You searched for "Gene"
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...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...
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...Shockat Adam MP pledges to focus attention on special schools eyecare service
Charity SeeAbility and Willow Dene Oakmere Road special school in Greenwich were delighted to host the first practising optometrist MP to be elected to parliament, Shockat Adam, to see the charity’s eyecare work in action. Shockat came to learn more...
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...
Limitations of next generation sequencing
This is a report of a young female patient with clinically diagnosed retinitis pigmentosa who underwent genetic testing using an inherited retinal disease panel and whole exome sequencing by next generation sequencing (NGS) technology. This approach did not identify any...
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...
Lamellar patch grafts utilising cornea remnants from DMEK/PKP
The authors retrospectively reviewed 23 lamellar patch grafts performed over a six-year period for tectonic indications in corneal thinning and perforations. The anterior stroma of corneal endothelium peeled for descemet membrane endothelial keratoplasty (DMEK) were used to prepare circular lamellar...
