Arcilee Frost

TL;DR: Recent developments in the molecular biology of AMD are reviewed, including single nucleotide polymorphisms within the Factor H gene, which may predispose individuals to the susceptibility of AMD as well as single nucleophile polymorphisms that may confer a protective effect.

TL;DR: The clinical, histopathologic, and molecular genetic and treatment options of X-linked retinoschisis are reviewed, to improve the clinical management of this disorder, and to better understand retinal function and development.

TL;DR: The evidence is reviewed for families with exon 2 mutations of the collagen COL2A1 gene presenting in a distinct manner from families with mutations in the remaining 53 exons, as well as other hereditary vitreoretinal degenerations without significant systemic manifestations.

TL;DR: Clinical, genetic, and genealogical aspects of autosomal dominant Stargardt-like macular dystrophy are reviewed and the identification of a disease-causing gene that is involved in fatty acid metabolism may have implications in the study of the more common age-related macular degeneration.

TL;DR: Identification of the mutation in this family enables diagnosis of individuals at risk for potentially blinding complications in this condition at an early age and allows for more comprehensive genetic counseling and directs clinical monitoring to family members inheriting the disease gene.