ABSTRACT
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. The aim of this study is to characterize the ophthalmic pathologies and their frequencies observed due to COVID-19 in patients across different regions of the world. The goal is that the paper assists primary care physicians and healthcare providers. A systematic review of 31 articles published between January 1, 2021 to January 13, 2022, explored the presenting ocular symptoms of COVID-19, diagnosis, duration of ophthalmic complications, as well as pre-existing comorbidities. A total of 816 patients, 427 (52.3%) males and 389 (47.7%) females, from various regions of the world were investigated. Studies focusing on patients with a history of ocular pathologies, non-COVID-19 infections, complications associated with the COVID-19 vaccine, and pediatric patients were excluded from this study. Ocular complications were most commonly reported one to two weeks following the initial COVID-19 diagnosis. Analysis suggests that the "red" eye is the most prevalent presenting ophthalmologic symptom, followed by temporary vision loss. Conjunctivitis was also the most common clinical diagnosis reported, followed by neuro-retinal affection in the form of cotton wool spots (n=127 and n=9, respectively). This study summarizes ocular manifestations in COVID-19 patients and serves to help healthcare providers recognize common symptoms and their severity. This may lead to early diagnosis, treatment, and intervention of these manifestations.
ABSTRACT
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, ß 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. We identified 38 pathogenic variants in GNPTAB and 5 pathogenic variants in GNPTG genes including missense, frame shift, deletion, duplication and splice site variations. A total of 26 novel variants were identified in GNPTAB and 4 in GNPTG gene. In silico studies using mutation prediction software like SIFT, Polyphen2 and protein structure analysis further confirmed the pathogenic nature of the novel sequence variants detected in our study. Except for a common variant c.3503_3504delTC in early onset MLII, we could not establish any other significant genotype and phenotype correlation. This is one of the largest studies reported till date on Mucolipidosis II/III in order to identify mutation spectrum and any recurrent mutations specific to the Indian ethnic population. The mutational spectrum information in Indian patients will be useful in better genetic counselling, carrier detection and prenatal diagnosis for patients with ML II/III.
