Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different PopulationsJohn H. Fingert, Elise Héon, J. M. Liebmann et al.|Human Molecular Genetics|1999 A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2-4% of primary open angle glaucoma patients. A total of 1703 patients was screened from five different populations representing three racial groups. There were 1284 patients from primarily Caucasian populations in Iowa (727), Australia (390) and Canada (167). A group of 312 African American patients was from New York City and 107 Asian patients from Japan. Overall, 61 different myocilin sequence variations were identified. Of the 61 variations, 21 were judged to be probable disease-causing mutations. The number of probands found to harbor such mutations in each population was: Iowa 31/727 (4.3%), African Americans from New York City 8/312 (2.6%), Japan 3/107 (2.8%), Canada 5/167 (3.0%), Australia 11/390 (2.8%) and overall 58/1703 (3. 4%). Overall, 16 (76%) of 21 mutations were found in only one population. The most common mutation observed, Gln368Stop, was found in 27/1703 (1.6%) glaucoma probands and was found at least once in all groups except the Japanese. Studies of genetic markers flanking the myocilin gene suggest that most cases of the Gln368Stop mutations are descended from a common founder. Although the specific mutations found in each of the five populations were different, the overall frequency of myocilin mutations was similar ( approximately 2-4%) in all populations, suggesting that the increased rate of glaucoma in African Americans is not due to a higher prevalence of myocilin mutations.
Intraocular Pressure Reduction in Normal-tension Glaucoma PatientsIn vivo increase of the human lens equatorial diameter during accommodationRonald A. Schachar, Celso Tello, Don P. Cudmore et al.|American Journal of Physiology-Regulatory, Integrative and Comparative Physiology|1996 The movement of the human lens equator during accommodation was examined in vivo. High-resolution ultrasound images of the lens equator were obtained from young human subjects whose amplitude of accommodation was controlled with 1% tropicamide and 2% pilocarpine. To avoid errors that otherwise arise from eye rotation or other movement, the cornea and sclera were used as positional references in comparative studies of the video images obtained from the unaccommodated and accommodated states. During accommodation, the movement at the lens equator involved small displacement; i.e., < 100 microns, and the equator did not move anteriorly or posteriorly but peripherally toward the sclera. These results indicate that the lens equator is under increased zonular tension during accommodation, in contradiction to Helmholtz's widely accepted theory of accommodation.
Baerveldt glaucoma implant insertion in the posterior chamber sulcusCelso Tello, Edgar M. Espana, Ricardo Mora et al.|British Journal of Ophthalmology|2007 AIM: To report the clinical outcome of a surgical technique for insertion of the silicone tube of a Baerveldt glaucoma implant (BGI) in the posterior chamber sulcus. METHODS: Non-comparative, interventional case series. Eight eyes of eight patients, with a follow-up of at least 18 months, who underwent insertion of a BGI with the silicone tube placed in the posterior chamber sulcus between 1998 and 2005 were included. Control of intraocular pressure (IOP), number of pressure-lowering medications, visual acuity and surgical complications were recorded. RESULTS: Eight eyes of eight patients (mean (range) age 76.4 (62-94) years) were included in the study. The IOP was reduced from a preoperative mean (SD) of 28.2 (14.4) to 12.6 (5.8) mm Hg at 18 months. The mean (SD) number of preoperative medications for IOP control was reduced from 2.8 (1.5) to 1.3 (1.5) medications in the same period. No complications were observed during surgery or follow-up. CONCLUSION: Placement of the silicone tube in the posterior chamber sulcus is a safe and effective alternative technique for IOP control in patients with pseudophakia. Sulcus placement may reduce the likelihood of corneal endothelial loss and avoid the need for pars-plana vitrectomy and posterior segment tube insertion in complicated eyes.
Recurrent bleb infectionsSamra Waheed, J. M. Liebmann, David S. Greenfield et al.|British Journal of Ophthalmology|1998 AIM: To report the patient characteristics, causative organisms, and clinical outcomes in patients with recurrent bleb related ocular infections. METHODS: The medical records of all patients diagnosed with bleb related ocular infection at the New York Eye and Ear Infirmary over a 10 year period were reviewed. Recurrent bleb infection was defined as at least two episodes of bleb purulence with or without associated intraocular inflammation separated by a quiescent period of at least 3 months. RESULTS: Recurrent bleb infections developed in 12 eyes of 12 patients (10 men, two women) a mean of 16.3 (SD 17.9) months (range 3-51 months) after the initial infection. Two patients developed a third episode 3 and 20 months, respectively, after the second infection, yielding a total of 14 recurrent infection episodes. Recurrent infection developed after trabeculectomy in 11 eyes (adjunctive 5-fluorouracil, nine eyes; mitomycin C, one eye; no antifibrosis agent, one eye) and following cataract extraction with inadvertent bleb formation in one eye. Four (36.4%) of the filtered eyes had undergone trabeculectomy at the inferior limbus. The mean follow up time from filtering surgery to the first bleb related infection was 28 months for the nine patients treated with 5-fluorouracil and 14 months for the single patient treated with mitomycin C. 11 (78.6%) cases had a documented bleb leak in the 4 week period before or at the time of recurrent infection. Topical, prophylactic antibiotics had been used in 7/14 (50%) cases. The same organism was cultured from the initial and recurrent infections in 2/14 (14.3%) cases. CONCLUSION: Eyes that have been successfully treated for bleb related infection remain at risk for recurrent infection. No apparent correlation exists between organisms responsible for the initial and recurrent infections. The increased rate of recurrent bleb related infection in patients receiving adjunctive 5-fluorouracil compared to mitomycin C may have been related to the longer follow up of the 5-fluorouracil eyes.