Novel disease-causing variant in presenting with autosomal dominant retinitis pigmentosa.

Aim: To describe the clinical and molecular features of a novel, autosomal dominant -retinopathy.

Methods: Retrospective cross-sectional study. Twelve individuals from a four-generation British pedigree underwent ophthalmic examination, genotyping using next generation sequencing, including whole genome sequencing and multimodal retinal imaging including fundus photography, optical coherence tomography (OCT), autofluorescence imaging and adaptive optics (AO) scanning light ophthalmoscopy were performed.

Cone photoreceptor definition on adaptive optics retinal imaging.

Aims: To quantitatively analyse cone photoreceptor matrices on images captured on an adaptive optics (AO) camera and assess their correlation to well-established parameters in the retinal histology literature.

Methods: High resolution retinal images were acquired from 10 healthy subjects, aged 20-35 years old, using an AO camera (rtx1, Imagine Eyes, France). Left eye images were captured at 5° of retinal eccentricity, temporal to the fovea for consistency.

Frontal sinus pneumocoele: a rare cause of orbital emphysema.

Sudden onset nonaxial proptosis and diplopia is alarming and orbital haemorrhage or a rapidly expanding orbital tumour should be excluded. We present a case of a young man aged 15 years who attended the Accident and Emergency Department with a 6-h history of sudden onset proptosis and diplopia in whom the aetiology was orbital emphysema.