De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Analysis of Macular Vascularization Using Optical Coherence Tomography Angiography in Patients with Obstructive Sleep Apnea Syndrome: A Prospective Clinical Study.

Given the conflicting data available in the literature, this study aimed to investigate the impact of obstructive sleep apnea syndrome (OSAS) on the macular vascular density (VD) and perfusion density (PD). Based on the obstructive apnea-hypopnea index (OAHI), 61 prospectively recruited patients were assigned to either a control group ( = 12; OAHI < 5/h) or an OSAS group ( = 49; OAHI ≥ 5/h). The macular VD and PD of the superficial and deep capillary plexuses (SCP and DCP, respectively) were measured in the parafoveolar and perifoveolar areas using Zeiss PLEX Elite 9000 (6 × 6 mm).

Necrotising retinopathy-like lesions as a manifestation of ocular sarcoidosis.

Background: A 56-year-old Caucasian man presented with a 2-weeks history of decreased vision in the right eye. Vitritis, papillitis, cystoid macular oedema and inferior diffuse retinal infiltration were noticed. Extensive blood work-up, anterior chamber paracentesis with polymerase chain reaction (PCR) and Goldmann-Witmer coefficient, tuberculin skin test (PPD-test), fluorodeoxyglucose Positron Emission Tomography CT scan (FDG-PET/CT), lymph node biopsy and pars plana vitrectomy were performed.