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.

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.

Vogt-Kayanagi-Harada-Like Uveitis Induced by Dabrafenib/Trametinib Therapy for Cutaneous Malignant Melanoma.

A 54-year-old woman with cutaneous malignant melanoma developed Vogt-Kayanagi-Harada (VKH)-like uveitis induced by dabrafenib/trametinib therapy. Dabrafenib was discontinued but she continued to use trametinib due to the risk of disease progression. Intraocular inflammation resolved after cessation of dabrafenib and administration of topical and systemic corticosteroids. Our patient outlines the importance of recognizing VKH-like uveitis as a consequence of dabrafenib/trametinib therapy in melanoma patients and highlights a question about the potential role of each drug in developing uveitis. [Ophthalmic Surg Lasers Imaging Retina 2023;54:477-480.].

Primary versus secondary intraocular lens implantation following removal of congenital/de al of congenital/developmental catar elopmental cataracts: outcomes after acts: outcomes after at least 4 years.

BACKGROUND: The aim of this study is to evaluate the long-term outcomes of primary and secondary intraocular lens (IOL) implantation following removal of congenital/developmental cataracts. METHODS: One hundred and forty-four patients aged under 16 years who were followed up between 2003 and 2021 were analyzed retrospectively. The long-term results of children who underwent surgery before 2 years of age for congenital or developmental cataracts and underwent secondary IOL implantation after 2 years of age and those who underwent cataract surgery with primary IOL implantation after 2 years of age were compared. Patients with traumatic, secondary cataracts and cataracts due to ocular anomalies were not included in the study. RESULTS: We evaluated 64 patients (mean age 9.5 ± 4.5 years) with secondary IOL implantation and 80 patients (mean age 12.8 ± 4.1 years) with primary IOL implantation in the study. Distance and near best-corrected visual acuities were significantly better in the primary IOL group than the secondary IOL group (p < 0.001). Incidence of strabismus after primary IOL surgery was significantly lower and presence of binocular vision was more often than the secondary IOL group (p = 0.002). There was no significant difference between the two groups in terms of refraction and myopic shift (p = 0.242, p = 0.172, respectively). Mean refractive changes were significant in unilateral cases of secondary IOL group and primary IOL group (p = 0.013, p = 0.049, respectively) and myopic shift was also greater in both groups of unilateral cases than the fellow eyes (p = 0.023, p = 0.012, respectively). DISCUSSION: Visual outcomes and binocular vision were better, and the incidence of strabismus was also much less in the primary IOL group.

Corneal endothelial cell morphology and optical coherence tomography findings in children with type 1 diabetes mellitus.

PURPOSE: To evaluate central macular thickness, retinal nerve fibre layer thickness, corneal endothelial cell density and central corneal thickness in children with Type 1 Diabetes Mellitus (DM). METHODS: Thirty children with Type 1 DM and 30 age-matched children as controls were examined. Central macular thickness (CMT) and four quadrants of retinal nerve fibre layer thickness (RNFLT) were measured by optical coherence tomography (OCT), while endothelial cell density (ECD), coefficient of variation in cell size (CV), hexagonality (HEX) and central corneal thickness (CCT) were measured by noncontact specular microscopy. RESULTS: The mean ECD was 2810.77 ± 273.47 cells/mm2 and the mean hexagonality ratio was 49.77 ± 13.2 both were significantly lower (p < 0.001, p = 0.037 respectively) in the diabetic group compared to the control group. The mean CV was 37.6 ± 7.27, it was significantly higher (p = 0.024) in the diabetic group than the control group. The mean corneal thickness was greater in the DM group than the controls, but the difference was not significant (p = 0.176). There were no significant differences in CMT or RNFLT between the two groups. There was a negative correlation between the HbA1c levels and the thickness of the superior quadrants of RNFL (r = -0.406, p = 0.026). The duration of diabetes had no significant correlations with the corneal and retinal parameters. CONCLUSION: The diabetic children had changes in corneal endothelial morphology and there was a negative correlation between HbA1c levels and superior quadrant of RNFLT.

Ocular-periocular burns in a tertiary hospital: Epidemiologic characteristics.

PURPOSE: Ocular burns are ophthalmic emergencies that can cause devastating injuries. This study aimed to analyze the epidemiology, complications, and management of ocular-periocular burns. METHODS: A total of 193 patients with ocular-periocular burns were admitted to our tertiary hospital from January 2018 to December 2020. The demographic characteristics of the patients, injury variables, complications, and treatments were evaluated. RESULTS: There were 142 male (73.6%) and 51 female (26.4%) patients with a mean age of 32.53±17.75 years. The average total body surface area was 12% (range, 1-80%). Injuries were most common at work (52.3%) and home (36.3%). Thermal burns were the most common injuries (74.6%), followed by chemical (14.5%) and electrical burns (10.9%). Alkaline agents (75.0%), mainly sodium hydroxide and lime, were common in chemical burns. Superficial lid burns were significantly higher in the thermal group (p < 0.001), and grade III-IV corneal burns were significantly higher in the chemical group (p < 0.001). Various complications were developed in 50 (13%) eyes. Medical treatment only was performed in 318 (82.4%) eyes, and additional surgical treatment was performed in 64 (17.6%) eyes; however, 54 (14.0%) underwent more than one surgery. The most common complications were corneal scars (7.3%), limbal deficiency (4.1%), and ectropion (3.9%). The most frequent procedures performed were amniotic membrane transplantation (AMT) (11.9%) and tarsorrhaphy (6.7%). CONCLUSION: Chemical burns, limbal and conjunctival ischemia, and full-thickness eyelid defects had a poor prognosis. The degree of limbal deficiency and injury of intraocular structures were found to have a great influence on the outcome of their visual acuity.

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.

Evaluation of platelet indices and pro-inflammatory cytokines in type 2 diabetic patients with retinopathy.

OBJECTIVE: The aim of this study was to investigate whether platelet parameters and pro-inflammatory cytokines associated with platelet activation could be surrogate markers of the diabetic retinopathy stages in type 2 diabetic patients. METHODS: This prospective case-control study included 108 type 2 diabetes mellitus patients and 48 healthy controls. After fundoscopic examination, patients were divided into three groups: no retinopathy, nonproliferative diabetic retinopathy, or proliferative retinopathy. Platelet selectin, interleukin-1alpha, and interleukin-6 values were measured by the enzyme-linked immunosorbent assay method. Homeostatic Model Assessment for Insulin Resistance formula was used to assess insulin resistance in patients. RESULTS: Mean platelet volume was lower and interleukin-1alpha was higher in the patients compared to the healthy controls (p=0.046 and p<0.001, respectively). In addition, a positive correlation between the platelet distribution width and HbA1C levels was observed in the patients (r=0.334, p<0.001). CONCLUSION: In the studies evaluating the utility of platelet indices and the associated cytokines in diabetic retinopathy, there is a need for the standardization of the measurements. All medications that can affect platelet activation should be taken into consideration.

Evaluation of platelet indices and pro-inflammatory cytokines in type 2 diabetic patients with retinopathy

SUMMARY OBJECTIVE: The aim of this study was to investigate whether platelet parameters and pro-inflammatory cytokines associated with platelet activation could be surrogate markers of the diabetic retinopathy stages in type 2 diabetic patients. METHODS: This prospective case-control study included 108 type 2 diabetes mellitus patients and 48 healthy controls. After fundoscopic examination, patients were divided into three groups: no retinopathy, nonproliferative diabetic retinopathy, or proliferative retinopathy. Platelet selectin, interleukin-1alpha, and interleukin-6 values were measured by the enzyme-linked immunosorbent assay method. Homeostatic Model Assessment for Insulin Resistance formula was used to assess insulin resistance in patients. RESULTS: Mean platelet volume was lower and interleukin-1alpha was higher in the patients compared to the healthy controls (p=0.046 and p<0.001, respectively). In addition, a positive correlation between the platelet distribution width and HbA1C levels was observed in the patients (r=0.334, p<0.001). CONCLUSION: In the studies evaluating the utility of platelet indices and the associated cytokines in diabetic retinopathy, there is a need for the standardization of the measurements. All medications that can affect platelet activation should be taken into consideration.

Comparison of central corneal thickness measurements with different non-contact devices in healthy children.

PURPOSE: To investigate the agreement of the Combined Scheimpflug-Placido Disk System (Sirius), specular microscopy (Tomey EM-4000), non-contact tono-pachymetry (Canon TX-20P), and optical low-coherence reflectometry (Lenstar LS 900) devices in the measurement of central corneal thickness (CCT) in healthy children. METHOD: Eighty-three eyes from 83 healthy children were included in the study. The mean age of the children was 11.1 ± 2.8 (range, 7-17) years. CCT was measured using the Sirius topography, Tomey specular microscopy, Canon TX-20P, and Lenstar LS 900 devices. To examine the agreement among these devices, 95% limits of agreement (LoA) and intraclass correlation coefficients (ICC) were determined. RESULTS: The mean CCT values obtained using the Sirius topography, Tomey SM, Canon TX-20 P, and Lenstar 900 devices were 555.9 ± 37 µm, 553.5 ± 39 µm, 569.3 ± 33 µm, and 559.7 ± 38 µm, respectively. With the ICC method, the agreement rates were determined as 0.875 between Canon TX-20P and Sirius topography, 0.903 between Canon TX-20P and Lenstar LS 900, 0.842 between Canon TX-20P and Tomey EM-4000, 0.979 between Sirius Topography and Lenstar LS 900, 0.978 between Sirius topography and Tomey EM-4000, and 0.969 between Lenstar LS 900 and Tomey EM-4000. CONCLUSION: The devices with the closest results to each other were the Sirius and Tomey EM-4000 devices, with a statistically strong agreement. There was also a strong agreement between Sirius and Lenstar LS 900, although there was a 3.7-unit difference between them. Nevertheless, despite the strong agreements among these devices, because their CCT values varied statistically significantly, these devices should not be used interchangeably in clinical practice.

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.

The impact of celiac disease and duration of gluten free diet on anterior and posterior ocular structures: Ocular imaging based study.

PURPOSE: To evaluate the eyes of adult celiac disease (CD) patients and investigate the association between these ocular parameters with celiac specific antibodies and duration of gluten free diet (GFD). METHODS: This cross-sectional study included 72 eyes of 36 CD patients (18-51 years of age) and 70 eyes of 35 age- and sex-matched healthy controls. In addition to a complete ophthalmologic examination, all patients were scanned by a Scheimpflug camera, specular microscopy and spectral domain optical coherence tomography. RESULTS: Endothelial cell density (ECD), anterior chamber angle (ACA) degrees, anterior chamber depth (ACD), anterior chamber volume (ACV) and central macular thickness (CMT) values were lower in CD patients as compared with control group (p values = 0.038, 0.024, 0.002, 0.038 and 0.046 respectively). ECD and CMT were lower in celiac patients whom endomysial antibodies (EMA) IgA were positive (p = 0.001, p = 0.042 respectively). Tissue transglutaminase IgA antibody (anti tTG IgA) was weakly positively correlated (p > 0.05) with ACD, and positively (r = 0.319; p < 0.05) correlated with ACV. As the duration of compliance to the diet increased in the celiac group the mean and inferior retinal nerve fiber layer (RNFL) thickness decreased (p = 0.035, p = 0.008 respectively). Mean, inferior and temporal RNFL thicknesses were lower in celiac patients whose duration of GFD was longer than 5 years (p < 0.05). CONCLUSIONS: Decreases in ECD, ACA degree, ACD, ACV and CMT can occur in CD patients. In adult celiac patients; ECD, CMT might be effected in the presence of positive EMA, and ACD, ACV might be effected in the presence of higher anti tTG IgA titer. Adult celiac patients who had longer duration of GFD may have thinner RNFL. RNFL may be thinner in celiac patients who comply with GFD for more than 5 years.

Toric intraocular Collamer lens for high myopic astigmatism after penetrating keratoplasty.

A toric intraocular Collamer lens (ICL) was used to correct myopic astigmatism after penetrating keratoplasty. The patient's manifest refraction improved from -8.0 -1.75 x 170 preoperatively, with an uncorrected distance visual acuity (UDVA) of 0.15 and a corrected distance visual acuity (CDVA) of 0.4, to +0.75 -0.50 x 130 postoperatively, with a UDVA of 0.8 and a CDVA of 1.0. No serious complications or refractive changes occurred during the 1-year follow-up. Implantation of a myopic toric ICL in phakic eyes is an option to correct postkeratoplasty anisometropia and astigmatism.