Neruban Kumaran
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View article: Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study
Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study Open
UK National Institute for Health Research and Moorfields Eye Charity.
View article: Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa
Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa Open
AAV5-hRKp.RPGR demonstrated an anticipated and manageable AE profile through 52 weeks. Safety and efficacy findings support investigation in a phase 3 trial.
View article: First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia
First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia Open
AAV8-hCARp.hCNGB3 for CNGB3-associated ACHM demonstrated an acceptable safety and tolerability profile. Improvements in several efficacy parameters indicate that AAV8-hCARp.hCNGB3 gene therapy may provide benefit. These findings, with the …
View article: Comparison of Hand Grip Strength among Health Care Workers and Students
Comparison of Hand Grip Strength among Health Care Workers and Students Open
Background: The information is gathered from a wide spectrum of health-care professionals, including medical students, nurses, and doctors. The study takes place at SMCH in Chennai. For students and health workers, the offered data is also…
View article: The Impact of the First Wave of Covid 19 on Orthopaedic Surgeries in a Tertiary Care Teaching Hospital
The Impact of the First Wave of Covid 19 on Orthopaedic Surgeries in a Tertiary Care Teaching Hospital Open
Background: The Covid 19 was declared a global pandemic that had a sizeable impact on the health care services in the surgical field including the orthopaedic department. There was additionally a decreased accessibility to healthcare perso…
View article: Assessment of Femoral Neck-shaft Angle on Plain X-rays and its Clinical Implications
Assessment of Femoral Neck-shaft Angle on Plain X-rays and its Clinical Implications Open
Background: Femoral neck-shaft angle is an important parameter for evaluating the biomechanics of the hip joint. It plays a pivotal role in surgeries for developmental dysplasia of the hip, neuromuscular disorders of the lower limb, proxim…
View article: Outcomes Following Pars Plana Vitrectomy for Severe Ocular Trauma
Outcomes Following Pars Plana Vitrectomy for Severe Ocular Trauma Open
Purpose: To investigate outcomes and presenting characteristics for subjects undergoing pars plana vitrectomy for ocular trauma. Methods: Retrospective study of 113 patients who underwent pars plana vitrectomy for severe ocular trauma at […
View article: Long-Term Investigation of Retinal Function in Patients with Achromatopsia
Long-Term Investigation of Retinal Function in Patients with Achromatopsia Open
We demonstrate a highly reproducible assessment of MS. Retinal function including MS, volumetric indices, and CS are stable in ACHM. Improvement of fixation stability and small changes of BCVA over time may be part of the natural history o…
View article: Validation of a Vision-Guided Mobility Assessment for <i>RPE65</i>-Associated Retinal Dystrophy
Validation of a Vision-Guided Mobility Assessment for <i>RPE65</i>-Associated Retinal Dystrophy Open
This assessment of vision-guided mobility, validated in a dedicated cohort of subjects with RPE65-RD, is a relevant and quantifiable outcome measure for RPE65-RD.
View article: Retinal Structure in<i>RPE65</i>-Associated Retinal Dystrophy
Retinal Structure in<i>RPE65</i>-Associated Retinal Dystrophy Open
We identified the presence of autofluorescence in half of our subjects, with foveal hypoplasia also noted in half of our cohort. EZW, and to a lesser extent EZA, were robust measures of retinal degeneration and represent valuable metrics t…
View article: Detailed clinical characterisation, unique features and natural history of autosomal recessive <i>RDH12</i>-associated retinal degeneration
Detailed clinical characterisation, unique features and natural history of autosomal recessive <i>RDH12</i>-associated retinal degeneration Open
Background Defects in retinol dehydrogenase 12 ( RDH12 ) account for 3.4%–10.5 % of Leber congenital amaurosis and early-onset severe retinal dystrophy (EOSRD) and are a potential target for gene therapy. Clinical trials in inherited retin…
View article: Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease
Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease Open
Measuring the area of EZ loss was more sensitive compared with transverse EZ width loss measurements and will be valuable for natural history studies and clinical trials requiring sensitive and reliable structural endpoints.
View article: Adaptive Optics Retinal Imaging in<i>CNGA3</i>-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability
Adaptive Optics Retinal Imaging in<i>CNGA3</i>-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability Open
The remnant cone mosaics were irregular and variably disrupted, with significantly lower peak foveal cone density than unaffected individuals. Variability was also seen among subjects with identical mutations. Therefore, subjects should be…
View article: Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up
Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up Open
This longitudinal study of retinal structure in ACHM represents the largest cohort and longest follow-up period to date. Our findings support the presiding notion that ACHM is essentially a stationary condition regarding retinal structure,…
View article: Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease
Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease Open
This study highlights the use of microperimetry and full-field static perimetry, as well as volumetric indices of retinal function, in monitoring disease progression.
View article: A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in<i>RPE65</i>-Associated Leber Congenital Amaurosis
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in<i>RPE65</i>-Associated Leber Congenital Amaurosis Open
Volumetric assessment of central 30° visual field sensitivity, V30, is a useful independent measure of retinal function and, in our data, represented the best metric to monitor deterioration of retinal sensitivity in RPE65-LCA. Furthermore…
View article: Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies Open
© 2018 American Academy of Ophthalmology Purpose: To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP…
View article: Severe Loss of Tritan Color Discrimination in <i>RPE65</i> Associated Leber Congenital Amaurosis
Severe Loss of Tritan Color Discrimination in <i>RPE65</i> Associated Leber Congenital Amaurosis Open
The computerized color vision tests adopted in this study provide detailed information about color discrimination in adult RPE65-LCA patients. The condition is associated with severe impairment of color discrimination, particularly along t…
View article: The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6 Open
Biallelic mutations in the photoreceptor-expressed aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) are associated with autosomal recessive Leber congenital amaurosis (LCA), the most severe form of inherited retinopathy in earl…
View article: A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia
A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia Open
This study offers new insights into PA in ACHM. It provides the first structured evidence of the great significance of this symptom to patients, suggesting that PA should be considered as an additional outcome measure in therapeutic trials…
View article: Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions Open
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupi…