Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.

BACKGROUND: Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal detachment. CASE PRESENTATION: Both cases exhibited high myopia and various degrees of occipital skull defect. The first case, a female, had bilateral congenital retinal detachment, posterior embryotoxon, and strabismus. The second case, a male, had unilateral congenital retinal detachment and neuromotor developmental delay. The first case, diagnosed in the early months of life, underwent successful retinal reattachment surgery. However, surgery was not performed on the second case, who presented with late-stage unilateral retinal detachment and pre-phthisis. CONCLUSIONS: The report describes two patients with Knobloch syndrome, one of whom responded favorably to surgery for retinal detachment in both eyes. Successful anatomical results were achieved with early surgical interventions. It is essential to recognize the phenotypic and genetic heterogeneity within KNO.

Treatment results of diabetic macular edema with different choroidal thickness with intravitreal anti vascular endothelial growth factor.

PURPOSE: To compare the results of intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy in patients with diabetic macular edema (DME) with different choroidal thicknesses. METHODS: The files of patients diagnosed with DME and treated with intravitreal anti-VEGF were reviewed retrospectively. The best-corrected visual acuity (BCVA), choroidal thickness (CT), and macular thickness (MT) measurements were recorded before and after treatment. All patients included in the study were divided into 3 groups according to the initial subfoveal choroidal thickness (SFCT). Group 1 included 35 patients with SFCT ≤ 220, group 2 included 27 patients with SFCT > 220 ≤ 270, and group 3 included 30 patients with SFCT > 270. The total number of anti-VEGF administered during the follow-up at the last examination, baseline and post-treatment CT, MT, and BCVA measurements were statistically compared in all 3 groups. RESULTS: The mean age of the patients was 61.9 ± 10.2 in group 1, 58.7 ± 8.7 in group 2, and 57.0 ± 6.5 in group 3. The mean anti-VEGF count in group 1 was significantly lower than group 2 and group 3 (p = 0.004, p = 0.006). In Group 1, BCVA improved significantly after treatment compared to baseline (p = 0.001). In Groups 2 and 3, BCVA did not change significantly after treatment compared to baseline (p = 0.320, p = 0.104). After treatment, central macular thickness decreased significantly in group 1 compared to baseline, while central macular thickness did not show a significant change from baseline in group 2 and group 3 after treatment (p = 0.003, p = 0.059, p = 0.590). CONCLUSION: In our study, we observed that the treatment needs of our DME patients with different choroidal thicknesses were different. In patients with DME, the initial choroidal thickness may help determine the need for follow-up and treatment.

Comparison of Adult Refractive Disorder Measurements Using HandyRef-K, Retinomax, Plusoptix, and Table-top Autorefractometer Devices.

OBJECTIVES: This study was conducted to compare refractive error measurements recorded using the Nidek HandyRef-K handheld autorefractometer (HDY; Nidek Co. Ltd., Tokyo, Japan), Plusoptix A09 photorefractor (PO; Plusoptix GmbH, Nuremberg, Germany), Retinomax K-plus 3 (RTX; Right Mfg. Co. Ltd., Tokyo, Japan), and a table-mounted autorefractometer/keratometer (TTR; URK 800, Unicos Co. Ltd., Daejeon, Republic of Korea). METHODS: Patients aged ≥18 years underwent measurement of refraction without cycloplegia using 4 devices and the spherical power (SP), cylindrical power (CP), and spherical equivalent (SE) values were analyzed and compared. RESULTS: A total of 181 eyes of 181 patients were enrolled in the study. The mean age of the patients was 33.08±0.95 years (range: 18-79 years). There was a significantly significant difference in the SP, CP, and SE values determined by the devices (p<0.001). The SP and SE values of the RTX and the HDY were similar, while the other device results were different (Wilcoxon signed-rank test, p=0.004). The CP values of the PO and the TTR, the HDY and the TTR were also comparable. CONCLUSION: The HDY, RTX, and the PO are suitable for screening in clinical practice, but the findings strongly suggest that they should be used with caution.

New Insights into Diabetic and Vision-Threatening Retinopathy: Importance of Plasma Long Pentraxine 3 and Taurine Levels.

PURPOSE: To investigate diabetic retinopathy (DR), plasma long pentraxin-3 (PTX-3) and taurine levels, and systemic factors in patients with type 2 diabetes mellitus (DM). MATERIALS AND METHODS: Patients with type 2 DM were categorized based on the presence of DR and maculopathy. Retinal findings (retinopathy, maculopathy, flame-shaped hemorrhage, intraretinal microvascular abnormalities, neovascularization of the optic disc, neovascularization elsewhere, and soft exudate); laboratory findings (fasting blood glucose, glycosylated hemoglobin [HbA1c], Taurine, PTX-3); systolic blood pressure (SBP) and diastolic blood pressure (DBP) were analyzed. RESULTS: In this study, 39 patients with a mean age of 59.5 ± 8.1 years were included. The mean taurine level was significantly lower (p = .025) and HbA1c values were significantly higher (p = .0001) in patients with and without DR, respectively. In patients with varying severity of DR, a significant difference in the plasma taurine level was found (p = .0001). The mean PTX-3 level decreased with the severity of retinopathy; however, there was no significant difference in levels among the grading groups (p = .732). Taurine and PTX-3 levels were significantly lower in patients with maculopathy (p = .001 and p = .022, respectively) and significantly higher in patients with grade 0 maculopathy than in those with grade 1, 2, or 3 maculopathy (p = .023, p = .01, and p = .01, respectively). Patients with flame-shaped hemorrhage had significantly lower PTX-3 levels (p = .009) and higher SBP and DBP levels (p = .003, p = .023) than those without the hemorrhage. CONCLUSIONS: No significant relation between PTX-3 level and severity of DR was found. HbA1c, taurine, and PTX-3 levels in patients with vision-threatening DR symptoms were significantly different from those without these symptoms. Management of systemic blood pressure and glycemic control is mandatory in the follow-up of DR, and increasing the plasma taurine levels can prevent vision loss.

HandyRef-K: Comparison of the Latest Handheld Auto Refracto-keratometer with Retinomax and Plusoptix in Patients Younger than Three Years of Age.

OBJECTIVES: The purpose of the study was to compare the refractive error measurements of pediatric patients performed with a Plusoptix A09 photorefractor (PO; Plusoptix AG, Nuremberg, Germany), a Retinomax K-plus 3 (RTX; Right Group, Tokyo, Japan), and the new handheld auto refracto-keratometer, the Nidek HandyRef-K (HDY; Nidek SA, Créteil, France), and to evaluate the intermethods agreement. METHODS: A total of 194 eyes of 194 children were included in the study. All of the children underwent refraction measurement with the PO before cycloplegia and 2 autorefractors were used after cycloplegia: the RTX and the HDY. RESULTS: The mean age of the patients was 16.65±10.04 months (range: 3-34 months). There were no statistically significant differences between the spherical values (SV) or cylindrical axis values (CAV) measured with the PO (SV: 1.61±1.79 diopters [D]; CAV: 94.25±72.47 D), the RTX (SV: 1.91±2.06 D; CAV: 94.3±73.44 D), and the HDY (SV: 1.89±2.04 D; CAV: 93.55±73.71 D) (p>0.05).There was a statistically significant difference in the cylindrical values (CV) assessed with the RTX (CV: -0.97±0.75 D) and the HDY (CV: -1.11±0.76 D) (p=0.003) and the HDY and the PO (CV: -0.92±0.68 D)(p=0.002), while there was no statistically significant difference between the values determined with the RTX and the PO (p>0.05). Statistically significant differences were demonstrated for spherical equivalent values (SEV) obtained with the RTX (SEV: 1.43±1.97 D) and the PO (SEV: 1.15±1.74 D) (p=0.02), and the HDY (SEV: 1.34±1.95 D) and the PO (p=0.03), but no significant difference was found between the RTX and the HDY values (p>0.05). CONCLUSION: No significant difference was found between the SEV measured by the RTX and the HDY, but the PO was significantly less hyperopic than the RTX and the HDY. The CV measured by HDY was higher than that of other devices. These devices can be used for screening in crowded pediatric ophthalmology clinics and may be an easier way of measuring refractive errors in children younger than 3 years of age, but high SEV and CV results should serve as an alert to physicians. It should also be kept in mind that cycloplegic retinoscopy is still the gold standard and these alternative methods can only be used for screening. The prescription of eyeglasses should not be made without cycloplegic retinoscopy.

Focal laser photocoagulation in non-center involved diabetic macular edema.

This study was performed to evaluate the functional and anatomic outcomes of focal macular laser photocoagulation in eyes with non-center involved macular edema (non-CI ME). Forty-nine eyes of 43 patients with non-CI ME were included. Focal macular laser photocoagulation was conducted on twenty-nine eyes of 25 patients, while 20 eyes of 18 patients with non-CI ME were followed without treatment and served as the control group. Data relating to best corrected visual acuity (BCVA; Early Treatment Diabetic Retinopathy Study) and central subfield thickness (CST), inner zone thickness (IZT), outer zone thickness (OZT), and total macular volume (TMV) as determined by optical coherence tomography (OCT) were collected and compared between the groups. At 12 months, VA decreased by a mean of 0.4 letters in the treatment group and 3.3 letters in the control group (p=0.03). Gain in VA ≥5 letters was noted in 6 (21%) of the eyes in the treatment group versus 1 (5%) eye in the control group (p=0.12). At 12 months, average IZT decreased by 22.6 microns in the treatment group and increased by 10.9 microns in the control group (p<0.001). The treatment group revealed significant reduction in CST, average OZT, and TMV as compared to the control group at 12 months (all p<0.05).Generally, focal laser photocoagulation may have more favourable visual outcomes in this specific group of diabetic patients than does observation. In addition, focal laser treatment provided better outcomes with improvement in OCT parameters as compared to the control group.

Evaluation of contrast sensitivity after single intravitreal triamcinolone injection for macular edema secondary to branch retinal vein occlusion.

Purpose. To evaluate visual acuity (VA), contrast sensitivity (CS), and central retinal thickness (CRT) after intravitreal triamcinolone acetonide (IVT) injection for macular edema secondary to branch retinal vein occlusion (BRVO). Methods. In this prospective study, a total of 21 eyes of 21 patients were included. VA, CS, and CRT were assessed at baseline and at 1, 3, and 6 months after a single IVT injection. Results. Mean age was 64.57 ± 8.34 years. The mean baseline VA (LogMAR) increased from 1.11 ± 0.63 to 0.55 ± 0.39 (P < 0.001), 0.60 ± 0.40 (P < 0.001), and 0.78 ± 0.39 (P = 0.07) at 1, 3, and 6 months, respectively. The mean baseline CS (log CS) at 1 meter improved from 0.66 ± 0.49 to 1.11 ± 0.32 (P < 0.001), 0.99 ± 0.38 (P < 0.001), and 0.72 ± 0.37 (P = 0.8) at 1, 3, and 6 months, respectively. The mean baseline CS (log CS) at 3 meters improved from 0.34 ± 0.41 to 0.74 ± 0.41 (P < 0.001), 0.64 ± 0.44 (P = 0.036), and 0.46 ± 0.49 (P = 0.8) at 1, 3, and 6 months, respectively. The mean baseline CRT decreased from 511 ± 146 µm to 242 ± 119 µm, 277 ± 131 µm, and 402 ± 166 µm at 1, 3, and 6 months after IVT (P < 0.001 for each). Conclusion. Single IVT injection improved VA and CS and reduced CRT at 1 and 3 months of treatment. VA and CS returned to baseline levels at 6 months.

Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.

Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine aminotransferase enzyme. We report a 15-year-old female patient with complaints of bilateral photophobia and tearing, which started during the infancy period. Biomicroscopic examination revealed bilateral circular corneal opacities on the inferior quadrant and small dendritic lesions at the center of the circular opacities. Blood tests showed a tyrosine level of 508 micromol/L (normal range: 30-150). On her dermatologic examination, plantar hyperkeratosis and seborrheic dermatitis were noted, and mild mental retardation was detected. One and a half months after the tyrosine- and phenylalanine-restricted diet, her tyrosine level dropped to 395 micromol/L level, her corneal lesions subsided, and a symptomatic relief was achieved. Tyrosinemia type II should be suspected in patients demonstrating dermatologic signs, especially palmoplantar keratosis, associated with bilateral pseudodendritic corneal lesions unresponsive to antiviral therapy.