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...

BACKGROUND It has been hypothesized that the macular carotenoid pigments lutein and zeaxanthin may protect against macular and retinal degenerations and dystrophies. OBJECTIVE To test this hypothesis by objectively measuring lutein and zeaxanthin levels in a noninvasive manner in patients who have retinitis pigmentosa (RP), choroideremia (CHM), and Stargardt macular dystrophy and comparing th...

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...

PURPOSE To report 2 cases of delayed spontaneous Descemet membrane (DM) reattachment following big-bubble deep anterior lamellar keratoplasty (DALK). METHODS A 21-year-old man with keratoconus and a 36-year-old woman with corneal macular dystrophy underwent big-bubble DALK. No injury to DM was noted intraoperatively or postoperatively. Postoperatively, the patients developed central DM detach...

B utterfly shaped macular dystrophy was first described by Deutman et al. in 1970. It is characterised by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium. Lesions consist of 3–5 ‘‘wings,’’ which resemble the wings of a butterfly. Affected patients present with a subnormal electrooculogram and normal or slightly diminished visual acuity. T...

NEUROLOGICAL DISORDERS mental retardation mental retardation OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects strabismus convergent, esotropia, misalignment of the visual axes of the eyes iris anomalie...

PURPOSE To determine the extracellular matrix proteins involved in the formation of human granular and lattice type I corneal stromal dystrophies, the expression patterns of fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 were compared in human corneal stromal dystrophy samples. METHODS Ten cases of granular dystrophy, 7 cases of lattice dystrophy, and 6 normal corneal buttons collected d...

Epigenetics has become an increasingly important area of biomedical research. Increasing evidence shows that epigenetic alterations influence common pathologic responses including inflammation, ischemia, neoplasia, aging, and neurodegeneration. Importantly, epigenetic mechanisms may have a pathogenic role in many complex eye diseases such as corneal dystrophy, cataract, glaucoma, diabetic retin...