Kimberlie Vandenburgh

TL;DR: A combination of positional and candidate gene methods are used to identify a single non-conservative mutation in the gene EFEMP1 (for EGF-containing fibrillin-like extracellular matrix protein 1) in all families studied, which may aid in the development of an animal model for drusen, as well as in the identification of other genes involved in human macular degeneration.

TL;DR: A base substitution was identified in the peripherin (RDS) gene and DMA sequencing revealed a G to A transition in codon 167 that substitutes aspartic acid for a highly conserved glycine strongly suggesting that it causes the macular disease in this family of patients.

TL;DR: Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration is consistent with prior studies on this topic.

TL;DR: The nucleotide diversity of the ABCA4 coding region, a collective measure of the number and prevalence of polymorphic sites in a region of DNA, was found to be 1.28, a value that is 9 to 400 times greater than that of two other macular disease genes that were examined in a similar fashion.

TL;DR: In this article, the TIMP3 point mutation was found to cause night blindness in Sorsby's fundus dystrophy patients with 50,000 IU/d in early stages of the disease.