Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.

BACKGROUND: Autoimmune polyglandular syndrome type 1 (APS1) is a rare autosomal recessive disorder due to mutations in the AIRE gene. AIM: To report the ocular features and characterise the retinal phenotype in molecularly confirmed APS1. METHOD: This retrospective case series reviewed five molecularly confirmed cases with APS1 known to have ocular involvement (age range: 19 months-44 years; mean follow-up of 8 years). The medical history, ocular history and evaluation, visual field testing, full-field electroretinogram (ERG) and antiretinal antibody results were reviewed. RESULTS: All but one case had decreased vision at first presentation. All cases had peripheral pigmentary retinal changes; macular atrophy was noted in 80% of cases. The most common feature on spectral-domain optical coherence tomography was a disruption of the external limiting membrane and inner segment ellipsoid band (n=3). Fundus autofluorescence imaging demonstrated a parafoveal ring of hyper-autofluorescence (n=1) or a stippled and patchy autofluorescence pattern in the macula (n=1). The visual fields were constricted in all tested patients (n=3). The rod ERG was abnormal in all cases; the relative involvement of rods and cones differed. Four patients who were tested for antiretinal antibodies were found positive by immunohistochemistry (n=3) and/or western blot (n=2). CONCLUSIONS: Photoreceptor degeneration is part of APS1 phenotype and the presence of antiretinal antibodies strongly supports an aetiology similar to that of non-paraneoplastic autoimmune retinopathy. Periodic retinal evaluation and imaging, visual field testing and ERG would assist in monitoring the retinopathy in APS1-related disease.

Risk Factors for a Severe Bleb Leak Following Trabeculectomy: A Retrospective Case-Control Study.

PURPOSE: To describe the population at risk of having a severe bleb leak needing a surgical repair in the operating room and to study risk factors associated with severe bleb leak. PATIENTS AND METHODS: In this case-control study, 17 cases were enrolled and paired with 51 controls. We studied all patients having a surgical revision in our center for a severe bleb leak between January 1 and December 31, 2008. Three controls were paired to each case based on their surgery date. We then analyzed risk factors related to the patient, the intervention, and the postoperative follow-up. RESULTS: Younger age was the only statistically significant risk factor for a severe bleb leak in our study. The odds of a severe bleb leak decreased as the age increased (P=0.0029). In comparing the risk for a severe bleb leak in younger (below 55 y) versus patients aged 75 years or older, the odds ratio was 21.0. There were no statistically significant differences between cases and controls with respect to: type of glaucoma, number or types of previous ocular surgeries, number of preoperative topical medications, localization of the leak, localization of the wound (fornix or limbus-based), or the intraocular pressure on day 1 postoperative. CONCLUSIONS: Younger age at the time of trabeculectomy may be a risk factor for severe bleb leak. A trend was observed in which the patients under the age of 55 years were at greater risk for a severe bleb leak.

Optic neuropathy in thyroid eye disease: results of the balanced decompression technique.

OBJECTIVE: To determine the efficacy of combined endoscopic medial and external lateral orbital decompression for the treatment of compressive optic neuropathy (CON) in thyroid eye disease (TED). DESIGN: A retrospective review of all patients undergoing combined surgical orbital decompression for CON between 2000 and 2010 was conducted. PARTICIPANTS: Fifty-nine eyes of 34 patients undergoing combined surgical orbital decompression for CON. METHODS: Clinical outcome measures included visual acuity, Hardy-Rand-Rittler (HRR) colour plate testing, relative afferent pupillary defect, intraocular pressure measurement, and Hertel exophthalmometry. A CON score was calculated preoperatively and postoperatively based on the visual acuity and the missed HRR plates. A higher CON score correlates with more severe visual dysfunction. RESULTS: All patients had improvement of their optic neuropathy after surgical decompression. CON score was calculated for 54 eyes and decreased significantly from a mean of 13.2 ± 10.35 preoperatively to a mean of 8.51 ± 10.24 postoperatively (p < 0.0001). Optic neuropathy was completely resolved in 93.22% (55/59 eyes). Eighteen of 34 patients (52.94%) experienced development of new-onset postoperative strabismus that required subsequent surgical intervention. CONCLUSIONS: Endoscopic medial combined with external lateral orbital decompression is an effective technique for the treatment of TED-associated CON.