PurposeTo describe clinical findings in a Korean family with Axenfeld-Rieger syndrome.MethodsA retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and buccal mucosal epithelial cells were obtained from seven members of a family with Axenfeld-Rieger syndrome. DNA was extracted and amplified by polymerase chain reaction, followed by direct sequencing.ResultsThe affected members showed iris hypoplasia, iridocorneal adhesions, posterior embryotoxon, and advanced glaucoma in three generation. None had systemic anomalies. Two mutations including c.1362_1364insCGG and c.1142_1144insGGC were identified in forkhead box C1 in four affected family members.ConclusionsThis study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome.

ObjectivesTo estimate the costs and healthcare resources of patients with diabetic macular oedema (DME) who received intravitreal antivascular endothelial growth factor (anti-VEGF) agents or a dexamethasone intravitreal implant (DEX-implant) in Korea.DesignRetrospective cohort study.SettingThe Korean National Health Insurance claim data from 1 January 2015 to 30 June 2017 were retrieved from the Health Insurance Review and Assessment Service.ParticipantsAdult patients with DME who were diagnosed with diabetic retinopathy or DME and received ranibizumab, aflibercept or a DEX-implant in conjunction with intravitreal injection were included. Patients whose primary diagnoses were age-related macular degeneration or retinal vein occlusion were excluded.Main outcome measuresHealthcare resource utilisation and costs related to DME in the 12-month postindex period.ResultsDuring the study period, 182 patients and 414 patients were identified in the anti-VEGF and DEX-implant groups, respectively, and there was no significant difference in the demographic characteristics between the two groups. The outpatient eye care-related medical costs were US$3002.33 for the anti-VEGF group vs US$2250.35 for the DEX-implant group (p<0.0001). After adjusting the relevant covariates based on the generalised linear model, the estimated outpatient eye care-related medical costs were 33% higher in the anti-VEGF group than in the DEX-implant group (p<0.0001, 95% CI 22% to 45%). The utilisation pattern of the two groups showed no significant difference except for the number of intravitreal injections, which was higher in the anti-VEGF group (2.69±2.29) than in the DEX-implant group (2.09±1.37, p<0.001).ConclusionThe average annual eye-related medical cost of the DEX-implant group was significantly lower than that of the anti-VEGF group during the study period, which was mainly due to decreased utilisation of eye care-related injections. Further long-term studies are needed.

Objective: We aimed to evaluate the feasibility, acceptability, and potential impact of a tele-guided digital-based intervention based on the addictive appetite model of recurrent binge eating.Method: Female college students with bulimia nervosa (BN) or binge-eating disorder (BED) (n = 22) received a 6-week guided intervention targeting addictive processes and emotion regulation. The feasibility of the intervention was evaluated, and the outcomes were assessed at baseline, the end of the intervention, and 1-month follow-up.Results: Of the participants, 86.4% (n = 19) completed the intervention. The self-help materials were viewed 6.03 ± 3.06 times per week, and the duration of using the self-help materials was 113.16 ± 160.19 min/week. The intervention group experienced a significant reduction with a moderate effect on binge eating at the end of the intervention (Hedges' g = 0.58), and the effects lasted through follow-up (Hedges' g = 0.82).Discussion: The results suggest that the digital intervention targeting a maintenance mechanism of recurrent binge eating was feasible and acceptable for patients with BN and BED, proving the potential for symptom improvement.

To report a novel mutation within the CHST6 gene, as well as describe light and electron microscopic features of a case of macular corneal dystrophy. A 59-year old woman with macular corneal dystrophy in both eyes who had decreased visual acuity underwent penetrating keratoplasty. Further studies including light and electron microscopy, as well as DNA analysis were performed. Light microscopy of the cornea revealed glycosaminoglycan deposits in the keratocytes and endothelial cells, as well as extracellularly within the stroma. All samples stained positively with alcian blue, colloidal iron, and periodic acid-Schiff. Electron microscopy showed keratocytes distended by membrane-bound intracytoplasmic vacuoles containing electron-dense fibrillogranular material. These vacuoles were present in the endothelial cells and between stromal lamellae. Some of the vacuoles contained dense osmophilic whorls. A novel homozygous mutation (c.613 C>T [p.Arg205Trp]) was identified within the whole coding region of CHST6. A novel CHST6 mutation was detected in a Korean macular corneal dystrophy patient.

The ICare tonometer is a suitable alternative device for use in patients with tight orbit syndrome in whom the IOP may be overestimated with the GAT. The prolonged use of PGAs is significantly associated with the development of tight orbit syndrome.