Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population.

PURPOSE: To investigate the roles of CYP1B1 and MYOC mutations and characterize the phenotype of primary congenital glaucoma in Israeli patients from 3 different ethnic backgrounds. DESIGN: Interventional case series. METHODS: This institutional study included 34 Israeli primary congenital glaucoma patients (26 families) comprising 9 Jews (9 families), 17 non-Bedouin Muslim Arabs (10 families), and 8 Druze (7 families). The patients and their relatives (n = 99) were screened for CYP1B1 and MYOC mutations. RESULTS: Mutations in the CYP1B1 gene were detected in 12 of 26 families (46%) with primary congenital glaucoma (5 Muslim Arab, 5 Druze, and 2 Jewish). The Jewish families had compound heterozygous mutations and digenic mutations (ie, an Ashkenazi family had mutations in the CYP1B1 gene [Arg368His, R48G, A119S, and L432V haplotypes] and an Ashkenazi-Sephardic family had a mutation on the CYP1B1 gene [1908delA, Sephardic] with a second missense mutation on the MYOC gene [R76K, Ashkenazi]). The Muslim Arabs and Druze tended to have a more severe phenotype than that of the Jews. CONCLUSION: The phenotype and spectrum of the CYP1B1 and MYOC mutation roles in the clinical characteristics of primary congenital glaucoma varied according to ethnicity. The rarity of mutations in the CYP1B1 gene among Ashkenazi primary congenital glaucoma patients indicates that a different locus may be involved in the phenotype.

Lowering of IOP by echothiophate iodide in pseudophakic eyes with glaucoma.

PURPOSE: We retrospectively investigated the intraocular pressure (IOP)-lowering effects of echothiophate iodide (EI) as adjunctive treatment for pseudophakic glaucoma patients who were receiving maximal medical therapy (MMT), including the newer class of medications, i.e., prostaglandin analogs, alpha-2 agonists, and topical carbonic anhydrase inhibitors. METHODS: The medical records of all pseudophakic glaucoma patients (24 eyes) under MMT who received supplementary EI 0.125% between January 2002 and December 2003 were reviewed. IOP data and number of medications before, during and after EI treatment were collected. RESULTS: Adding EI to MMT further reduced IOP in 23 of 24 eyes. Three eyes (12.5%) showed some lowering of IOP, but not enough to be considered controlled (IOP above the target pressure). The mean baseline IOP of 30.4 +/- 8.2 mmHg (median 29 mmHg) dropped at final follow-up (11.2 +/- 3.9 months) to 16.6 +/- 4.2 mmHg (median 17 mmHg, p < 0.0001) in all eyes that had showed effective pressure reduction upon the addition of EI. Their IOP rose to 27.7 +/- 8.0 mmHg (median 28 mmHg, p < 0.001) when EI was discontinued because of commercial non-availability. IOP reduction was > or =20% in 18 (75%) eyes and > or =30% (a mean decrease of 16.7 +/- 8.3mmHg) in 15 eyes (63%). Four eyes (16.6%) required a trabeculectomy despite EI supplement. Five eyes were re-challenged with EI when a small amount was released for sale: their IOP of 26.6 +/- 7.1 mmHg after the first EI discontinuation had dropped to 16.4 +/- 4.3 mmHg (p < 0.0001) and rose to 29.6 +/- 7.1 mmHg when EI was again discontinued. The recorded EI-associated side effects were increased miosis in all eyes and headache (8/24 patients), neither of which were reasons for discontinuation of the drug in any patient. CONCLUSION: EI substantially decreased the IOPs in pseudophakic glaucoma eyes receiving maximal medical therapy, including the newer class of medications. This drug may be the last resort for post-cataract advanced glaucoma patients and may obviate the need for filtering surgery among the very elderly.

[Selective laser trabeculoplasty treatment for medication-refractory open angle glaucoma].

BACKGROUND: Selective laser trabeculoplasty (SLT) is a new method to reduce intraocular pressure in eyes with primary open angle glaucoma. The laser parameters are set to selectively target pigmented trabecular meshwork (TM) cells without damage to the adjacent non-pigmented tissue. PURPOSE: A clinical retrospective study was conducted to evaluate the 12 months results of SLT in the treatment of medically uncontrolled open angle glaucoma. PATIENTS AND METHODS: During the period March to September 2004, the authors performed a SLT in 50 patients (50 eyes) with open angle glaucoma uncontrolled on maximally tolerated medical therapy. Treatment was carried out with a frequency-doubled, Q-switched Nd:YAG laser 532 nm.(Selectra 7000 Laser Coherent, Inc., Palo Alto,CA). Approximately 85 to 90 non-overlapping laser spots were placed over 180 degrees of the trabecular meshwork at energy levels ranging from 0.6 to 1.4 mJ per pulse. In patients who required additional SLT therapy, the untreated 180 degrees was treated. During the follow-up period, patients were treated with antiglaucoma medications as required. The success rates were defined as decreases in intraocular pressure (IOP) of 3 mmHg or more with no additional medications, laser, or glaucoma surgery. RESULTS: The mean IOP reduction from baseline 6 months after treatment was 21% and 20% after 12 months. The success rates were 66% after 6 months and 55% after 12 months. Four eyes (8%) did not respond to SLT. One hour after SLT, an increase in IOP of more than 5 mm Hg was detected in 5 eyes (10%). Seven patients (14%) required additional SLT. CONCLUSIONS: SLT is efficient in lowering IOP in medication-refractory open angle glaucoma. It should be considered in such patients when surgery is contraindicated or refused.