LABORATORY DATA chromosomal assignment chromosome 5q localization gene, structural-functional anomalies gene analysis-DNA analysis TGFBI (CSD2) (CDGG1) (CSD) (BIGH3) transforming growth factor, beta-induced 68kD, gene chr.5q31 OCULAR DISORDERS corneal defects not including dystrophy isolated ocular defects: corneal dystrophy, isolated defects corneal dystrophy, isolated defect corneal dystrophy...

Autosomal dominant North Carolina macular dystrophy (NCMD) or central areolar pigment epithelial dystrophy (CAPED) is an allelic disorder that maps to an approximately 7.2 cM interval between DNA markers at D6S424 and D6S1671 on 6q14-q16.2. The further refinement of the disease locus has been hindered by the lack of additional recombination events involving the critical region. In this study, w...

The hereditary Thiel-Behnke corneal dystrophy, first described in 1967, is frequently confused with Reis-Bucklers dystrophy. Both conditions affect Bowman’s layer and can be difficult to differentiate both clinically and histopathologically. Previously, electron microscopic studies of corneal dystrophies affecting Bowman’s layer identified characteristic ‘‘curly fibres,’’ but it was unclear whe...

Best vitelliform macular dystrophy is the second most common type of hereditary fundus dystrophies. Our case report describes twin brothers of Afghan family who developed Best vitelliform macular dystrophy. One of them developed choroidal neovascularization in one eye which was treated with single intravitreal injection of bevacizumab. The patient showed stable vision and did not have any recur...

purpose: to report the confocal scan features in a case with clinical diagnosis of meesmann corneal dystrophy (mcd). case report: a 17-year-old female with recurrent episodes of corneal erosion and a clinical diagnosis of mcd underwent in vivo confocal scanning of both corneas. the confocal scan features included hyporeflective round-shaped areas measuring 6.8 to 41.4 mm within the superficial ...

PURPOSE To examine the extent of mobility limitations in patients with age-related macular degeneration (AMD), glaucoma, or Fuchs' corneal dystrophy compared with that in a control group of older adults with good vision. METHODS Two hundred seventy-two patients (68 with AMD, 49 with Fuchs' dystrophy, 82 with glaucoma, and 73 controls) from the ophthalmology clinics of Maisonneuve-Rosemont Hos...

PURPOSE Low intraocular pressure (IOP) measured by Goldmann applanation tonometry (GAT) is one of the ocular manifestations of Steinert's myotonic dystrophy. The goal of this study was to evaluate the corneal-compensated IOP as well as corneal properties (central corneal thickness and corneal hysteresis) in patients with myotonic dystrophy. METHODS A total of 12 eyes of 6 patients with Steine...

a:To repcst the association of macular dystrophy with matemslly inherited diabetes mellitus, deafness and " pigmentary due to a mutation of mitochondrial DNA (tRNA M&~&we examined 8 diabetic probands with this mutation to precise the characteris& of the tetinopathy associated with this mutation. R&D: These probands belonged to 6 different families; six of them had deafness. The 8 patients had a...