Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.

BACKGROUND/AIMS: To assess the involvement of WDR36 sequence variance in primary open-angle glaucoma (POAG) in Italian patients. METHODS: A cohort of 34 Italian families affected by POAG was analysed by denaturing high-performance liquid chromatography for mutation in the WDR36 gene. Among the 34 families enrolled, 25 were affected by high-tension glaucoma (HTG), four by juvenile open-angle glaucoma and one by normal tension glaucoma. In addition, four families presented both juvenile open-angle glaucoma and HTG-POAG patients within the same pedigree. RESULTS: Four previously identified intronic polymorphisms (IVS5+30C→T; IVS12+90 G→T; IVS13+89G→A; IVS16-30A→G) and a novel one (IVS21-75G→A) have been identified. In addition, one proband was found to carry the p.D658G mutation reported as the more recurrent disease-causing allele. CONCLUSIONS: The findings suggest that WDR36 sequence variance is only a rare cause of glaucoma in Italian families. Clearly, investigation of additional families with extensive studies is needed to clarify the role of WDR36 in the pathophysiology of glaucoma.

Longterm follow-up of diode laser transscleral cyclophotocoagulation in the treatment of refractory glaucoma.

PURPOSE: This prospective study was conducted to evaluate the efficacy and safety of transscleral diode laser cyclophotocoagulation (TDLCP) in advanced refractory glaucoma. METHODS: A total of 124 eyes in 121 patients with advanced glaucoma refractory to medical treatment were treated consecutively with TDLCP. Success was defined as final intraocular pressure (IOP) of 5-21 mmHg in eyes with visual acuity (VA) of more than hand movements (HM) and relief of pain in eyes with VA of HM or less, including blind eyes. RESULTS: Mean patient age was 65.6 +/- 17.1 years (range 14-91 years). Mean follow-up was 17 +/- 14.6 months (range 3-42 months). Mean pretreatment IOP was 29.9 +/- 8.4 mmHg (range 17-58 mmHg) and IOP at last follow-up was 20.8 +/- 8 mmHg (range 6-45 mmHg) (p < 0.001). The number of laser applications (mean 9.2 +/- 2.8, range 4-15) and maximal laser power (mean 2.01 +/- 0.22 mW, range 1.3-3.0 mW) were not associated with lower postoperative IOP. Intraocular pressure of < or = 21 mmHg was recorded in 63.0% of eyes at the last follow-up visit. Overall, 28 (21.7%) eyes required at least one retreatment. No phthisis bulbi or persistent hypotonia developed. CONCLUSIONS: TDLCP is an effective and safe method for the treatment of advanced refractory glaucoma, although repeated treatments are often necessary.

An in vivo confocal microscopy analysis of effects of topical antiglaucoma therapy with preservative on corneal innervation and morphology.

PURPOSE: To evaluate the long-term effects of preservative-free and preservative-containing antiglaucoma eye drops on the tear secretion and ocular surface. DESIGN: Comparative retrospective study. METHODS: A total of 84 patients with bilateral primary open-angle glaucoma or ocular hypertension divided into 5 groups according to type of topical hypotensive therapy and 20 healthy age-matched volunteers were studied. Clinical tests (corneal sensitivity, Schirmer I test, and lachrymal film break-up time), and in vivo confocal microscopy were performed in all patients. RESULTS: A significant reduction of the scores was found between groups on topical hypotensive therapy and the control group in all clinical parameters studied (P < .05). In particular, the clinical scores were significantly lower in the preservative medication groups than in the preservative-free group (P < .05). The density of superficial epithelial cells was reduced in all glaucomatous patients, except for the preservative-free group (P > .05), with respect to control subjects (P < .001). On the contrary, the density of basal epithelial cells of glaucomatous preservative therapy groups was higher than control and preservative-free groups (P < .05). Stromal keratocyte activation and the number of beads were higher in all glaucoma preservative groups (P < .05). The number of sub-basal nerves was lower in all glaucoma groups than in the control group (P < .05) and tortuosity was significantly higher in glaucoma than control groups (P < .05). Reflectivity of fibers did not show any significant difference between the 6 groups (P < .05). CONCLUSIONS: Glaucomatous patients with chronic treatment show ocular surface alterations. The development of nontoxic antiglaucoma treatment may reduce damage to the ocular surface and improve the compliance and the adherence in the medical therapy.

Clinical and ultrasound biomicroscopic features in iris melanocytoma.

The clinical and ultrasound biomicroscopic features of two cases of iris melanocytoma are evaluated. On ultrasound biomicroscopy examination, iris melanocytoma appears as a highly reflective nodular mass with a smooth or irregular surface and sharp and well-defined edges. Ultrasound biomicroscopy also allows clear visualization and measurement of the tumors. These findings were compared with clinical and histopathologic findings.

Amniotic membrane graft: histopathological findings in five cases.

Amniotic membrane transplantation (AMT) is an effective treatment for ocular surface reconstruction; however, the mechanisms through which amniotic membrane (AM) exerts its effects as well as its fate after transplantation have not been entirely elucidated and have been investigated only in part. We evaluate the integration of AM in the host cornea in five patients who underwent AMT as the result of Bowen's disease, band keratopathy, radio- or cryotherapy-induced keratopathy, chemical burn or post-herpetic deep corneal ulcer with descemetocele. Due to persistent opacification in four cases and a progressing tumor in one case, penetrating keratoplasty (PK) and enucleation were performed as early as 2 months and up to 20 months after AMT. The corneas were analyzed histopathologically. To evaluate AM remnants, corneas were stained with periodic acid Schiff's reaction (PAS), Alcian blue, and Gomory and Masson trichrome; immunostaining including collagens III and IV antibodies was also performed. None of the corneas showed remnants of AM. In all cases, we observed discontinuity of Bowman's membrane. In three cases, the corneal epithelium was completely restored, ranging from three to six cell layers. In the other two cases, we detected an intense inflammatory reaction with rich neovascularization; the epithelial surface of the central cornea was completely restored, while at the periphery of the cornea goblet mucus-producing cells were present. Although clinically useful in all cases, restoration of a stable corneal epithelium through AMT is limited by the extent and severity of limbal stem cell deficiency (LSCD). The lack of histologically documented AM remnants in our cases seems to explain the efficacy of AMT more through its biological properties than through its mechanical properties.