The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails), nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

Background: We compared vision and quality of life (VQL) of children aged 5-15 years and operated for unilateral and bilateral cataract between 2008 and 2010 in western India. Materials and Methods: In this cohort study, ophthalmologists assessed vision, anterior and posterior segment of eyes with cataract. Children completed a functional vision questionnaire (LVP-FVQ). Follow up at 6 months after surgery included the best corrected visual acuity (BCVA), FVQ and eye assessment. The improvement of BCVA and quality of life were compared in group of unilateral and bilateral cataract. Result: A total of 20 (70%) bilateral and 7 (39%) unilateral cataract were operated within 1 month of detection. All 48 eyes with bilateral cataract were congenital and 12 (67%) unilateral cataract were traumatic. Among bilateral group, 27 eyes [56.2% (95% confidence interval (CI) 44.4-72.2)] and in unilateral group 11 eyes [61.1% (95% CI 38.6-83.6)] had vision ≥ 20/60 at 6 months follow up. The visual gain was significantly higher in children who were operated between 1 month and 1 year of detection (adjusted Odds ratio (OR) = 15.6 P = 0.03). Positive impact on VQL in bilateral group was noted in 50%, 27%, and 13% children for subscale of distant vision, near vision, and field of vision, respectively. There was positive impact in these subscales among children with unilateral cataract. Thirty percent eyes with bilateral cataract and 22% of eyes with unilateral cataract improved their vision. Surgery within 1 month of cataract was significant predictor of improved vision (OR = 16.6 P = 0.02). Conclusion: Vision and VQL improved in children with unilateral and bilateral cataract. However, it was better 6 months following surgery in children with bilateral cataract than in children with unilateral cataract.

Objective: To highlight the role of Sutureless Large Incision Cataract Extraction (SLICE) in the United Kingdom for the treatment of cataracts at high risk for intra- or postoperative complications. Setting: Two University Hospitals in the United Kingdom Materials and Methods: Retrospective case note review of planned SLICE performed over a 12-month period. Results: SLICE was performed on 11 eyes of 11 patients (mean age, 79 years) having preoperative vision of hand motions (10 eyes) with very dense or mobile cataracts and high risk for phacoemulsification. Mean follow up was 12 weeks, with no operative or postoperative complications. Nine patients (without ocular or systemic comorbidity) achieved best corrected vision of 0.3 LogMAR (20/40) or better. Conclusions: SLICE is safe and effective for dense or mobile cataracts and can play a role in patients where conventional phacoemulsification carries higher risks of complications.

Background: To evaluate the safety of ranibizumab as a surgical adjunct during cataract surgery in patients with proliferative diabetic retinopathy (PDR) with rubeosis, and to evaluate the efficacy and adverse effects of ranibizumab in treating PDR with rubeosis. Materials and Methods: Three intravitreal injections of 0.5 mg ranibizumab were administered on day-1, months-1 and -2 with cataract surgery 6-16 days after first injection. Retreatments with ranibizumab injections and pan-retinal photocoagulation (PRP) were given if recurrence or persistence of PDR was noted between months-3 and -11. Safety observation visits occurred at months-12, -18 and -24. Primary end points were incidence and severity of adverse events (AEs) that were related to both cataract surgery and treatment of PDR with rubeosis through month -12. Results: Of six patients screened, four (mean age 61.3 years) were enrolled. No AEs were noted with either cataract surgery or treatment of PDR. Neovascularization of iris (NVI) promptly regressed by 4 days after first ranibizumab injection, prior to cataract surgery in three of four patients (one had significantly regressed NVI by post-injection day-3 visit); NVI was not noted in any patient at 2 weeks after first ranibizumab injection. Recurrence of rubeosis or NVA after 3 monthly injections was not observed in any. At month-12, PDR was not present when assessed clinically and by fluorescein angiogram (FA). Only one patient developed neovascularization of disc and neovascularization elsewhere and required retreatments at months-5 and -9. Conclusions: Multiple intravitreal injections of ranibizumab may be a safe, effective treatment adjunct for PDR and diabetes-related rubeosis.

Background: In spite of laser being the gold standard treatment for Diabetic Macular edema (DME), some patients do not respond to laser. Various treatment modalities are being tried in the management of refractory diffuse DME (DDME). Purpose: To compare the efficacy of intravitreal bevacizumab (IVB), intravitreal triamcinolone acetonide (IVTA), and macular grid augmentation in the management of refractory DDME. Settings and Design: Prospective randomized study in a tertiary eye care center. Materials and Methods: Sixty patients with refractory DDME were randomly assigned to three groups: Group 1 received IVB (1.25 mg/0.05 ml), Group 2 received IVTA (4 mg/0.1ml), and Group 3 underwent laser augmentation. Primary outcome measures were best corrected visual acuity (BCVA) and central macular thickness (CMT) at the end of 6 months. Statistics: Analysis was performed using SPSS 14.0 Results: Group 1 and 2 showed significant improvement in mean BCVA from 20/160 at baseline to 20/80 and from 20/125 to 20/63, respectively, at 6 months (P < 0.05). These groups also showed a significant reduction in the mean CMT from 457 ± 151 μ at baseline to 316 ± 136 μ and from 394 ± 61 μ to 261 ± 85 μ, respectively, at 6 months (P < 0.05). Group 3 showed only small improvement in mean BCVA from 20/100 to 20/80 (P = 1.0) while mean CMT increased from 358 ± 89 μ at baseline to 395 ± 127 μ at 6 months (P = 0.191). Eight (40%) eyes in Group 2 had intraocular pressure (IOP) rise and 10 (50%) eyes developed cataract. Conclusions: Both IVB and IVTA may be effective in the treatment of refractory DDME compared with macular grid augmentation. IVTA may be associated with side effects such as IOP rise and cataract formation.

Background: Hypertrophic scarring may be a cause of failure after transcanalicular laser dacryocystorhinostomy (DCR) surgery. This hypertrophic scarring results from tissue charring and excessive coagulation, which may be caused by the high laser energy. We have evaluated the use of low energy settings to prevent hypertrophic scarring, for a successful outcome. Aims: To perform and evaluate transcanalicular laser DCR using low energy 810 nm diode laser. Design: Interventional, non-comparative, case series. Materials and Methods: Patients with nasolacrimal duct obstruction and chronic dacryocystitis, who needed DCR, and were fit for surgery under local anesthesia, were recruited to undergo transcanalicular laser DCR using a 810 nm diode laser. The outcome was measured by the patency of the lacrimal passage, as indicated by the relief in the symptoms and the patency on syringing at the last follow-up. The surgical time and surgical complications were noted. Statistical Analysis Used: Descriptive analysis. Results: The study included 94 patients. The average age was 30.1 years (range 15 - 69 years). Seventy (74.4%) patients were female. Eight patients had failed external DCR. Per-operative patency of the passage was obtained in all the patients. Average surgical time was seven minutes (5 - 18 minutes). At the end of the study period of one year, a successful outcome was seen in 85 patients (90.5%). There were eight patients of previous failed DCR surgeries, and six of them achieved a cure at the end of follow-up. Conclusions: Transcanalicular Laser DCR can be safely performed using a low power 810 nm diode laser. The surgery is elegant, minimally invasive, allows fast rehabilitation, and has an excellent success rate.

Objectives: To evaluate the outcome and safety of the iris-fixated Artisan phakic intraocular lens (PIOL) for the correction of moderate and high myopia. Materials and Methods: A retrospective non-controlled clinical study of the data of patients who underwent Artisan PIOLs between March 2006 and July 2008 was evaluated. Pre-operative examination included age, gender, refraction, uncorrected (UCVA) and best spectacle corrected (BSCVA) visual acuity, predictability and safety were analyzed. Post-operative time course ranged from 12 to 36 months. Results: An Artisan myopia lens was implanted in 62 eyes of 39 patients. The mean pre-operative spherical equivalent (SE) was −13.17 ± 5.62 D. The pre-operative myopia ranged from −4.5 to −24 D. Mean patient age was 25.44 ± 5.22 years. At last follow-up visit, residual SE was within ±1.00 D in 36 eyes (58.1%) and ±2.00 D in 56 eyes (90.3%). In the last visit UCVA was equal to or better than pre-operative BSCVA in 57 (91.9%) of the eyes. One eye (1.6%) lost one Snellen line, three eyes (4.8%) lost two or more Snellen lines and one eye lost vision (1.6%). Post-operative complications included anterior chamber reaction in one eye, rise in intraocular pressure in two eyes and retinal detachment in one eye. Conclusion: When laser keratorefractive surgery is not an option, implantation of Artisan PIOL to correct moderate to high myopia results in a stable and good refractive result with few complications that must be kept in mind.

A 45 year old female presented with a pigmented lesion in the right periocular region. The mass was present on the lateral 1/3 of the lower eyelid and involving the lateral 1/8 of the upper eyelid. Full thickness excision with wide tumor-free margins was done and the residual defect was repaired. Histopathological examination confirmed the diagnosis of nodulo-ulcerative basal cell carcinoma. In this report, we describe a novel technique for reconstruction of large lateral canthus defect by using three local flaps. With triple-flaps technique extensive defects involving the lateral canthus can be repaired without difficulty with a good functional and aesthetic outcome.

We report the effects of intravitreal ranibizumab as salvage therapy in an extremely low-birth-weight (ELBW) infant with rush type retinopathy of prematurity (ROP). This case was a girl of 23 weeks gestational age weighing 480 g at birth. At a postconceptual age of 33 weeks, she presented with zone 1, stage 3 ROP with plus disease. Despite intravitreal bevazucimab and laser photocoagulation, extraretinal fibrovascular proliferation persisted. Intravitreal 0.25 mg (0.025 ml) ranibizumab was injected OU. After treatment, extraretinal fibrovascular proliferation disappeared. Fundus examination showed flat retinas and normal vasculature in both eyes. She has been followed up for 2 years. Intravitreal ranibizumab injection seems effective and well tolerated as salvage therapy in an ELBW infant with rush type ROP. No short-term ocular or systemic side effects were identified. More cases and longer follow-up are mandatory.

Uveal melanomas are a common clinical entity that initially present in a variety of ways. Cystoid macular edema is caused by many conditions, but it is rarely associated with uveal melanoma. We report two cases of patients that presented with visually significant cystoid macular edema that was later found to be secondary to choroidal melanoma. We describe the patients' course and treatment and provide a mechanism for the potential cause of edema in patients with uveal melanoma.

A 45-year-old man presented with diminution of vision in the left eye following a firecracker injury. Best corrected visual acuity (BCVA) was 20/20 in the right eye and 20/125 in the left eye. Fundus examination revealed vitreous hemorrhage, a macular hole, and submacular hemorrhage in the left eye. The patient underwent vitrectomy, tissue plasminogen activator (tPA)-assisted evacuation of the submacular hemorrhage, internal limiting membrane (ILM) peeling, and 14% C3F8 gas insufflation. After two months, the BCVA remained 20/125 and optical coherence tomography (OCT) showed type 2 macular hole closure. On a follow-up, seven months after surgery, BCVA improved to 20/80, N6, with type 1 closure of the macular hole. The clinical findings were confirmed on OCT. Delayed and spontaneous conversion of the traumatic macular hole could occur several months after the primary surgery and may be associated with improved visual outcome. Larger studies are required to better understand the factors implicated in such a phenomenon.

Dacryocystorhinostomy or DCR is one of the most common oculoplastics surgery performed. It is a bypass procedure that creates an anastomosis between the lacrimal sac and the nasal mucosa via a bony ostium. It may be performed through an external skin incision or intranasally with or without endoscopic visualization. This article will discuss the indications, goals, and simple techniques for a successful outcome of an external DCR.