Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

Familial macular degeneration is a clinically and genetically heterogeneous group of disorders characterized by progressive central vision loss. Here we show that an R373C missense mutation in the prominin 1 gene (PROM1) causes 3 forms of autosomal-dominant macular degeneration. In transgenic mice expressing R373C mutant human PROM1, both mutant and endogenous PROM1 were found throughout the layers of the photoreceptors, rather than at the base of the photoreceptor outer segments, where PROM1 is normally localized.

A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family.

Objective: To describe the clinical features of and genetic locus associated with autosomal-dominant macular dystrophy (MCDR5) in a large Greek family.

Methods: 26 members of a single family underwent clinical examinations and venepuncture. A genomewide linkage scan using 400 microsatellite markers distributed with an average spacing of 10 cM throughout the human genome.

A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy.

Introduction: In this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy.

Materials And Methods: Ophthalmologic examination and optical coherence tomography (OCT) were performed in 2 members of this family. Mutational screening was performed by single-strand conformation polymorphism (SSCP) and direct sequencing of PCR-amplified DNA fragments, corresponding to the 11 exons of the gene.

[Relationship between clinical findings and subgingival microbial flora in periodontitis (1)].

The purpose of this study was to examine the relationship between clinical findings and subgingival microbial flora in periodontitis. The results obtained were as follows: 1. In a phase-contrast microscopic study, no correlation was found between the clinical findings, total bacteria or proportional distribution of spirochetes or motile rods in the periodontal pocket.