The purpose of the study is to identify the genes that are involved in eye growth specifically in individuals and families with nearsightedness. This effort may lead to effective therapies for the severe forms of this potentially blinding eye disease.
Aim 1: Identify novel myopia causal genes in a cohort of 30 out of 300+ families segregating for high-grade myopia by using linkage mapping followed by whole exome massively parallel sequencing and data analysis using multiple (customized and commercial) bioinformatics scripts and pipelines.
Aim 2: Conduct functional testing to assess the pathogenicity of candidate causative mutations. This aim will be conducted in animal models and is not further described in this human subjects protocol.
Aim 3: Determine and implement methodologies to converge expanded genotype with phenotype data, and identify common biological pathways.
The majority of the recruitment of subjects was completed before this study was transferred from Duke University to UW-Madison with the PI. We will recruit approximately 50 additional subjects at UW-Madison.
One or more family members with a diagnosis of myopia of -5.00 D or greater*
Individual with a diagnosis of myopia of -5.00 D or greater***
History of myopia onset prior to age 12 years**
History of myopia prior to refractive surgery or cataract extraction**
Willingness/ability to undergo complete ophthalmologic evaluation with examination of the fundus by indirect ophthalmoscopy and refraction (or for those unable to travel to the study site, willingness/ability to provide at a minimum current refraction information by signing a medical records release as needed)
Willingness/ability to provide axial eye length and corneal thickness measurements using an IOL Master non-contact A-scan ultrasound instrument (or for those unable to travel to the study site, willingness/ability to provide this information, if available, by signing a medical records release as needed)
Willingness/ability to provide a DNA sample in the form of a blood draw or saliva collection
No history of a childhood eye disorder that may predispose to myopia
No evidence of myopia as part of an underlying genetic syndrome
Must be competent to provide informed consent
Must have weighed more than 1250 g at birth by self- or parental report
Applies only to family members of existing subjects
**Applies only to new subjects (patients whose families are not already part of the study)
**Applies only to new subjects (patients whose families are not already part of the study) and all minors.
Please contact the study coordinator with questions: Nickie Stangel, (608) 263-8783