Gene therapy for retinal diseases: From genetics to treatment.

The gene therapy approach for retinal disorders has been considered largely over the last decade owing to the favorable outcomes of the US Food and Drug Administration-approved commercial gene therapy, Luxturna. Technological advances in recent years, such as next-generation sequencing, research in molecular pathogenesis of retinal disorders, and precise correlations with their clinical phenotypes, have contributed to the progress of gene therapies for various diseases worldwide, and more recently in India as well. Thus, considerable research is being conducted for the right choice of vectors, transgene engineering, and accessible and cost-effective large-scale vector production.

Inadvertent triple globe penetration during peribulbar anesthesia.

Inadvertent globe perforation following peribulbar anesthesia can lead to unpleasant experiences if not identified early and managed appropriately. We present the case of a 75-year-old female who came with decreased vision in the left eye (LE) following cataract surgery under peribulbar block. Her visual acuity in the right eye (RE) was 6/24 and LE was 6/75.

Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.

Purpose: Recent advances in sequencing technologies have enabled radical and rapid progress in the genetic diagnosis of inherited retinal disorders (IRDs). Although the list of gene variations continues to grow, it lacks the genetic etiology of ethnic groups like South Asians. Differences in racial backgrounds and consanguinity add to genetic heterogeneity and phenotypic overlaps.

Unilateral Endogenous Bacterial Endophthalmitis Post-Coronavirus Disease-19 in an Healthy Asian Indian Male.

Coronavirus disease 2019 (COVID-19) is associated with ocular involvement either during or after the infection. These include conjunctivitis, conjunctival hyperemia, chemosis, epiphora, reactivation of anterior uveitis, or presenting as anterior sclero-uveitis, cotton wool spots, retinal hemorrhages, retinal artery/vein occlusion, ophthalmic artery occlusion, panuveitis, papillophlebitis, central serous retinopathy, presumed fungal endophthalmitis, and multifocal chorioretinitis. A 47-year-old Asian Indian male was diagnosed with COVID-19 and had no other systemic history of note at the time of admission.

Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapies.

Successful sequencing of the human genome and evolving functional knowledge of gene products has taken genomic medicine to the forefront, soon combining broadly with traditional diagnostics, therapeutics, and prognostics in patients. Recent years have witnessed an extraordinary leap in our understanding of ocular diseases and their respective genetic underpinnings. As we are entering the age of genomic medicine, rapid advances in genome sequencing, gene delivery, genome surgery, and computational genomics enable an ever-increasing capacity to provide a precise and robust diagnosis of diseases and the development of targeted treatment strategies.

Prevalence of primary angle-closure disease in retinitis pigmentosa.

Purpose: To determine the prevalence of primary angle-closure disease (PACD) in patients with retinitis pigmentosa (RP).

Methods: This was a retrospective review of the electronic medical records of all RP patients over the age of 10 years attending the Genetics Eye Clinic of a tertiary-care hospital during a 7-year period. Information regarding age, gender, vision, refraction, lens, intraocular pressure (IOP), type of RP, and inheritance pattern using pedigree charts for all patients were obtained.

Serial ERG monitoring of response to therapy in vitamin A deficiency related night blindness.

Two male patients with known systemic disorders who presented with complaints of nyctalopia underwent a complete ophthalmic examination including electrophysiological evaluation and serum vitamin A (retinol) levels. A significant vitamin A deficiency was detected, supplementation started and repeat electroretinogram (ERG) testing was carried out to monitor the timeline of recovery. Restoration of rod and generalised cone function was rapid within the first week of receiving treatment and near normal recovery was seen after 1 month of supplementation.

Merits of multicolor imaging for tractional retinal detachment.

Purpose: To compare multicolor imaging (MCI) with Optos color fundus photography (OCFP) for the evaluation of morphology and extent of preretinal membranes in diabetic tractional retinal detachments (TRD).

Methods: In this retrospective study, 30 eyes with diabetic TRDs were imaged using the MCI feature of the Heidelberg Spectralis Spectral-domain optical coherence tomography (SD-OCT) and color photo using the Optos Daytona ultra-widefield fundus camera. Two investigators independently graded and determined the agreeability between the two modalities with respect to the extent of the TRD and preretinal membranes on the SD-OCT B-scan images.

Morphological features of focal choroidal excavation and its association with macular pathology in Asian Indian eyes.

Purpose: To study the characteristics of focal choroidal excavation (FCE) in Indian eyes based on spectral-domain optical coherence tomography (SD-OCT) findings and their association with macular pathologies.

Methods: Retrospective study of 26 patients diagnosed with FCE. All patients' clinical and imaging data were reviewed.

Study of retinal structural-functional relationship in choroideremia using fundus autofluorescence and optical coherence tomography.

Objective: The objective of this study was to assess the structural-functional relationship in choroideremia (CHM) patients using optical coherence tomography (OCT) and autofluorescence (AF) images.

Methods: In this study, 53 eyes of 28 CHM patients were included. Demographic, ocular and clinical fundus features were recorded.

Macular tractional retinal detachment: A rare complication of blunt trauma.

Traumatic rhegmatogenous retinal detachment after blunt ocular trauma is a known entity. A tractional macular detachment occurring posttrauma without a retinal break is a unique presentation. A 25-year-old gentleman after blunt ocular trauma with a ball presented a week later with a vision of 20/800, large subretinal bleed and resolving vitreous hemorrhage in the right eye.

Solar retinopathy-correlation between adaptive optics and spectral domain optical coherence tomography with visual acuity.

Background: To study the characteristics of photoreceptors on adaptive optics (AO) in patients of solar retinopathy and its correlation to changes in spectral domain optical coherence tomography (SDOCT) and visual acuity.

Methods And Material: This is a cross-sectional observational study of six eyes of five patients with clinically diagnosed solar retinopathy. Five age-matched controls were included for comparison.

Multimodal imaging of an idiopathic florid vascularised epiretinal membrane: Course, treatment, and outcome.

Idiopathic vascular epiretinal membrane is an extremely rare entity and the pathogenesis and clinical course is not clearly understood. A 53-year-old hypertensive female patient presented with complaints of altered vision in the right eye. On examination, her vision was 20/30 and fundoscopy showed a vascularized epiretinal membrane (ERM), which was confirmed on spectral-domain optical coherence tomography.

Foveal cyst: Unknown etiology and unexplained response to treatment.

Background: Foveal cysts have been associated with vitreous traction due to a taut posterior hyaloid. These eyes may progress to become a full-thickness macular hole, remain stable, or resolve after a posterior vitreous detachment. A foveal cyst in an eye with a complete posterior vitreous detachment and no other obvious pathology is unusual.

Quantifying microstructural changes in retinitis pigmentosa using spectral domain - optical coherence tomography.

Background: Most patients of established retinitis pigmentosa (RP) have subnormal peripheral vision and heavily rely on central vision for their daily activities. Central visual acuity is dependent on photoreceptor survival at the macula. Identification of structural changes that precede visual loss is essential.

Multimodal imaging in retinoschisis.

Retinoschisis is characterized by abnormal splitting of neurosensory retina. We demonstrate imaging of retinoschisis with multiple modalities.

Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.

Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive bestrophinopathy (ARB) and autosomal dominant Best vitelliform macular dystrophy (BVMD). We applied whole-exome sequencing on four unrelated Indian families comprising eight affected and twelve unaffected individuals. We identified five mutations in BEST1, including p.

Immortal Ozurdex: A 10-month follow-up of an intralenticular implant.

A 78-year-old male who had received a dexamethasone implant (Ozurdex, Allergan, Inc., Irvine, CA, USA) 15 days back for recalcitrant diabetic macular edema in the left eye came to us for a second opinion. On examination, his corrected distance visual acuity was 20/20 in the right eye and 20/40 in the left eye.