Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy.

Objectives: To localize the gene that causes an autosomal recessively inherited vitreoretinal dystrophy that has not been described, to our knowledge, and to analyze a candidate gene mapped to 22q13 (fibulin-1 [FBLN1]).

Methods: Homozygosity mapping with 500 microsatellite markers spread over the whole genome (mean distance, 7.2 centimorgans [cM]) and mutation analysis of the complete coding region of FBLN1.

Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy.

Objectives: To describe the clinical phenotype of a novel autosomal recessively inherited vitreoretinal dystrophy in one generation of a family originating from eastern Switzerland.

Methods: A clinical study including electroretinographic investigations followed by laboratory-based genetic and molecular analysis. Four affected and 3 unaffected members of the family were examined.

Anatomic and functional results of vitrectomy and long-term intraocular tamponade for stage 2 macular holes.

Purpose: To investigate the results of pars plana vitrectomy combined with long-term intraocular tamponade in patients with a stage 2 macular hole.

Methods: In a retrospective study, 50 consecutive eyes operated on for stage 2 macular hole were reviewed. The surgical technique included pars plana vitrectomy, separation of the posterior hyaloid, and intraocular tamponade with either 12.