You searched for "Genetics"
Stargardt disease in a Turkish cohort
The authors present a study of 27 Turkish patients who were seen in a single centre over a five-year period. All patients had macular optical coherence tomography (OCT), colour fundus photography and 30-2 Humphery visual fields performed, along with clinical...
PAX6 methylation and myopia
The authors present a case control study of 41 adolescents (age 12–14) with myopia and 39 age- and sex-matched non-myopic controls. The myopic patients were sub-divided into mild, moderate and severe myopia subgroups. DNA was extracted from peripheral blood samples...
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...
Long-term incidence and survival trends in retinoblastoma in the USA
The authors present a retrospective observational study of 5730 patients diagnosed with retinoblastoma between 1996 and 2018. Data on demographics, age at diagnosis, treatment and survival were extracted from national registries with coverage of 99% of the population of the...
Nystagmus in infants (0–1 year)
This article from a tertiary hospital in Jerusalem documents the examination and investigations of 147 infants aged 0–1 years with nystagmus. The most common pathologies were albinism (59%) and inherited retinal dystrophy (IRD) (21%). They had eight patients with vertical...Exploiting nature’s randomised trials of eye disease
Confounding and reverse causation in observational ophthalmic epidemiology Traditional observational studies are inherently limited in establishing a causal effect of an exposure on an outcome of interest. One fundamental limitation is confounding, whereby causation is incorrectly attributed to a third...Twenty-five years in retina
In the next of our articles celebrating 25 years of Eye News, the authors look at how the retina specialty has changed over this time and ask what the future might hold. Retinal disease management has benefited from great advances...
Ovarian hormones drive onset of Sjogren’s disease in mice
Sjogren’s syndrome (SS) is a debilitating, sight-threatening, systemic autoimmune disease with no effective treatment available. SS is characterised by lacrimal gland lymphocytic infiltration and epithelial cell death, as well as by the presence of serum autoantibodies. Patients have severe dry...
