Ophthalmic Presentations and Manifestations of COVID-19: A Systematic Review of Global Observations.

As the presentations and complications of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continue to surface, the ocular manifestations have emerged as an area of interest. Research and reports conveyed the presence of several ophthalmic conditions observed in Coronavirus disease 2019 (COVID-19) patients. These publications documented a range of presentations varying from asymptomatic to serious impairments.

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.

Mucolipidosis (ML) (OMIM 607840 & 607838) is a rare autosomal recessive inherited disorder that occurs due to the deficiency of golgi enzyme uridine diphosphate (UDP)- N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) responsible for tagging mannose-6-phosphate for proper trafficking of lysosomal enzymes to lysosomes. Variants in GlcNAc-phosphotransferase (GNPTAB (α, β subunits) and GNPTG (γ subunits) are known to result in impaired targeting of lysosomal enzymes leading to Mucolipidosis (ML) Type II or Type III. We analyzed 69 Indian families of MLII/III for clinical features and molecular spectrum and performed in silico analysis for novel variants.