You searched for "keratitis"
An unusual presentation of sarcoidosis
*Equally contributing co-first authors. Case report A 45-year-old man presented to his local optometrist with a three-week history of severe intermittent left eye pain with associated blurred vision and tenderness around his left temple. Two days prior, he developed weakness...Like a moth to AC flare: CMV-associated hypertensive anterior uveitis
Hypertensive anterior uveitis can present a diagnostic challenge to clinicians working in emergency eye departments. While prompt initial control of intraocular pressure (IOP) and inflammation is essential, elucidating the underlying aetiology is critical for long-term visual outcomes. When there is...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...
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...
Evaluation of ectopia lentis et pupillae (ELP)
The ADAMTSL4 gene encodes proteins for cellular adhesion, angiogenesis, nervous system development and anterior / posterior segment structures. This case report describes a four-year-old female with diagnosis at referral of ELP. A three-generation pedigree was obtained and was negative for...
Gene therapy: perspectives from young adults with Leber’s congenital amaurosis
The authors present their telephone survey data of 10 patients with a mean age of 24.4 years regarding their opinion on gene therapy for their Leber’s congenital amaurosis. Patients were recruited at the Hospital for Sick Children, Toronto. Of the...
Patient perspectives on inherited retinal diseases
The authors present a qualitative study of patient perspectives on living with inherited retinal diseases based on social media engagement. Social media posts from 6 sites were analysed over a 10-year period. Data was extracted manually by the research team,...
Limitations of next generation sequencing
This is a report of a young female patient with clinically diagnosed retinitis pigmentosa who underwent genetic testing using an inherited retinal disease panel and whole exome sequencing by next generation sequencing (NGS) technology. This approach did not identify any...
Screening and adherence to glaucoma care in Enugu, Nigeria
The authors present the findings of a cross-sectional survey of participants diagnosed with glaucoma during free eye screening. A total of 830 participants were screened from two outreaches:182 new glaucoma cases were diagnosed (63 glaucoma and 119 glaucoma suspects). There...
