Panel-based genetic testing for inherited retinal disease screening 176 genes.

Background: This case series reports the performance of a next-generation sequencing (NGS) panel of 176 retinal genes (NGS 176) in patients with inherited retinal disease (IRD).

Methods: Subjects are patients who underwent genetic testing between 1 August 2016 and 1 January 2018 at Moorfields Eye Hospital, London, UK. Panel-based genetic testing was performed unless a specific gene (e.

Clinical findings and molecular diagnosis of retinoblastoma in older children.

Background: Retinoblastoma (RB) is the most common primary childhood intraocular malignancy and usually presents before the age of 4 years. RB in late childhood is rare and may pose a diagnostic challenge to clinicians.

Materials And Methods: Patients over the age of 4 years with RB were identified retrospectively.

Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography.

Fundal opacities have been reported in patients with Gaucher disease, a rare autosomal recessive lysosomal storage disease, prior to the advent of optical coherent tomography. This report provides a detailed analysis of the fundal opacities in a 14-year-old girl with genetically proven Gaucher disease using spectral domain optical coherent tomography. It illustrates clearly that these opacities were pre-retinal opacities located at the vitreo-retinal interface associated with localized posterior vitreous detachments, rather than vitreous opacities as previously suggested in the literature.