ABSTRACT
Purpose@#We report ocular manifestations in two patients with 7q microdeletion. Case summary: (Case 1) A 62-day-old male infant was admitted to the ophthalmology outpatient department for ocular examination after being diagnosed with microdeletion of chromosome seven (7q36.2q36.3 deletion) in DNA microarray comparative genomic hybridization (DNA microarray CGH) and fluorescence in situ hybridization (FISH) tests. Fundus examination showed optic disc hypoplasia in both eyes and retinopathy of prematurity, accompanied by retinal hemorrhage in his right eye. Around the age of 24 months, the patient was diagnosed with intermittent exotropia with anisometropia and was prescribed spectacles. (Case 2) A 3-year-old male infant was referred to the ophthalmology clinic to evaluate poor fixation, which was found during rehabilitation therapy for cerebral palsy and developmental delay. Fundus examination showed an increased cup/disc ratio bilaterally. A flash visual evoked potential test indicated a decrease in amplitude in his right eye. Intermittent exotropia of forty prism diopters was observed. DNA microarray CGH and FISH tests performed at another hospital revealed microdeletion of chromosome seven (7q35 microdeletion) and CNTNAP2 gene loss. @*Conclusions@#When genetic anomalies associated with ocular development are identified, it is necessary to detect the ophthalmic abnormalities early and provide the appropriate treatment to allow for the development of normal visual function.
ABSTRACT
Purpose@#We report ocular manifestations in two patients with 7q microdeletion. Case summary: (Case 1) A 62-day-old male infant was admitted to the ophthalmology outpatient department for ocular examination after being diagnosed with microdeletion of chromosome seven (7q36.2q36.3 deletion) in DNA microarray comparative genomic hybridization (DNA microarray CGH) and fluorescence in situ hybridization (FISH) tests. Fundus examination showed optic disc hypoplasia in both eyes and retinopathy of prematurity, accompanied by retinal hemorrhage in his right eye. Around the age of 24 months, the patient was diagnosed with intermittent exotropia with anisometropia and was prescribed spectacles. (Case 2) A 3-year-old male infant was referred to the ophthalmology clinic to evaluate poor fixation, which was found during rehabilitation therapy for cerebral palsy and developmental delay. Fundus examination showed an increased cup/disc ratio bilaterally. A flash visual evoked potential test indicated a decrease in amplitude in his right eye. Intermittent exotropia of forty prism diopters was observed. DNA microarray CGH and FISH tests performed at another hospital revealed microdeletion of chromosome seven (7q35 microdeletion) and CNTNAP2 gene loss. @*Conclusions@#When genetic anomalies associated with ocular development are identified, it is necessary to detect the ophthalmic abnormalities early and provide the appropriate treatment to allow for the development of normal visual function.
ABSTRACT
Purpose@#To evaluate peripapillary and macular vessel density changes in glaucoma patients after lowering intraocular pressure (IOP) by trabeculectomy, using optical coherence tomography (OCT) angiography. @*Methods@#A retrospective study was conducted on 20 glaucomatous eyes that underwent trabeculectomy. Preoperative and postoperative IOP, peripapillary retinal nerve fiber layer (RNFL) thickness, macular ganglion cell-inner plexiform layer thickness, peripapillary and macular vessel density measured by OCT, and OCT angiography were analyzed by the Wilcoxon signed-rank test. A regression analysis was performed to identify the factors influencing the change in vessel density. @*Results@#The mean IOP was 31.0 ± 11.80 mmHg prior to surgery, 11.47 ± 4.52 mmHg at 1 month (p < 0.001), and 11.52 ± 3.34 mmHg at 6 months (p < 0.001). Peripapillary RNFL thickness (p = 0.002) increased significantly 6 months postoperatively. Peripapillary vessel density increased significantly 6 months after surgery (p = 0.007) and the magnitude of the reversal of peripapillary vessel density was significantly associated with a greater reduction in IOP (p < 0.001), and the lower preoperative peripapillary vessel density value (p = 0.003) and change in peripapillary vessel density increased significantly. The improvement in peripapillary RNFL thickness was associated with a greater reduction in the IOP (p = 0.011). @*Conclusions@#Measuring peripapillary vessel density using OCT angiography was useful to identify the reversible changes in optic nerve damage caused by reducing IOP after trabeculectomy.
ABSTRACT
Purpose@#To evaluate the intraocular pressure (IOP) reduction, success rate and prognostic factors after trabecular micro-bypassstent implantation in patients with open-angle glaucoma. @*Methods@#We retrospectively reviewed 33 eyes of 33 patients with open-angle glaucoma who were followed-up for more than6 months after trabecular micro-bypass stent implantation. The success of surgery was defined as an IOP ≤ 21 mmHg and anIOP reduction ≥ 20% from baseline, regardless of whether glaucoma medication was used. @*Results@#During the follow-up at 6 months after trabecular micro-bypass stent implantation, the IOP was significantly decreasedfrom 23.70 ± 6.26 mmHg before surgery to 18.03 ± 4.64 mmHg after 6 months, and the glaucoma medication was significantlydecreased from 3.73 ± 0.67 before surgery to 3.43 ± 0.67 after 6 months (p < 0.001 and p = 0.027, respectively). The successrate at 6 months was 33.7 ± 5.5% in patients with only trabecular micro-bypass stent implantation. Using multiple regressionanalyses of the risk factors, age was associated with success rate (odds ratio, 1.076; 95% confidence interval, 0.996-1.164;p = 0.045). @*Conclusions@#In patients in the Republic of Korea, trabecular micro-bypass stent implantation was an effective surgery for IOPreduction, and showed a better surgical success rate in younger patients.
ABSTRACT
Purpose@#To report a case of multiple retinal capillary hemangioma associated with neurofibromatosis type 1 and resulting neovascularglaucoma.Case summary: A 13-year-old boy was admitted with complaint of visual disturbance and dull pain in his left eye which had beguntwo weeks prior. Lisch nodules were observed in his left iris and corneal opacity with neovascularization of the iris and anglewere detected in the same eye. Multiple retinal capillary hemangiomas with increased tortuosity and congestion of feeding retinalvessels were observed on the upper equator of the left retina; in addition, vitreous hemorrhage was observed. There were noother abnormalities except iris mammillations in the right eye. Numerous café au lait macules were observed on the patient’s entirebody. He also exhibited axillary freckling. On brain magnetic resonance imaging, T2-weighted signal intensity was increasedin the basal ganglia, left thalamus, and cerebellar white matter; however, no vessel abnormalities were observed on magneticresonance angiography. High intraocular pressure (IOP) persisted despite the use of IOP lowering agents and IOP was normalizedafter trabeculectomy with mitomycin C administration. @*Conclusions@#This case shows that multiple retinal capillary hemangiomas can be accompanied by neurofibromatosis type 1,which may result in neovascular glaucoma.
ABSTRACT
PURPOSE: To assess the agreement and compare the performance of glaucoma diagnosis of peripapillary retinal nerve fiber layer (RNFL) thickness measurements between two different spectral-domain optical coherence tomography (SD-OCT) devices. METHODS: Eighty nine eyes of 56 patients with glaucoma and 42 eyes of 25 healthy individuals were imaged with Cirrus and Spectralis OCT in a single visit. Agreement between RNFL thickness measurements was assessed using intraclass coefficient (ICC) and Bland-Altman plots. The discriminating abilities of the two techniques for detection of glaucoma were compared by the area under the receiver operating characteristic curves (AUC) for quadrants and average RNFL thickness. RESULTS: ICC values for agreement between both instruments were good for quadrants and average RNFL thickness (all ≥ 0.81). However, Spectralis OCT measurements were significantly greater than Cirrus OCT for temporal quadrant (difference = 4.27 µm in normal group, 3.91 µm in glaucoma group, p < 0.001 for both). The RNFL thickness parameter with the largest AUCs was the average RNFL thickness for the Spectralis OCT and the Cirrus OCT (0.85 vs. 0.87, p = 0.30). The pair-wise comparison among the receiver operating characteristic curves showed no statistical difference for all parameters. CONCLUSIONS: Although Spectralis OCT measurements were significantly greater than Cirrus OCT for temporal quadrant, agreement of RNFL measurement between both the devices was generally good and there was no statistically significant difference in the performance of glaucoma diagnosis between both instruments.