Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent

Ophthalmic Genetics
Adda VillanuevaRadha Ayyagari


To investigate the clinical characteristics and genetic basis of inherited retinal degeneration (IRD) in six unrelated pedigrees from Mexico. A complete ophthalmic evaluation including measurement of visual acuities, Goldman kinetic or Humphrey dynamic perimetry, Amsler test, fundus photography, and color vision testing was performed. Family history and blood samples were collected from available family members. DNA from members of two pedigrees was examined for known mutations using the APEX ARRP genotyping microarray and one pedigree using the APEX LCA genotyping microarray. The remaining three pedigrees were analyzed using a custom-designed targeted capture array covering the exons of 233 known retinal degeneration genes. Sequencing was performed on Illumina HiSeq. Reads were mapped against hg19, and variants were annotated using GATK and filtered by exomeSuite. Segregation and ethnicity-matched control sample analyses were performed by dideoxy sequencing. Six pedigrees with IRD were analyzed. Nine rare or novel, potentially pathogenic variants segregating with the phenotype were detected in IMPDH1, USH2A, RPE65, ABCA4, and FAM161A genes. Among these, six were known mutations while the remaining three changes in USH2A, RPE65...Continue Reading


Sep 1, 1988·Archives of Ophthalmology·J R Heckenlively
Apr 18, 1998·Proceedings of the National Academy of Sciences of the United States of America·H MorimuraT P Dryja
Apr 1, 2005·Acta Ophthalmologica Scandinavica·M Refugio Rivera-VegaSergio Alberto Cuevas-Covarrubias
Aug 27, 2005·Investigative Ophthalmology & Visual Science·Jana ZernantRando Allikmets
Sep 19, 2009·American Journal of Medical Genetics. Part a·Hector J Perez-CanoJuan C Zenteno
Apr 15, 2010·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Ling-Yuan KongAmy B Heimberger
Aug 14, 2010·American Journal of Human Genetics·Thomas LangmannCarlo Rivolta
Aug 14, 2010·American Journal of Human Genetics·Dikla Bandah-RozenfeldDror Sharon
Nov 17, 2010·Ophthalmic Genetics·Oscar F Chacon-CamachoJuan C Zenteno
Sep 14, 2011·Investigative Ophthalmology & Visual Science·Jana ZernantRando Allikmets
Oct 10, 2012·Archives of Ophthalmology·Jacque L DuncanRadha Ayyagari
Mar 7, 2014·Investigative Ophthalmology & Visual Science·Adda VillanuevaErica E Davis
Oct 31, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Xiu-Feng HuangZi-Bing Jin
Nov 7, 2014·JAMA Ophthalmology·Fiona Blanco-KellyCarmen Ayuso
Jan 1, 2016·Investigative Ophthalmology & Visual Science·Razek Georges CoussaRobert K Koenekoop
Oct 14, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kinga M BujakowskaEric A Pierce
Apr 19, 2017·Investigative Ophthalmology & Visual Science·Lin LiJ Fielding Hejtmancik

❮ Previous
Next ❯


Sep 8, 2021·Experimental Eye Research·Rosario Lopez-RodriguezCarmen Ayuso

❮ Previous
Next ❯

Related Concepts

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.


Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.


Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.