Latest Contribution
Transcriptomic and regulatory gene associations in open angle glaucoma
The authors report a study utilising a publicly available whole exome sequencing dataset of 28 patients with primary open angle glaucoma (POAG) and seven healthy control patients, and a transcriptomic dataset from the trabecular meshwork of four POAG patients and...
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...
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...
