You searched for "Genetics"
Gene therapy for inherited retinal disease: the Manchester Ocular Gene Therapy Group MDT service
The authors describe the process set up in Manchester for the optimum delivery and assessment of a new gene therapy treatment for patients with RPE65 IRD. Inherited retinal dystrophies (IRDs) are the second commonest cause of severe visual impairment in...Usher syndrome: an overview
Usher syndrome is the most common hereditary condition that affects both vision and hearing. It is an autosomal recessive condition characterised by retinitis pigmentosa (RP) and bilateral sensorineural hearing loss [1,2]. Usher syndrome is the cause of approximately 10% of...New webinar series on sight loss and genomic research
A new webinar series highlighting the latest scientific developments and the future of research will be launched next week.
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...In conversation with Denize Atan (UK-EGG)
We spoke to Denize Atan, co-president of the UK Eye Genetics Group, about their upcoming meeting in June, and her recent session entitled ‘Neuro-ophthalmology Nightmares’.Neurofibromatosis type 2 – diagnosis, features and MDT approach
NF2 is a genetic condition caused by mutation in a single gene (NF2 gene) on chromosome 22. The NF2 gene provides instructions to produce a protein called merlin, also known as schwannomin. This protein functions as a tumour suppressor, preventing...
Online retinoblastoma surveillance tool
Given the vision and life-threatening course of retinoblastoma (RB), it has become a significant heritable childhood cancer to screen for. To recommend surveillance, risk must be estimated and genetic testing plays a vital role. However, genetic tests vary based on...
Genetic analysis of choroideremia families
Choroideremia (CHM) is a rare X linked recessive chorioretinal dystrophy. Symptoms include nyctalopia and progressive peripheral field loss. Female carriers may have mild symptoms. Choroideremia is known to be caused by a mutation in the CHM gene. A multicentre human...
Germline mutation risk in solitary unilateral retinoblastoma
This study aimed to determine the true risk for germline mutation in a child presenting with solitary unilateral RB and whether this risk differs by age at presentation. This was a retrospective review of 482 cases from 1972-2020. Age groups...
Patient-reported outcomes in oculoplastic surgery
This is an important if somewhat difficult to grasp article which tries to formally address the subject of patient-reported outcomes in oculofacial surgery. The authors have conducted an extensive review of the literature searching for instruments (questionnaires) which have been...
