PURPOSE To describe the morphologic features of Fuchs corneal dystrophy and compare them with those of bullous keratopathy. METHODS This was an observational case series. The study group consisted of 32 corneal buttons with a diagnosis of Fuchs dystrophy and the comparison group consisted of 22 corneal buttons with bullous keratopathy. Morphologic analysis was performed of corneal buttons fro...

BACKGROUND Identifying translatable, non-invasive biomarkers of muscular dystrophy that better reflect the disease pathology than those currently available would aid the development of new therapies, the monitoring of disease progression and the response to therapy. OBJECTIVE The goal of this study was to evaluate a panel of serum protein biomarkers with the potential to specifically detect s...

Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a corresponding healthy control group using structural brain magnetic resonance imaging at 3 T (T(1)/T(2)/diffusion-weighted). Voxel-based morphomet...

We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular dystrophy. This combination...

Corneal biopsy specimens from 3 patients with Cogan's microcystic corneal dystrophy were examined by light and electron microscopy. Specimens were taken from corneas showing microcysts, geographic or map-like areas, and refractile striae. In all samples there is a bilaminate subepithelial layer of fibrogranular material, the friability of which is probably the basis for recurrent erosions in th...

Posterior polymorphous dystrophy is a rare corneal dystrophy, usually detected by chance. This case series describes the morphologic features in the three different types of posterior polymorphous dystrophy using confocal microscopy.

A case of xeroderma pigmentosum with associated band-shaped nodular dystrophy of the cornea is discussed. Band-shapped nodular dystrophy of the cornea usually occurs in elderly Bantu men. Band-shaped nodular dystrophy in a young Bantu man suffering from a genetically determined solar sensitive disease lends credence to the possibility that band-shaped nodular dystrophy is a solar sensitive dise...

Muscle blood flow (MBF) was measured using the local (133)Xenon injection method in patients with Duchenne type muscular dystrophy (six), limb-girdle dystrophy (four), polymyositis (seven), and in normal controls (11). Measurements were made at rest and during hyperaemia induced by ischaemic exercise and by histamine injection. Capillary diffusion capacity was measured with the (51)Cr-EDTA meth...

Several abnormalities in the central nervous system were shown in patients with progressive muscular dystrophy using computerised tomography (CT) scans, electroencephalograms, psychometry, and ophthalmological methods. In congenital muscular dystrophy, the most characteristic finding in the CT scan was a low density area in the white matter, seen in 14 (56%) out of 25 cases. In Duchenne dystrop...