Dermochondral corneal dystrophy (of FranVois) has been reported rarely in the literature. It consists of a triad of findings characterised by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities. We present two brothers who display previously unreported ocular find...

PURPOSE To report 1-year results of laser in situ keratomileusis (LASIK) in 7 eyes with corneal endothelial guttata and a family history of Fuchs' endothelial dystrophy. SETTING John Moran Eye Center, University of Utah, Salt Lake City, Utah, USA. METHODS A retrospective chart review was performed of 4 patients (7 eyes) who had trace to 1+endothelial guttata and a family history of Fuchs dy...

OBJECTIVE To review 30 years' clinical experience with Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty (PK). METHODS We reviewed the clinical records of patients diagnosed histopathologically as having Fuchs corneal endothelial dystrophy who underwent PK at Duke University Medical Center between January 1, 1972, and December 31, 2001. This observational case series inc...

One among the corneal diseases causing significant visual impairment and blindness is corneal dystrophies, which is a heterogeneous subset of hereditary corneal disorders that are generally bilateral, non-inflammatory and often result in corneal opacities, requiring corneal transplantation [1]. To add to this group and also which is closely related to dystrophy are the degenerative conditions o...

BACKGROUND Numerous syndromes with myopia and hearing loss have been described up to now. We present a family with pathologic myopia, corneal dystrophy, and deafness distinct from these syndromes. CASES Ten patients in the same Turkish family were evaluated by ophthalmologic, audiologic, physical, radiologic, genetic, serologic, and biochemical examinations. OBSERVATIONS Ophthalmic examinat...

Dermochondral corneal dystrophy (of FranVois) has been reported rarely in the literature. It consists of a triad of findings characterised by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities. We present two brothers who display previously unreported ocular find...

BACKGROUND Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the pericentromeric region of chromosome 20. Another endothelial dystrophy, posterior polymorphous dys...

PURPOSE To describe a previously unreported clinical entity of progressive extensive macular atrophy and pseudodrusen-like appearance in middle-aged patients. DESIGN Clinical, electrophysiologic, and molecular retrospective study. METHODS The database of an outpatient clinic unit for genetic sensory diseases was screened for patients older than 40 years with uncharacterized macular dystroph...