A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG

Purpose: This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with coexistence of primary congenital glaucoma (PCG) and juvenile open?angle glaucoma (JOAG). Methods: Sanger sequencing was used to examine the coding region of all four genes. Six different online available algorithms were used for the pathogenicity prediction of missense variant. Structural analysis was done using Garnier–Osguthorpe–Robson (GOR), PyMol, ChimeraX, and Molecular Dynamic (MD) Simulations (using Graphics Processing Unit (GPU)?enabled Desmond module of Schrödinger). Results: There were a total of three sequence variants within the family. All seven algorithms determined that a single mutation, G538E, in the OPTN gene is pathogenic. The loops connecting the strands became more flexible, as predicted structurally and functionally by pathogenic mutations. Mutations create perturbations and conformational rearrangements in proteins, hence impairing their functioning. Conclusion: In this study, we describe a North Indian family in which members were having JOAG and PCG due to a rare homozygous/ heterozygous mutation in OPTN. The coexistence of two types of glaucoma within a single pedigree suggests that certain OPTN mutations may be responsible for the onset of different glaucoma phenotypes.

Ayurveda management of oro-facial herpes: a case report

Viral infections are one of the challenging health hazards of the present medical care. One among such viral infections is “Oro-facial Herpes”, caused by the Varicella Zoster Virus (HSV-1). This case report shows the successful treatment of “Oro-facial herpes” and its complication only through Ayurveda. In which, there will be closed grouped vesicles on an erythematous base in the dermatomal pattern, with burning type of pain. The condition in Ayurveda can be co- related to ‘Visarpa’. We present a case of 72-year, male, with sudden onset of edema over upper gums, with 3 to 4 vesicles over the left upper lip, left part of face within 2 days, along with reduced sensation to touch and temperature. The patient had redness, watering and burning sensation of left eye. Clinically the patient was diagnosed with “Oro- Facial Herpes”. As pitta dosha and raktadhatu vitiation was noticed the case was managed by Nitya pitta rechaka (cholegogue), the dravy’s with tikta, sheetaveerya and ruksha in nature. The patient showed improvement over 5 months of treatment from 10-Apr to 15-Aug-2018. The complaints of pain in the lesions reduced from 8 to 2, headache from 8 to 1 (VAS) and burning sensation reduced by 90%.