Robert M Schertzer

Age-dependent Prevalence of Mutations at the GLC1A Locus in Primary Open-angle Glaucoma

PURPOSE To screen a population with primary open-angle glaucoma for mutations in the gene that encodes the trabecular meshwork inducible glucocorticoid response protein (TIGR), also known as myocilin (MYOC). METHODS Ophthalmologic information was collected for study subjects with primary open-angle glaucoma and their relatives. Mutation screening of 74 primary open-angle glaucoma probands was conducted by sequencing TIGR/MYOC coding sequence and splice sites. RESULTS In 23 families we detected 13 nonsynonymous sequence changes, nine of which appear to be mutations likely to cause or contribute to primary open-angle glaucoma. Two mutations, Arg272Gly and Ile499Ser, and one nonsynonymous sequence variant, Asn57Asp, are novel. We found mutations in nine of 25 juvenile glaucoma probands (36%) and two of 49 adult-onset glaucoma probands (4%). Age classification of families rather than individual probands revealed mutations in three of nine families with strictly juvenile primary open-angle glaucoma (33%), and no mutations in 39 families with strictly adult-onset primary open-angle glaucoma (0%). In families with mixed-onset primary open-angle glaucoma containing both juvenile primary open-angle glaucoma and adult-onset primary open-angle glaucoma cases, we found mutations in eight of 26 families (31%). CONCLUSIONS Our data suggest that Gly252Arg, Arg272Gly, Glu323Lys, Gln368STOP, Pro370Leu, Thr377Met, Val426Phe, Ile477Asn, and Ile499Ser are likely to play roles that cause or contribute to the etiology of autosomal dominant primary open-angle glaucoma. Our finding of more TIGR/MYOC mutations in families with mixed-onset primary open-angle glaucoma than in the families with strictly adult-onset primary open-angle glaucoma implies that the presence of relatives with juvenile primary open-angle glaucoma in a family could be used as a basis for identifying a subset of the population with adult-onset primary open-angle glaucoma with higher prevalence of TIGR/MYOC mutations. To address this issue, and to refine estimations of mutation prevalence in these age-defined subpopulations, prospective study of a larger population ascertained entirely through adult-onset primary open-angle glaucoma probands will be needed.

Cystoid macular edema associated with latanoprost therapy in a case series of patients with glaucoma and ocular hypertension.

OBJECTIVE To identify coexisting ocular diagnoses in a case series of eyes that developed cystoid macular edema (CME) associated with latanoprost therapy. DESIGN Retrospective observational case series. PARTICIPANTS Seven eyes of seven patients who developed CME possibly associated with latanoprost treatment were studied. INTERVENTION When these patients, all of whom were treated with latanoprost in addition to other glaucoma medications, described blurred vision or eye irritation, ocular examination revealed CME, which was confirmed by fluorescein angiography. Latanoprost was discontinued, and in three cases topical corticosteroids and nonsteroidal anti-inflammatory agents were used to treat the CME. MAIN OUTCOME MEASURES Visual acuity and intraocular pressure were determined before latanoprost use began, during therapy, and after latanoprost use ceased. In these cases, resolution of CME was documented clinically after discontinuing latanoprost. RESULTS Clinically significant CME developed after 1 to 11 months of latanoprost treatment, with an average decrease of 3 lines in Snellen visual acuity. Intraocular pressure decreased an average of 27.9% during treatment. Cystoid macular edema was confirmed in all cases by fluorescein angiography. In these seven patients, the following coexisting ocular conditions may have placed these eyes at risk for prostaglandin-mediated blood-retinal barrier vascular insufficiency: history of dipivefrin-associated CME, epiretinal membrane, complicated cataract surgery, history of macular edema associated with branch retinal vein occlusion, history of anterior uveitis, and diabetes mellitus. In all cases, the macular edema resolved following discontinuation of latanoprost, in some instances with concomitant use of steroidal and nonsteroidal anti-inflammatory agents. CONCLUSIONS In this case series of pseudophakic, aphakic, or phakic eyes, the temporal relationships between the use of latanoprost and developing CME, and the resolution of CME following cessation of the drug, suggest an association between latanoprost and CME. In all cases, coexisting ocular conditions associated with an altered blood-retinal barrier were present.

Clinical course of phacoemulsification wound burns

PURPOSE To present 3 cases illustrating the outcomes of phacoemulsification corneal wound burns. SETTING A university referral center. METHODS This was a retrospective case series. RESULTS Three patients developed corneal wound burns during phacoemulsification of cataract. All eyes developed from +7.00 to +15.00 diopters of astigmatism in the axis of the incision. In 2 eyes, the astigmatism decreased over several months. The third had permanent high astigmatism and corneal edema requiring corneal transplantation. CONCLUSIONS Corneal wound burns occurring during phacoemulsification can have serious effects on the cornea, including corneal edema and severe astigmatism. In the milder cases, the astigmatism decreases spontaneously over several months.

Incidence and management of encapsulated cysts following Ahmed glaucoma valve insertion.

Purpose:Encapsulated cysts have been inconsistently reported to occur following Ahmed glaucoma valve implant insertion. We are unaware of previous reports reviewing their management. The objective of this study was to evaluate the occurrence and management of encapsulated cyst formation following Ahmed glaucoma valve implant insertion. Patients and Methods:Consecutive glaucoma patients who underwent Ahmed glaucoma valve implant insertion were studied retrospectively. Inclusion criteria included a minimum of 12 months of follow-up. Results:Fifty-seven patients met inclusion criteria for analysis. Following Ahmed glaucoma valve implant insertion, 13 patients (23%) developed an encapsulated cyst. After failing medical therapy and needling with 5-fluorouracil, 11 of these patients underwent surgical excision to control intraocular pressure. Eight of the eleven patients achieved adequate control of intraocular pressure with a mean follow-up time post excision of 330 ± 120 days. Conclusion:Encapsulated cysts associated with elevated intraocular pressure were commonly seen after Ahmed glaucoma valve implant insertion. Failing medical therapy, surgical excision of the cyst is effective in lowering intraocular pressure.

Assessing the need for posterior sclerotomy at the time of filtering surgery in patients with Sturge-Weber syndrome

PURPOSE Posterior sclerotomy has been recommended for prevention of intraoperative choroidal hemorrhages and choroidal effusions in patients with Sturge-Weber syndrome (SWS) or Klippel-Trenaunay-Weber (KTW) syndrome undergoing glaucoma filtering surgery. In this study, we evaluated this unproven clinical perception. DESIGN A retrospective, noncomparative, case series. PARTICIPANTS Seventeen consecutive patients with SWS or KTW syndrome who underwent glaucoma filtering surgery without prophylactic posterior sclerotomy or other prophylactic measures between January 1973 and March 1997 at a university-based practice. INTERVENTION Glaucoma filtering surgery without prophylactic posterior sclerotomy. MAIN OUTCOME MEASURES Incidence of intraoperative and postoperative choroidal effusion, choroidal detachment, or choroidal hemorrhage. RESULTS No intraoperative choroidal effusion, choroidal detachment, or choroidal hemorrhage occurred in this series. After surgery, 6 patients had a transient choroidal effusion. Surgical drainage was not required in any of them. No suprachoroidal hemorrhages occurred after surgery. CONCLUSIONS We did not encounter significant intraoperative suprachoroidal hemorrhage, choroidal effusions, or a combination requiring therapeutic intervention in our series. This finding leads us to question the necessity for prophylactic posterior sclerotomy to prevent the occurrence of these complications in patients with SWS and KTW syndrome undergoing glaucoma filtering surgery.