Correlation between retinal nerve fiber layer thickness and anterior segment parameters in patients with pseudoexfoliation: A cross-sectional comparative study.

PURPOSE: The purpose of this study was to assess the retinal nerve fiber layer (RNFL) thickness in patients with pseudoexfoliation (PXF) and to correlate it with anterior segment parameters such as intraocular pressure (IOP), central corneal thickness (CCT), pigments in angle structures, and grades of PXF. METHODOLOGY: This was a cross-sectional comparative study in a tertiary care center. Patients having unilateral PXF were categorized as group 1. Age- and sex-matched healthy controls were categorized as group 2. All subjects underwent IOP measurement, CCT measurement, and retinal nerve fiber thickness measurement. Subjects in group 1 also underwent gonioscopy and perimetry. Data were entered and analyzed using the IBM-SPSS program (version 20.0); Chicago, IL. RESULTS: Mean RNFL thickness in group 1 was 85.91 ± 22.237 µ and in group 2 was 106.65 ± 6.1 µ. The mean RNFL thickness in patients with PXF syndrome was 103.38 ± 5.815 µ and in patients with PXF glaucoma was 67.82 ± 17.984 µ. The mean CCT in patients with PXF syndrome was 516.41 ± 23.03 µ and in patients with PXF glaucoma was 507 ± 33.05 µ and control group was 526.6 m. The mean IOP in patients with PXF syndrome was 8 ± 6.01 mmHg; in patients with PXF glaucoma was 17.21 ± 7.33 mmHg; and in the control group was 14.12 ± 2.693 mmHg. There was a negative correlation between IOP and RNFL thickness, and a positive correlation between CCT and RNFL thickness, but it was not statistically significant. A statistically significant correlation was found between grades of PXF and RNFL thinning with a correlation coefficient of 0.437 (P = 0.001). CONCLUSION: Patients with PXF have a lower CCT, higher mean IOP, and RNFL thinning compared to normal subjects. The presence of grade 3 PXF (on the lens surface edge) showed a statistically significant correlation with RNFL thinning.

Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach.

Niemann-Pick disease type C is a rare autosomal recessive of lysosomal storage disorder characterized by impaired intracellular lipid transport and has a tendency to accumulate the fatty acids and glycosphingolipids in a variety of neurovisceral tissues. This work includes computational tools to deciphere the mutational effect in NPC protein. The study initiated with the collection of 471 missense mutations from various databases, which were then analyzed using computational tools. The mutations (G549V, F703S, Q775P and L1244P) were said to be disease associated, altering the biophysical properties, in highly conserved regions and reduces the stability using several in silico methods and were subjected to molecular docking analysis. To analyze the ligand (Itraconazole: a small molecule of antifungal drug class, which is known to inhibit cholesterol export from lysosomes) activity Molecular docking study was performed for all the complex proteins. The average binding affinity was taken and found to be -10.76 kcal/mol (native) and -11.06 kcal/mol (Q775P was located in transmembrane region IV which impacts the sterol-sensing domain of the NPC1 protein and associated with a severe infantile neurological form). Finally, molecular dynamic simulation was performed in duplicate and trajectories were built for the backbone of the RMSD, RMSF, the number of intramolecular hydrogen bonds, the radius of gyration and the SSE percent for both the complex proteins. This work contributes to understand the effectiveness and may provide an insight on the stability of the drug with the complex variant structures.Communicated by Ramaswamy H. Sarma.

Non-Arteritic Anterior Ischaemic Optic Neuropathy Associated with Optic Nerve Hypoplasia and Elevated Intraocular Pressure.

A 46-year-old woman with no known past medical history presented with sudden painless visual impairment in the left eye. Ocular examination showed a swollen and hyperaemic left optic disc with a small and crowded right optic disc. Intraocular pressures were moderately elevated. Investigations for underlying ischaemic and inflammatory markers were normal. A diagnosis of left non-arteritic anterior ischaemic optic neuropathy (NAAION) was made, with associated ocular hypertension. On follow-up, NAAION resolved with anti-glaucoma medication and repeat fundus examination confirmed the presence of an underlying hypoplastic disc. The coexistence of optic disc hypoplasia and elevated intraocular pressure may further augment the risk of developing NAAION.