You searched for "genetic"
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...
Comprehensive review of inherited retinal diseases
The authors offer an up-to-date review of inherited retinal diseases (IRDs). In each section the authors discuss the molecular basis of disease, genotype and clinical manifestation. They also discuss the investigation findings and current evidence in the treatment of the...
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...
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...
Optical coherence tomography in patients exposed to vigabatrin
Vigabatrin is used to treat epilepsy and can lead to increased levels of gamma-aminobutyric acid (GABA) in the brain and in the retina leading to binasal visual field defects. Although not the first line of treatment for adults it is...
