Glaucoma is the second most common cause of blindness in the world as determined by the World Health Organization (WHO). Glaucoma diagnosis, identification of people at risk, initiation of treatment and timing of surgical intervention remains a problem. Despite new and improving diagnostic and therapeutic options for glaucoma, blindness from glaucoma remains a major public health problem. The role of heredity in ocular disease is attracting greater attention as knowledge and recent advances of Human Genome Project and the HapMap Project have made genetic analysis of many human disorders possible. Glaucoma offers a variety of potential targets for gene therapy. All risk factors for glaucoma and their underlying causes are potentially susceptible to modulation by gene transfer. The discovery of genes responsible for glaucoma has led to the development of new methods of Deoxyribonucleic acid (DNA)-based diagnosis and treatment. As genetic defects responsible for glaucoma are identified and the biochemical mechanisms underlying the disease are recognized, new methods of therapy can be developed. It is of utmost importance for ophthalmologists and glaucoma specialists to be familiar with and understand the basic molecular mechanisms, genes responsible for glaucoma and the ways of genetic treatment. Method of Literature Search The literature was searched on the Medline database using the Pubmed interface.

Aim : To identify the presence of a known or novel mutation/SNP in Exon-1 (ex-1) of alpha crystallin (CRYAA) gene in different types of age-related cataract (ARC) patients. Materials and Methods : Single strand Conformation Polymorphism (SSCP) analysis was carried for the detection of single nucleotide polymorphism (SNP) in ex-1 of alpha crystallin (CRYAA) gene which was confirmed by sequencing. Results : The SSCP analysis of ex-1 of CRYAA gene revealed mobility shift in patients and controls, which was due to G>A transition at 6 ^th position in exon-1 of CRYAA gene. All the three genotypes, GG, AA and GA, were detected in patients and controls indicating that G>A substitution is polymorphic. The analysis showed significant risk for heterozygotes (GA) as compared to pooled frequencies of homozygotes (GG+AA), which was 1.81 times for all the types of cataracts in general and 2.5 times for Nuclear Cataract and twice for Cortical Cataract. Conclusion : The GA heterozygotes were at higher risk for developing NC and CC types of cataracts, where as the GG homozygotes for MT and AA homozygotes for PSC types were at risk. To our knowledge, an association of G>A transition found in ex-1 of CRYAA gene with ARC, with differential risk of genotypes for individual type of cataracts has not been reported previously.

Purpose : To identify under-five-year-old children with vision or ocular defect in two provinces (Wilayats) of central Oman in 2006. Study Design : Public health intervention study. Materials and Methods : Ocular examination in Manah Wilayat was conducted by nursing staff of the primary health center (PHC) and in Mudhaiby Wilayat was conducted by a trainee Omani optometrist. Abnormal sized eyeball, strabismus, nystagmus and white pupil were recorded. Visual acuity was tested by LOGMAR chart with Lea's symbols in children >2 years of age and preferential viewing was assessed by Lea's grating paddle or 'Hiding Heidi' picture in children ≤2 years age. Data was analyzed using Statistical Package for Social Studies (SPSS 12). Result : Among 1,520 examined children, three children had absent eyeball bilaterally and three had unilaterally absent eyeball. Strabismus and nystagmus were detected in 44 (2.9%) and 18 (1.2%) children respectively. 'Hiding Heidi' test was normal in 530/537 (87%) of children. Distant vision reading was ≥0.32 in 386/448 (86.2%) eyes. Preferential looking test suggested that half of the children had defective vision (>2cpcm). Screening at '1-2 year' and '3-4 years' age group could significantly predict eye problems ( P≤0.001). Conclusion : Eye and vision screening of under-five kids helped in detection of eye problems in early stages. Instead of universal screening, high risk population or children of '3 to 4' years for vision and '1 to 2' years for ocular abnormalities is proposed The existing health services could not detect some children with eye problems and they were identified during such screening.

Background : External dacryocystorhinostomy (DCR) remains a reliable surgical technique for the treatment of obstruction of lacrimal drainage system beyond the common canalicular opening. Aim : To describe a simple modified double flap external DCR technique. Materials and Methods : Ninety six consecutive cases of chronic dacryocystitis with or without mucocele were selected irrespective of age and sex. In a modification to routine external DCR, a modified technique was followed, where both anterior and posterior flaps of lacrimal sac and nasal mucosa are created and sutured. Two double armed sutures were used to join the edges of anterior flaps, and elevate them anteriorly to avoid adhesion or apposition with underlying sutured posterior flaps, and to approximate the deep plane of the wound. Results: At the end of average follow-up period of 13 months, we observed 98.9% objective and 96.8% subjective success rates. The average operation time was 45 minutes. No significant intraoperative or postoperative complications were noticed. Conclusion : We believe that combined posterior flap and anterior suspended flap DCR technique is simple to perform and has the advantage of both double flap DCR and anterior suspension of anterior flaps. The results of the study showed the efficacy of this simple modification.

The authors present an unusual case of a polar mass in the frontal lobe of the brain, causing acute monocular visual loss in a 50-year-old woman with history of breast carcinoma treated with surgery, radiation and chemotherapy. Neuroimaging demonstrated herniation of the gyrus rectus into the suprasellar cistern resulting in compression of the anterior visual pathway.

Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autosomal recessive disorder with mutations of the EVC1 and EVC2 genes located on chromosome 4p16. Patients with this syndrome usually have a high mortality in early life due to cardiorespiratory problems. We present the case of a six- month-old female infant with Ellis-van Creveld syndrome - essential infantile esotropia, which has been infrequently documented in the literature.

Topiramate is a sulfamate-substituted monosaccharide used in the treatment of seizures, and prophylaxis of migraine. A number of ocular side-effects have been described with use of topiramate, like bilateral angle closure, acute myopia and macular striae. Ultrasound biomicroscopy (UBM) clinches the diagnosis after ruling out other causes of shallow anterior chamber. Previous studies have not demonstrated internal limiting membrane folds presenting as macular striae. We report a case of topiramate-induced acute myopia with angle closure and macular striae in a young adult. This is the first report wherein striae formation after low doses of topiramate and their resolution have been documented by Optical Coherence Tomography (OCT).

Syphilis is a rare cause of panuveitis. We present the case of a 33-year-old man who presented with diminution of vision of three months duration in his left eye (OS), without any other systemic illness. Ophthalmic examination showed features of pauveitis with dense vitreous exudates, disc pallor and sheathing of vessels on fundoscopy. A diagnosis of probable endogenous endophthalmitis was made and vitreous tap performed. Vitreous biopsy showed no growth of fungus or bacteria. Rapid plasma reagin (RPR) and Treponema pallidum hemagglutination (TPHA) test were positive. Enzyme-Linked Immuno Sorbent Assay (ELISA) and Western Blot test were then performed, which revealed concurrent HIV infection. The patient improved dramatically with intravenous penicillin therapy. HIV positive patients may present with panuveitis secondary to ocular syphilis, as the only presenting feature in HIV positive patient in absence of any other systemic features.