Macular and peripapillary vascular parameters in the fellow eyes of unilateral primary congenital glaucoma: a comparative study.

PURPOSE: To study the fellow eyes of patients with unilateral primary congenital glaucoma (PCG) using optical coherence tomography angiography (OCTA) and compare them to normal age- and refractive error-matched healthy controls. METHODS: Using OCTA, the foveal avascular zone (FAZ) area, cup:disk ratio, vessel density (VD) of the optic nerve head (ONH) and peripapillary area and the macular VD in superficial (SCP) and deep vascular complexes in both 3 mm and 6 mm scans of both groups were compared. Clinical data included best-corrected visual acuity (BCVA), cycloplegic refraction, intraocular pressure (IOP), anterior and posterior segments examination findings, including ONH cup:disk ratio. RESULTS: A total of 48 eyes of 48 children (24 eyes in each group) were included. There was no difference in the mean retinal nerve fiber layer thickness, cup:disk ratio, baseline visual acuity, or spherical equivalent between groups (P > 0.05). In the 3 mm macular scan, the VD of the SCP at the fovea was significantly higher in the PCG group compared to controls (P = 0.04). In the ONH scans, there was a significantly reduced inside the disk VD in the PCG group compared to controls (P = 0.03). There was no significant difference in other macular and ONH vascular parameters between groups (P > 0.05). CONCLUSIONS: In our study cohort, there was no difference in most of the macular and ONH vascular parameters between groups. However, the fellow eyes of PCG patients exhibited higher VD of the SCP at the fovea and reduced inside the disk VD compared with control eyes.

Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma.

BACKGROUND: Retinoblastoma (RB) is the most common primary intraocular malignant tumor in children. RB is mostly caused by biallelic mutations in RB1 and occurs in hereditary and non-hereditary forms according to the "two-hit" theory. RB1 mutations comprise point mutations, indels, large deletions, and duplications. Genetic testing is essential for the comprehensive treatment and management of patients with RB. AIM: The aim was to evaluate RB1 copy number variations (CNVs) using MLPA versus FISH assays in group of Egyptian patients with RB. RESULTS: 16.67% showed an RB1 deletion, abnormal methylation status, or both. CONCLUSION: Our results suggested MLPA is a fast, reliable, and powerful method and should be used as a first-line screening tool for detecting RB1 CNVs in patients with RB. Moreover, MLPA is advantageous as it evaluates the methylation status/inactivation of RB1, not possible by FISH.

Anterior Chamber Angle Evaluation following Phakic Posterior Chamber Collamer Lens with CentraFLOW and Its Correlation with ICL Vault and Intraocular Pressure.

Purpose. To assess intraocular pressure (IOP), lens vaulting, and anterior chamber (AC) angle width, following V4C implantable Collamer lens (ICL) procedure for myopic refractive error. Methods. A prospective case series that enrolled 54 eyes of 27 patients that were evaluated before and after V4C phakic posterior chamber Collamer lens implantation for correction of myopic refractive error. Preoperative measurement of IOP was done using Goldmann applanation tonometer and anterior chamber angle width using both Van Herick slit lamp grading system and Scheimpflug tomography imaging (Oculus Pentacam). Follow-up of the aforementioned variables was at 1, 6, and 18 months postoperatively, together with ICL vault measurements. Results. The mean baseline IOP of 11.69 ± 2.15 showed a statistically significant (P = 0.002) increase after 1 month that remained unchanged at 6 and 18 months postoperatively, with mean value of 16.07 ± 4.12, 16.07 ± 4.10, and 16.07 ± 4.13, respectively. Pentacam AC angle width showed a statistically significant decrease at 1 (P = 0.025), 6 (P = 0.016), and 18 (P = 0.010) months postoperatively, with mean preoperative value of 40.14 ± 5.49 that decreased to 25.28 ± 5.33, 25.46 ± 5.44, and 25.49 ± 5.38, at 1, 6, and 18 months, respectively. Mean ICL vault showed moderate correlation with Pentacam AC angle width at 1 (r = -0.435) and 6 (r = -0.424) months. Conclusion. V4C ICL implantation resulted in decrease in AC angle width and increase in IOP, within acceptable physiological values at all time points.