Genetic Analysis of Macular Telangiectasia
type: CreativeWork
description: Macular telangiectasia type 2, or MacTel, is an adult onset retinal disease that causes progressive loss of central vision, usually beginning between the 5th and 7th decades of life. Macular degenerative diseases comprise a large portion of the blinding diseases affecting people over the age of 50. The collective burden of vision loss and low vision includes the impact on patients in loss of independence and decline of self-reported quality of life, as well as significant resource allocation in medical and supportive care. There are no cures for macular diseases; currently available treatments may slow the progression in some cases, but patients remain at risk of losing their eyesight and the independence that vision affords. While macular telangiectasia is not as prevalent as other macular degenerative diseases, such as age-related macular degeneration, elucidating the causes of MacTel may reveal mechanisms that are common to other macular diseases, providing clues to guide research into possible treatment targets. In this work, I have assembled the first cohort of MacTel patients and their family members in collaboration with the MacTel Project, an international consortium of researchers and clinicians dedicated to studying this disease. I have identified and analyzed families with multiple affected relatives in which MacTel appears to be an inherited disease. The goal of this work has been to identify a genetic cause for the disease in these families. To that end, I used genotyping data from approximately 900,000 single nucleotide polymorphism per individual to create sets of genetic markers for linkage analysis. I analyzed these markers using two-point and multipoint linkage algorithms to search for a region of the genome that was inherited in conjunction with the phenotype more often than would be expected by chance alone, with the goal of finding a causative genetic variant. This analysis resulted in the identification of a region of chromosome 1 spanning appr…
abstract: Macular telangiectasia type 2, or MacTel, is an adult onset retinal disease that causes progressive loss of central vision, usually beginning between the 5th and 7th decades of life. Macular degenerative diseases comprise a large portion of the blinding diseases affecting people over the age of 50. The collective burden of vision loss and low vision includes the impact on patients in loss of independence and decline of self-reported quality of life, as well as significant resource allocation in medical and supportive care. There are no cures for macular diseases; currently available treatments may slow the progression in some cases, but patients remain at risk of losing their eyesight and the independence that vision affords. While macular telangiectasia is not as prevalent as other macular degenerative diseases, such as age-related macular degeneration, elucidating the causes of MacTel may reveal mechanisms that are common to other macular diseases, providing clues to guide research into possible treatment targets. In this work, I have assembled the first cohort of MacTel patients and their family members in collaboration with the MacTel Project, an international consortium of researchers and clinicians dedicated to studying this disease. I have identified and analyzed families with multiple affected relatives in which MacTel appears to be an inherited disease. The goal of this work has been to identify a genetic cause for the disease in these families. To that end, I used genotyping data from approximately 900,000 single nucleotide polymorphism per individual to create sets of genetic markers for linkage analysis. I analyzed these markers using two-point and multipoint linkage algorithms to search for a region of the genome that was inherited in conjunction with the phenotype more often than would be expected by chance alone, with the goal of finding a causative genetic variant. This analysis resulted in the identification of a region of chromosome 1 spanning appr…
author: Parmalee, Nancy
language: English
keywords: Genetics, Ophthalmology
date published: 2012
date modified: 2026-07-24T01:44:18Z
provider: Columbia University
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: Columbia University

PropertyValue
property ID: DOI
value: 10.7916/D8X06F1H