Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa

Here, we report early treatment outcomes of gene therapy for early onset retinitis pigmentosa (RP) (Leber congenital amaurosis) associated with biallelic RPE65 mutation in a 30-year-old female patient. Initially, her visual acuity (VA) was 20/200, and her visual field (VF) was severely constricted to the center in the left eye. Her electroretinography showed nearly extinct signals. Full-field stimulus threshold test (FST) revealed diminished dark-adapted light sensitivity. Voretigene neparvovec-rzyl (VN) is the first in vivo viral gene therapy agent to be approved. At 3 months after subretinal injection of VN in the left eye, VA, VF, and FST showed sustained improvement. She did not exhibit any signs of adverse effects from the treatment. Gene therapy for RP proved to be an effective and safe treatment in an advanced case of RPE65-associatied early onset RP.

New Method of Quantitative Analysis of Hard Exudate Using Optical Coherence Tomography: Application in Diabetic Macular Edema

PURPOSE: In the present study, the volume of hard exudates (HEs) was quantitatively measured using optical coherence tomography (OCT) and the agreement and correlation with area of HEs in fundus photography were analyzed. METHODS: The medical records of patients with diabetic macular edema who underwent focal laser treatment and were followed up more than 3 months were retrospectively evaluated. An automated customized program designed for measuring HE volume was used. The HEs in each OCT B-scan binary image were measured using 512 × 128 pixels, 6 mm × 6 mm OCT cube scans. The volume was measured by summing the segmented HEs in each 128 B-scan image. The area was measured in 6 mm x 6 mm fundus photography. The volume and area were measured before and 3 months after the treatment. The agreement of increase and decrease in HEs, and the correlation of volume and area of HEs were analyzed. RESULTS: A total of 35 patients (39 eyes) were included in the study. The volume was significantly reduced from 0.07978 to 0.02565 mm³ at 3 months (p < 0.001). The area was also significantly reduced from 15.35 to 8.60 mm² at 3 months (p < 0.001). The volume was decreased in 34 eyes and increased in 5 eyes. The area was decreased in 37 eyes and increased in 2 eyes. A significant correlation between volume and area was found (p < 0.001) as well as agreement between increase and decrease in volume and area. CONCLUSIONS: In the 3-dimensional quantitative volumetric analysis, the volume and area of HEs were correlated and the direction of increase and decrease was concordant. Considering the distribution of HEs in multiple layers of the retina, volumetric analysis could be considered a substitute for the analysis of HE area.

The Correlation between Tear Matrix Metalloproteinase-9 Concentration and Clinical Findings in Dry Eye Disease

PURPOSE@#To investigate the correlation between the matrix metalloproteinase-9 (MMP-9) concentration, and subjective symptoms and objective signs in dry eye patients.@*METHODS@#We retrospectively reviewed the medical records of 134 eyes of 67 patients who were diagnosed with dry eye disease. The results of tear MMP-9, which were conducted at a care testing facility, were defined as negative (N), equivocal (E), weak positive (W), positive (P) or strong positive (S). Using three methods with different classification ranges, MMP-9 results were classified into a negative group or positive group. The objective signs of dry eye disease, including tear break-up time (TBUT), tear volume measured by Schirmer's test, degree of corneal erosion estimated by the Oxford stain score (OSS), and ocular surface disease index (OSDI) as the subjective symptom, were recorded. The differences of indices were compared between the negative and positive groups.@*RESULTS@#There was no significant difference of the TBUT, Schirmer's test, or OSS between the MMP-9 negative and positive groups. Also, the percentage of females was significantly higher in the negative group compared with the positive group regardless of the classification methods (all, p < 0.05). When the MMP-9N alone was classified as a negative group, the OSDI score was significantly higher in the positive group when compared to that of the negative group (p = 0.009).@*CONCLUSIONS@#The measurement of MMP-9 in patients with dry eye disease may be helpful in predicting subjective symptoms of dry eye disease.

Characteristics of Patients Who Are Not Responsive to Alternate Patching for Overcorrected Intermittent Exotropia

PURPOSE: To compare the characteristics of patients with surgically overcorrected intermittent exotropia treated with alternate patching. METHODS: The medical records of 51 patients who underwent bilateral lateral rectus muscle recession for intermittent exotropia and required alternate patching to correct postoperative overcorrection were retrospectively reviewed. Patients with postoperative esodeviation ≥18 prism diopters (PD) were started on alternate patching on postoperative day 1, whereas those with postoperative esodeviation of 10 to 17 PD were started after 2 weeks. Postoperative esodeviation <10 PD was considered as slight intentional overcorrection after exotropia surgery. Patients not responsive to alternate patching treatment were defined as those with postoperative esodeviation ≥10 PD after 3 months of treatment. Sex, family history, age, refractive error, amblyopia, stereopsis, suppression, type of exotropia, surgical method, preoperative and postoperative angle of deviation, and start time of alternate patching were compared. RESULTS: Among 51 patients, 29 patients responded to alternate patching and 22 patients did not respond. Female sex (p = 0.04), larger preoperative exodeviation at distance (p = 0.04), late onset of postoperative maximal esodeviation (p < 0.01), larger postoperative maximal esodeviation at near (p = 0.02), and late initiation of alternate patching (p = 0.01) were associated with patients in the non-responsive group. Although postoperative angle of deviation was similar for 2 weeks, the angle of postoperative esodeviation was significantly larger in the non-responsive group than in the responsive group, beginning at 1 month postoperatively. CONCLUSIONS: Female sex, large preoperative exodeviation, late initiation of alternate patching, and large esodeviation 1-month postoperative predisposed patients to be resistant to alternate patching for postoperative overcorrection.

Congenital Bilateral Inferior Rectus Muscle Absence with A-type Exotropia

No abstract available.

The Association of Postsurgical Gastritis with Duodenogastric Reflux in Patients with Billroth-II Gastrectomy / 대한소화관운동학회지

BACKGROUND/AIMS: It is suggested that postsurgical gastritis is mainly caused by the enterogastric reflux, but the pathogenesis and association with symptoms are not clearly established. The aims of this study were to investigate the role of duodenogastric reflux in postsurgical gastritis and to evaluate the relationship between an intragastric pH study and an intragastric bile reflux study. METHODS: The 33 patients with Billroth-II gastrectomy and 10 healthy volunteers were enrolled. After the endoscopy, we performed a simultaneous intragastric pH and a bile reflux study. RESULTS: The symptomatic patients with Billroth-II gastrectomy showed a greater increase in bilirubin reflux than the asymptomatic patients and normal controls. There was a significant association of gastritis with the presence of symptoms, but not with duodenogastric reflux. Intragastric bile reflux(% time> bilirubin absorbance 0.14) was not closely related with intragastric pH(% time> pH 4). CONCLUSIONS: The duodenogastric reflux was associated with symptoms but not with postsurgical gastritis. There was no close relationship between the intragastric pH study and the intragastric bile reflux study.