Srinivas V. Goverdhan

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PURPOSE To determine the association of human leukocyte antigen (HLA) C and its cognate killer cell immunoglobulin-like receptor (KIR) ligands with age-related macular degeneration (AMD). METHODS HLA class I allele groups including the HLA-C principal alleles were genotyped in a cohort of 104 AMD cases and 93 controls by using the PCR-SSP(More)
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and(More)
PURPOSE To evaluate whether Chlamydia (C.) infections are associated with age-related macular degeneration (AMD) and to assess if this association is influenced by the complement factor H (CFH) Y402H or the high temperature requirement A serine peptidase 1 (HTRA1) rs11200638 risk genotypes. METHODS One hundred ninety-nine AMD patients with early and late(More)
PURPOSE To evaluate the effect of vitreomacular traction (VMT) on visual acuity outcomes and central retinal thickness (CRT) measurements after intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy for treatment of exudative age-related macular degeneration (AMD). METHODS In this retrospective series, the authors evaluate the clinical(More)
Treacher Collins syndrome (TCS) results from defects in a nucleolar trafficking protein (Treacle) coded for by the TCOF1 gene. 1 The purpose of this report is, firstly, to describe an isolated male with TCS associated with macular degeneration who also had a novel TCOF1 gene mutation and, secondly, to evaluate this mutation in a well characterised cohort of(More)
A 54-year-old gentleman presented to our Eye Unit following an optician referral with a 4-month history of gradual visual deterioration. Other significant symptoms included problems with his mobility and balance consistent with an ataxic sensory neuropathy for which he had not sought medical advice. History revealed a significant amount of cigarette smoking(More)
Purpose: To evaluate the effect of vitreomacular traction (VMT) on the visual acuity outcomes and central retinal thickness measurements following intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy for the treatment of exudative AMD. Methods: In this retrospective series, we evaluate the clinical records and optical coherence(More)
BACKGROUND Age-related macular degeneration (AMD) is a common condition of vision loss with disease development strongly influenced by environmental and genetic factors. Recently, 34 loci were associated with AMD at genome-wide significance. So far, little is known about a genetic overlap between AMD and other complex diseases or disease-relevant traits. (More)
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