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Journal Articles (5)
Meeting Abstract (3)

Journal

Investigative Ophthalmology & Visual Science (8)

Article Type

ARVO Annual Meeting Abstract (3)
Genetics (3)
Letters to the Editor (1)
Retina (1)

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Eye Anatomy and Disorders (5)
Genetics (5)
Biochemistry and Molecular Biology (1)
Clinical and Epidemiologic Research (1)
Cornea (1)
Retina (1)
Visual Neuroscience (1)

Tags

mutation (4)
optic atrophy, hereditary, leber (3)
dna, mitochondrial (2)
india (2)
autosomal recessive inheritance (1)
carrying (1)
cohort studies (1)
cornea (1)
diagnostic imaging (1)
electroretinography (1)

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ARVO Annual Meeting Abstract July 2018

Genetic Survey of the Primary Mitochondrial Mutations along with Clinical Correlation in suspected Leber Hereditary Optic Neuropathy (LHON) patients from an Indian Cohort

Srilekha Sundaramurthy; Jayaprakash Mani; Vidhya Dharani; Soumittra Nagasamy; Sripriya Sarangapani; Mathavan Sinnakaruppan; Ambika SelvaKumar

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3355. doi:

Genetics May 2018

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus

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Bao Jian Fan; Xueli Chen; Nisha Sondhi; P. Ferdinamarie Sharmila; Nagasamy Soumittra; Sarangapani Sripriya; Srinivasan Sacikala; Rashima Asokan; David S. Friedman; Louis R. Pasquale; X. Raymond Gao; Lingam Vijaya; Jessica Cooke Bailey; Veronique Vitart; Stuart MacGregor; Christopher J. Hammond; Chiea Chuen Khor; Jonathan L. Haines; Ronnie George; Janey L. Wiggs; for the Mexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium
TAGS: cohort studies, cornea, family, genetic pedigree, genome-wide association study, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2495-2502. doi: https://doi.org/10.1167/iovs.17-23536

Includes: Supplemental Content

Letters to the Editor January 2018

Author Response: Penetrance of the LHON Mutation m.11778G>A May Depend on Factors Other Than Haplotype or Heteroplasmy Rate

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Nahid Akhtar Khan; Periyasamy Govindaraj; Nagasamy Soumittra; Sonika Sharma; Sundaramoorthy Srilekha; Selvakumar Ambika; Ayyasamy Vanniarajan; Angamuthu Kanikannan Meena; Megha S. Uppin; Challa Sundaram; Parayil Sankaran Bindu; Narayanappa Gayathri; Arun B. Taly; Kumarasamy Thangaraj
TAGS: haplotypes, heteroplasmy, mutation, optic atrophy, hereditary, leber, penetrance, genetic
Invest. Ophthalmol. Vis. Sci.. 2018; 59(1):382. doi: https://doi.org/10.1167/iovs.17-23468

Genetics August 2017

Leber's Hereditary Optic Neuropathy–Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India

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Nahid Akhtar Khan; Periyasamy Govindaraj; Nagasamy Soumittra; Sonika Sharma; Sundaramoorthy Srilekha; Selvakumar Ambika; Ayyasamy Vanniarajan; Angamuthu Kanikannan Meena; Megha S. Uppin; Challa Sundaram; Parayil Sankaran Bindu; Narayanappa Gayathri; Arun B. Taly; Kumarasamy Thangaraj
TAGS: dna, mitochondrial, mitochondria, mutation, optic atrophy, hereditary, leber, india
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):3923-3930. doi: https://doi.org/10.1167/iovs.16-20695

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Novel mutations in SLC24A1 leading to congenital stationary night blindness (CSNB)

Marion Neuille; Sivasankar Malaichamy; Maria Vadala; Ramya Sachidanandam; Tharigopala Arokiasamy; Jose Sahel; Parveen Sen; Isabelle S Audo; Nagasamy Soumittra; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):658. doi:

Genetics June 2013

Haplogroup Heterogeneity of LHON Patients Carrying the m.14484T>C Mutation in India

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Nahid Akhtar Khan; Periyasamy Govindaraj; Nagasamy Soumittra; Sundaramoorthy Srilekha; Selvakumar Ambika; Ayyasamy Vanniarajan; Angamuthu K. Meena; Megha S. Uppin; Challa Sundaram; Arun B. Taly; Parayil Sankaran Bindu; Narayanappa Gayathri; Kumarasamy Thangaraj
TAGS: heterogeneity, india, mutation, optic atrophy, hereditary, leber, carrying, dna, mitochondrial
Invest. Ophthalmol. Vis. Sci.. 2013; 54(6):3999-4005. doi: https://doi.org/10.1167/iovs.13-11925

Retina December 2009

CERKL Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy

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Tomas S. Aleman; Nagasamy Soumittra; Artur V. Cideciyan; Alexander M. Sumaroka; Vedam Lakshmi Ramprasad; Waldo Herrera; Elizabeth A. M. Windsor; Sharon B. Schwartz; Robert C. Russell; Alejandro J. Roman; Chris F. Inglehearn; Govindasamy Kumaramanickavel; Edwin M. Stone; Gerald A. Fishman; Samuel G. Jacobson
TAGS: autosomal recessive inheritance, mutation, progressive cone-rod dystrophy, retina, retinal diseases, retinitis pigmentosa, retinal cone, rod photoreceptors, photoreceptors, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2009; 50(12):5944-5954. doi: https://doi.org/10.1167/iovs.09-3982

ARVO Annual Meeting Abstract May 2007

Identification and Characterization of SLC4A11 Mutations in Fuchs Endothelial Corneal Dystrophy (FECD)

E. N. Vithana; V. H. K. Yong; P. Morgan; V. Ramprasad; S. Nagasamy; G. Kumaramanickevel; J. R. Casey; D. T. H. Tan; C. P. Pang; T. Aung

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):1329. doi:

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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