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Association of pendular waveform and retinal disorders
The authors aimed to evaluate the relationship between retinal disorders and pendular low amplitude high frequency components (PLAHF) waveform by collecting nystagmus eye movement recordings, electroretinography (ERG) and gene tests. Retinal disorders were diagnosed by clinical phenotype and genotype characteristics....The International AMD Genomics Consortium study: another success in understanding the complex genetics of AMD
Age-related macular degeneration (AMD) is a neurodegenerative complex disease of the eye and a major cause of blindness and visual impairment among the elderly worldwide. The early stages of the disease are characterised by asymptomatic pigmentary abnormalities and accumulation of...
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...A revolution in modern genetic testing for the clinical management of ocular disease
Recent years have seen a huge increase in our understanding of the genetic factors underlying a wide variety of eye diseases. This has included common conditions such as glaucoma and age-related macular degeneration, as well as those conditions which have...
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...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...
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,...
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)...
Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide
X-linked retinoschisis (XLRS) is an early onset hereditary retinal dystrophy. It is caused by mutations of the RS1 gene. Common manifestations of XLRS are schitic lesions at the macula, as well as infero-temporal schisis. Carbonic anhydrase inhibitors have previously been...
