patients with Familial Mediterranean Fever (FMF) and age matched controls free of FMF, who were tested for...
