Comparison of intraocular pressure measurements with the tono-pen, goldmann applanation tonometer, and noncontact tonometer in nonglaucomatous pseudophakic children.

BACKGROUND: To evaluate the agreement between the Goldman applanation tonometer (GAT), Tono-Pen, and noncontact tonometer (NCT) in the measurement of intraocular pressure (IOP) in pseudophakic children. METHODS: The medical records of nonglaucomatous pseudophakic children between 2009 and 2019 were retrospectively analyzed. A total of 46 eyes of 23 patients operated for bilateral pediatric cataract were included in the study. The patients' mean age was 13.4 ± 4.1 years. Central corneal thickness (CCT) and IOP values measured with the GAT, Tono-Pen, and NCT were recorded. Agreement between the tonometers was evaluated by intraclass correlation coefficients (ICC) and the Bland-Altman method. RESULTS: The mean IOP of the 46 eyes included in the study was measured as 13.7 ± 2.3 mm Hg with the GAT, 16.0 ± 2.3 mm Hg with NCT, and 16.5 ± 2.3 mm Hg with the Tono-Pen (p < 0.001). There is no statistical difference between NCT and Tono-Pen measurements, while GAT measurements were significantly lower than those of the NCT and Tono-pen. ICC values showed fair agreement between NCT and Tono-Pen (ICC = 0.720), whereas there was poor agreement between GAT and NCT (ICC = 0.501) and Tono-pen (ICC = 0.314). CONCLUSIONS: With all devices included in the study, thicker corneas were associated with higher IOP measurements. Although there was moderate agreement between the NCT and Tono-Pen, there was a statistically significant difference in the IOP values provided by the three devices. Our results suggest these devices should not be used interchangeably.

Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.

PURPOSE: The present study aimed to identify the molecular etiology of non-syndromic congenital cataract (CC) using whole-exome sequencing (WES) analysis. METHODS: In the present study, ophthalmologic results and pedigree analysis of the families of 12 patients with non-syndromic CC were evaluated. WES analysis was conducted after DNA was isolated from peripheral blood samples obtained from the patients. RESULTS: Twelve non-syndromic probands (10 males and 2 females) with bilateral CC were included in the study. Patient age ranged between 1 and 11 months. WES analysis showed pathogenic/likely pathogenic variant in 7 (58%) of the 12 families and variant of unknown significance (VUS) in 5 (42%) of them. All the 13 different variants detected in 9 different CC-related genes were co-segregated with the disease. Autosomal dominant inheritance was found in 7 (58%) of the families and autosomal recessive inheritance was found in 5 (42%) of them. CONCLUSION: To the best of our knowledge, the present research is one of the limited numbers of studies in the Turkish population in which genetically heterogeneous non-syndromic CC was investigated using WES analysis. Novel variants that we identified in DNMBP, LSS, and WFS1 genes, which are rarely associated with the CC phenotype, have contributed to the mutation spectrum of this disease. Identifying the relevant molecular genetic etiology allows accurate genetic counseling to be provided to the families.

Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot-Marie-Tooth disease.

PURPOSE: To evaluate the spectral-domain optical coherence tomography (SD-OCT) findings and pattern visual evoked potential (VEP) in Charcot-Marie-Tooth (CMT) disease. METHODS: Seventeen patients with CMT disease and 17 control subjects were included in the study. The patients were divided into two groups according to conduction velocity and inheritance pattern as demyelinating type (CMT 1) and axonal type (CMT 2). The average retinal nerve fiber layer (RNFL) thickness, RNFL thicknesses of all quadrants, and thicknesses of the ganglion cell layer complex (GCC) were measured using SD-OCT. Pattern VEP recordings were evaluated in both groups. RESULTS: The average and four quadrants of RNFL thicknesses, and superior and inferior GCC thicknesses were significantly thinner in the CMT patients compared with healthy individuals, but there were no statistically significant differences between the CMT groups. There was a significant positive correlation between age and all RNFL and GCC thicknesses in the CMT 2 group and between age and RNFL thickness of the temporal quadrant in the CMT 1 group. P100 latencies were significantly delayed in the CMT groups compared with controls, and there were no significant differences in P100 latencies between the CMT groups (p < 0.001). VEP amplitudes were in normal ranges in the CMT groups. CONCLUSION: This study showed that RNFL and GCC thicknesses were significantly reduced and VEP latencies were prolonged in patients with CMT with normal clinical examinations. Our results suggest that optic nerves may be affected more frequently in patients with CMT that is detected in clinical examinations.

Clinical Findings and Optical Coherence Tomography Measurements of Pediatric Patients with Papilledema and Pseudopapilledema.

Objectives: To compare the clinical findings and multimodal imaging of pediatric patients diagnosed with papilledema and pseudopapilledema with those of healthy individuals. Materials and Methods: Ninety children (<18 years of age) referred for suspected papilledema were included in this study. All patients underwent optical coherence tomography (OCT) imaging and were compared with normal control subjects. Results: Fifty-eight children diagnosed with pseudopapilledema, 32 children with mild-to-moderate papilledema, and 40 controls were evaluated. The average and all quadrants of retinal nerve fiber layer (RNFL) thickness were significantly higher in the papilledema group than in the pseudopapilledema and control groups (p<0.001). Bruch's membrane opening (BMO) measurements were similar in both groups (p>0.05). The average, nasal, and temporal RNFL thicknesses were significantly higher in the pseudopapilledema group compared with the controls (p<0.001). Area under the receiver operating characteristic (ROC) curve showed high diagnostic ability for RNFL thickness in all quadrants to differentiate papilledema from pseudopapilledema (p<0.001). In the pseudopapilledema group, average, temporal, and inferior RNFL thickness and BMO measurements were significantly higher in eyes with optic nerve head drusen (n=28) compared with those without drusen (n=88) (p=0.035, p=0.022, p=0.040 and, p=0.047 respectively). Conclusion: Papilledema and pseudopapilledema show great differences in evaluation, follow-up, and prognosis. Using non-invasive methods such as newly developed OCT techniques in differential diagnosis can relieve patients with pseudopapilledema from the stress and financial burden of expensive, extensive, and invasive procedures.

Evaluation of optical coherence tomography findings in adolescents with genetic generalized epilepsy.

OBJECTIVE: To evaluate retinal nerve fiber layer (RNFL) thickness, central macular thickness (CMT), and subfoveal choroid thickness (CT) by using optical coherence tomography (OCT) in adolescents with newly diagnosed epilepsy and patients who had been using Na valproate (VPA) for at least 1 year. METHODS: We examined 60 patients with genetic generalized epilepsy (GGE) aged 8-17 years. Thirty patients with newly diagnosed GGE who were evaluated before the beginning of the therapy and another 30 patients who were chosen from among adolescents with epilepsy using VPA for at least 1 year were included in the study. RESULTS: Nasal quadrant RNFL thickness and CMT measurements were significantly lower in the monotherapy group compared with the newly diagnosed group (p = 0.044 and p = 0.032, respectively). CT measurements were not significantly different between the groups (p = 0.413). There was a negative correlation in regression analysis between the duration of drug use and RNFL thickness in all quadrants. CONCLUSION: According to our study, we observed thinning of the nasal RNFL and macular thickness in adolescents with epilepsy who were using Na valproate for at least 1 year and that as the duration of use increased, the thinning occurred in all RNFL quadrants. Further studies with larger series are needed to better understand the effects of both epilepsy and VPA on the eye.