INTRAVITREAL RANIBIZUMAB AS AN ADJUNCTIVE TREATMENT FOR COATS DISEASE (6-YEAR FOLLOW-UP).

PURPOSE: To evaluate the effectiveness of intravitreal ranibizumab in combination with laser photocoagulation in the management of Coats disease. METHOD: Six intravitreal injections of 0.5 mg (0.05 mL) ranibizumab were performed, each 4 weeks apart. Correspondence to therapy was evaluated using visual acuity measurements and optical coherence tomography images. Six months after the initiation of treatment, laser photocoagulation was applied on the telangiectasias and on the surrounding ischemic areas, followed by a single intravitreal ranibizumab injection. Three months later, laser photocoagulation was repeated in purpose to prevent recurrence. RESULTS: In the sixth month, no improvement in visual acuity was recorded, as thick circinate hard exudates still remained in the submacular space. Nevertheless, retinal detachment had completely subsided, and fluorescein angiography showed a significant decrease of leakage from the telangiectatic vessels. At the 12-month follow-up visit, an impressive improvement was recorded, with total absorption of the submacular exudate and visual acuity being 20/30. At the 20-month follow-up visit, his visual acuity was 20/20 and the retina was flat with no signs of macular edema or exudates. At the 6-year follow-up visit, the patient was absolutely stable. DISCUSSION: Elevated vascular endothelial growth factor levels have been demonstrated in Coats disease. Anti-vascular endothelial growth factor agents assist to the decrease of vascular permeability of the capillary endothelial cells, thus increasing the efficiency of laser application.

Lack of association of the M129V polymorphism of the PRNP gene with pseudoexfoliation syndrome.

PURPOSE: In this study we aimed to evaluate the polymorphism at codon 129 (M129V) of the PRNP gene as a secondary risk factor for pseudoexfoliation syndrome (PEX). METHODS: Two hundred and seventy-five unrelated subjects, including 156 patients with PEX and 119 unrelated control subjects, were recruited from the University Hospital of Patras, Greece. All patients and controls were of Caucasian or European ancestry. The PRNP M129V (A/G) single-nucleotide polymorphism was genotyped by real-time polymerase chain reactions. Association of the polymorphism with PEX was assessed using the two-sided Pearson's chi-squared or Fisher's exact test. RESULT: No significant difference between patients and controls was observed in terms of frequencies of alleles and genotypes of the PRNP gene. CONCLUSION: Polymorphism at M129V of the PRNP gene was evaluated as a secondary risk factor for developing PEX. Our results suggest that this PRNP gene polymorphism is not associated with PEX.

Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome.

PURPOSE: The aim of this study was to determine the possible association of rs1048661 and rs3825942 single nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene of cataract patients from southwestern Greece with pseudoexfoliation (PEX) syndrome. PATIENTS AND METHODS: Ninety-three patients with PEX syndrome and 74 without PEX syndrome were recruited with the principal diagnosis being cataract. LOXL1 SNPs, rs1048661 and rs3825942, were genotyped by using polymerase chain reaction. RESULTS: The G allele of rs1048661 was found in 96.7% in the PEX group as compared to 80.5% of non-PEX alleles (P=19×10(-4); Odds ratio [OR] =5.37; 95% confidence interval [CI] =1.68-17.12). Similarly, the G allele of rs3825942 was found in 72.1% of the PEX group as compared to 41.8% of non-PEX alleles (P=4×10(-5); OR =3.78; 95% CI =1.98-7.23). The T and A allele frequencies of rs1048661 and rs3825942, respectively, were underrepresented in the PEX group patients as compared to non-PEX group. CONCLUSION: Our data confirm previously reported association between LOXL1 polymorphisms and PEX syndrome in a southwestern Greek population. A significant association was found for the G allele of rs1048661 and rs3825942 demonstrating that the GG haplotype is a high-risk factor for the development of PEX syndrome.

Cavernous hemangioma of the optic disk.

PURPOSE: To report a case of an unusually large cavernous hemangioma of the optic disk. METHOD: Case report with funduscopic, fluorescein angiography, and magnetic resonance imaging correlations. A 20-year-old woman with no ocular or systemic history was diagnosed with cavernous hemangioma of the optic disk in a routine eye examination. RESULTS: Fundus examination revealed an extremely large cavernous hemangioma of the optic disk, almost 4.5 disk diameter. Fluorescein angiography showed delayed filling of the lesion with intravascular plasma-erythrocyte separation and no leakage. No systemic involvement was found. CONCLUSION: This case represents an atypical presentation of cavernous hemangioma of the optic disk, among the largest reported in the literature. After a 5-year follow up period, no change has been documented.

Experience-dependent regulation of NMDA receptor subunit composition and phosphorylation in the retina and visual cortex.

Purpose. Experimental manipulation of experience during development can have profound effects on the functioning of the resulting circuits. N-methyl-d-aspartate glutamate receptor (NMDAR) activity is required for the establishment and refinement of neural circuits during development. In the present study, the authors addressed the issue of experience-dependent regulation of NMDARs by examining the effects of visual experience and deprivation on subunit composition and subunit phosphorylation of NMDAR in the retina and visual cortex. Methods. Total homogenates were prepared from retinas and visual cortices of 30-day-old (P30) Wistar rats, raised either in a normal 12-hour light/12-hour dark cycle (normal-reared [NR]) or in complete darkness from birth (dark-reared [DR]). Some of the DR animals were exposed to light for 6 hours at P30 (DR+6h). Immunoblotting was performed for the NMDAR subunits, NR2A and NR2B, and for the phosphorylated NR2B subunit protein at serine 1303 (pNR2B-Ser1303). Results. Dark rearing for 1 month decreased the NR2A/NR2B ratio and increased the level of phosphorylation of NR2B subunit at Ser1303 in the retina and visual cortex. Light exposure at P30 reversed the effects of visual deprivation on NMDAR composition and NR2B phosphorylation in both regions. Conclusions. These results indicated that NMDAR subunit composition and NR2B phosphorylation at Ser1303 is regulated bidirectionally by visual experience and deprivation in rat retina and visual cortex.