You searched for "Genetics"
Case reports of neuro-visual consequences of mild COVID-19 in children
Neuro-visual involvement has been reported in numerous patients with severe SARS-CoV-2 disease, mainly among adult patients. In children, such involvement has been reported in rare cases, often in those presenting with severe forms of COVID-19. The aim of this work...
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...
Features of branchio-oculo-facial syndrome
Branchio-oculo-facial (BOF) syndrome is an autosomal dominant inherited syndrome that typically presents with branchial cleft sinus defects, ocular anomalies and dysmorphic facial appearance. The authors present a new case alongside the results of a literature review describing the common genetic...Large-scale study uncovers demographic and sex factors behind genetic cause of age-related visual loss
A new study has identified a major genetic contributor to Fuchs’ Endothelial Corneal Dystrophy (FECD), a common cause of vision loss, also highlighting the significant roles of sex and ancestry. FECD is a common, inherited eye condition that primarily affects...An update on inherited retinal disorders (part 1) – overview and assessment of inherited retinal disease
Part 2 of this topic can be found here Inherited Retinal Disease (IRD) is the leading cause of blindness certification in the working age population (age 16-64 years) in England and Wales and the second most common in childhood [1]....Boosting key protein in eye cells could prevent age-related vision loss, international team finds
Increasing the levels of a key protein in the cells at the back of the eye could help protect against the leading cause of vision loss among older adults, finds a new discovery made by researchers from the UK, US, Germany and Australia.Gene Vision launched to support those diagnosed with genetic eye diseases
A new website, Gene Vision (https://gene.vision), has been developed by Professor Mariya Moosajee and Dr Alex Yeong, supported by Dr Peter Thomas (Director of Digital Innovation at Moorfields Eye Hospital). The new site is intended for adults, children and their families who are diagnosed with rare genetic eye diseases.
180 MCQs for the Duke Elder Examination
The Duke-Elder Undergraduate Prize Exam is a competitive exam aimed at undergraduates with an interest in ophthalmology. It is amongst the most prestigious undergraduate prizes in the United Kingdom. I would encourage motivated candidates to get their hands on as...
Enucleation refusal for retinoblastoma
Retinoblastoma is the most common eye cancer in childhood, with enucleation rarely being the only lifesaving surgical option, especially where evidence of extraocular spread is apparent. This study sought to survey a global pool of eye care professionals with regards...
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...
The prevalence of macular cysts in patients with clinical cone-rod dystrophy determined by spectral domain optical coherence tomography
Cone-rod dystrophy is a progressive photoreceptor disorder which has multiple inheritance patterns. It is rare, with a prevalence of 1 in 40,000. Macular cysts are well recognised in other photoreceptor conditions such as retinitis pigments and choroideraemia, while they are...
