Genetic counseling in Pompe disease.

Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glucosidase enzyme by which it is degraded. It is a rare disease, accounting for 1:40.000 births. It is inherited as an autosomal recessive trait so that a couple presents a recurrent risk of 25% to have a child affected, at each pregnancy. The diagnosis could be achieved by biochemical and/or molecular testing. Carrier detection and prenatal diagnosis are available when the molecular defect is know

Corneal Thickness and Endothelial Cell Characteristics in Patients with Myotonic Dystrophy.

Corneal Thickness and Endothelial Cell Characteristics in Patients with Myotonic Dystrophy Purpose: To compare the characteristics of the endothelial cells of patients with myotonic dystrophy and those of normal subjects to determine if thicker corneas in patients with myotonic dystrophy are the result of their having abnormal endothelial cells leading to corneal edema. Design: Prospective, comparative case series. Participants: Fifty-two eyes of patients with myotonic dystrophy and 52 eyes of normal age- and gender matched subjects. Methods: Central corneal thickness (CCT) and endothelial cell counts and shape were measured with an SP 3000P specular microscope (Topcon, Tokyo, Japan) in patients with myotonic dystrophy and were compared with those of age- and gender-matched healthy subjects. Main Outcome Measures: Central corneal thickness, endothelial cell counts, pleomorphism, and coefficient of variation (CoV). Results: In patients with myotonic dystrophy, the mean ± standard deviation CCT measurement was 533 ± 38 µm; the mean ± standard deviation cell count was 2601±365 cell/mm2; and the mean ± standard deviation CoV was 23.3±4.4 (P<0.001). The mean ± standard deviation pleomorphism was 64.4 ±8.4%. In healthy subjects, the mean±standard deviation CCT measurement was 514±27 µm (P= 0.002); the mean± standard deviation cell count was 2649± 363 cell/mm2 (P= 0.48); the mean± standard deviation CoV was 27.6±5.5 (P<0.001); and the mean± standard deviation pleomorphism was 61.1 ± 8.6% (P= 0.04). Conclusions: Thicker corneas found in patients with myotonic dystrophy are not related to endothelial number or appearance as assessed in this study