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. Early cataractous changes were present in both eyes. The intraocular pressure was within normal limits. The Ozurdex implant was seen lodged in the posterior cortex of the crystalline lens in the left eye, confirmed on anterior segment optical coherence tomography (OCT) and ultrasound biomicroscopy. Fundus examination showed moderate nonproliferative diabetic retinopathy in both eyes with macular edema and epiretinal membrane in the left eye, confirmed on OCT. The patient was noncompliant and returned after 10 months. Interestingly, the implant was still present in the same location with the same vision and anterior segment findings as before. The OCT showed a reduction in macular edema. The patient was advised regular follow-up and cataract surgery at a later date.

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. The aim of this study was to correlate the Spectral Domain-Optical Coherence Tomography (SD-OCT) characteristics with visual acuity in patients with typical RP. Methods This was a retrospective, observational case series of 224 eyes of 113 RP patients conducted a tertiary eye care center. SD-OCT imaging was done for all eyes. Central retinal thickness (CRT), photoreceptor outer segment length (PROS), foveal outer segment pigment epithelial thickness (FOSPET) and ellipsoid zone (EZ) extent were measured. A new variable, FOSPET-PROS ratio (FPR), obtained by dividing FOSPET by PROS is defined and correlated to corrected distance visual acuity (CDVA) in logMAR using linear regression. Results Out of 113 patients, 71 were males and 42 females. Mean age of the patients was 35.4 ± 15.1 years. Mean CDVA was 0.33 ± 0.25 logMAR with no difference between the genders. Mean CRT (218.74 ± 83.5 μm) and FPR (1.63 ± 0.22) significantly correlated to CDVA with a correlation coefficient of r = − 0.139 ( p = 0.048) and r = 0.842 ( p = 0.0001), respectively. FOSPET (mean = 71.15 ± 13.8 μm) and PROS (mean = 44.85 ± 12.5 μm) did not show a significant correlation to CDVA, independent of FPR. Conclusions Retinal microstructural changes on SD-OCT, especially the FPR, can be used as a surrogate marker to monitor disease progression in the central retina in degenerative diseases like RP.

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.Tyr131Cys in family A, p.Arg150Pro in family B, p.Arg47His and p.Val216Ile in family C and p.Thr91Ile in family D. Among these, p.Tyr131Cys, p.Arg150Pro and p.Val216Ile have not been previously reported. Further, the inheritance pattern of BEST1 mutations in the families confirmed the diagnosis of ARB in probands in families A, B and C, while the inheritance of heterozygous BEST1 mutation in family D (p.Thr91Ile) was suggestive of BVMD. Interestingly, the ARB families A and B carry homozygous mutations while family C was a compound heterozygote with a mutation in an alternate BEST1 transcript isoform, highlighting a role for alternate BEST1 transcripts in bestrophinopathy. In the BVMD family D, the heterozygous BEST1 mutation found in the proband was also found in the asymptomatic parent, suggesting an incomplete penetrance and/or the presence of additional genetic modifiers. Our report expands the list of pathogenic BEST1 genotypes and the associated clinical diagnosis.

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. Inherited retinal diseases are a major source of blindness around the world where a large number of causative genes have been identified, paving the way for personalized diagnostics in the clinic. Developments in functional genetics and gene transfer techniques has also led to the first FDA approval of gene therapy for LCA, a childhood blindness. Many such retinal diseases are the focus of various clinical trials, making clinical diagnoses of retinal diseases, their underlying genetics and the studies of natural history important. Here, we review methodologies for identifying new genes and variants associated with various ocular disorders and the complexities associated with them. Thereafter we discuss briefly, various retinal diseases and the application of genomic technologies in their diagnosis. We also discuss the strategies, challenges, and potential of gene therapy for the treatment of inherited and acquired retinal diseases. Additionally, we discuss the translational aspects of gene therapy, the important vector types and considerations for human trials that may help advance personalized therapeutics in ophthalmology. Retinal disease research has led the application of precision diagnostics and precision therapies; therefore, this review provides a general understanding of the current status of precision medicine in ophthalmology.

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