You searched for "genetic"
Paediatric optic disc anomalies
Anomalies of the optic nerve are relatively rare, but account for a significant proportion of sight impairment in children and adults. The recognition of these anomalies by eye health professionals is important not only due to their potential impact on...
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...
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...
Usher syndrome patient reported outcomes
The authors present a systematic review of the literature on patient-reported outcomes in Usher syndrome; a leading cause of deaf-blindness. A total of 27 studies were included, and there was a strong bias towards studies from the US and Europe...
