Spectrum and visual outcomes of Vogt-Koyanagi-Harada disease in Argentina.

AIM: To review all cases of Vogt-Koyanagi-Harada (VKH) disease in an Inflammatory Eye Disease Service in Argentina and to describe the clinical profile and outcomes of treatment. METHODS: The records from patients with VKH disease between January 1980 and December 2008 were retrospectively analyzed for clinical profile, complications, and treatment. Patients were classified according to their initial treatment in group 1: high corticosteroid dose [≥1 mg/(kg·d)] within 2wk of illness onset; group 2: high corticosteroid dose, 2 to 4wk of onset and group 3: patients who received the high dose after 1mo of illness onset, patients who received lower oral doses than 1 mg/(kg·d) without regarding the time of beginning of the disease. RESULTS: A total of 210 eyes of 105 patients were included. The mean age at presentation was 32.6±13y (range: 10-74y), and 86.7% were female. The mean duration of follow up was 144±96.6mo. Patients in the group 1 had significantly higher visual acuity than the other groups (P<0.0001), none had (loss of, or no) light perception at the end of follow up, whereas 24.7% patients in group 3 ended in light perception (P<0.004). CONCLUSION: Patients with early high dose corticosteroid treatment have better visual acuity and fewer complications. Proper timing in referral and treatment is critical for better visual outcome in VKH disease.

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.

Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations. Tietz syndrome is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides. In this paper, we report two unrelated families with MITF mutations. The first family showed an autosomal dominant pattern and variable expressivity. The second patient was isolated. MITF gene analysis in the first family demonstrated a c.648A>C heterozygous mutation in exon 8 c.648A>C; p. (R216S), while in the isolated patient, an apparently de novo heterozygous c.1183_1184insG truncating mutation was demonstrated in exon 10. All patients except one had bilateral reduced ocular anteroposterior axial length and a high hyperopic refractive error corresponding to posterior microphthalmos, features that have not been described as part of the disease. Our results suggest that posterior microphthalmos might be part of the clinical characteristics of Tietz/Waardenburg syndrome type 2A and expand both the clinical and molecular spectrum of the disease. © 2016 Wiley Periodicals, Inc.

Thoracoscopic management of primary spontaneous pneumothorax.

Primary spontaneous pneumothorax is defined as that which appears in patients without history of previous pathology that could explain the event. Management includes pleural drainage with or without pleurodesis and surgical resection of affected lung tissue with pleurodesis. Thoracoscopic approach has proved to be useful with low morbidity and mortality as well as low recurrence rate. This paper describes the experience with thoracoscopic management of primary spontaneous pneumothorax with pulmonary wedge resection of affected tissue, parietal pleurectomy, and pleural abrasion of remaining parietal and diaphragmatic pleura. Fifty-five patients have been submitted to this approach (24 female, 31 male). Fifty-three patients had past history of at least one previous pneumothorax (second event, n=41; third event, n=9; fourth event or more, n=3). Computed tomography was abnormal in 19 patients. Operative time was 57 minutes (+/-17). There were no transoperative complications. Macroscopic findings were presence of small type I bullae in the lung apex in 48; three more had apical pleural thickening. None of the patients presented postoperative air leak. Chest tubes were removed after 24-48 hours on average. Adequate pain control was achieved in 51 patients; 4 patients presented mild chronic intercostal pain for 3-5 months. Median follow-up was 48 months (range 6-72); no recurrence has been observed. Primary spontaneous pneumothorax can be managed thoracoscopically; management should include wedge resection of affected lung, apical pleurectomy, and pleural abrasion of remaining parietal and diaphragmatic pleura.