Antizipation bei Patienten mit Christbaumschmuckkatarakt

Abstract

A relationship existed between CTC and manifest DM in 16.7% of the patients with CTC. A hypothesis states that the other 83.3% might have premutations in the DMPK gene, which might lead to a complete mutation after transmission through subsequent generations. In the meantime, molecular genetic DM tests are available. Because of clinical heterogeneity and the anticipation phenomenon in DM, confirmation with such molecular genetic DM tests should be obtained.

Scheimpflug imaging in Christmas tree cataract

“…[12] Association with myotonic dystrophy is reported in the literature. [3] Our patient's neurological examination was normal, and he was advised follow-up since he was comfortable with his vision.…”

A sparkling cataract

“…Sparkling cataract opacities (also known as Christmas tree cataracts) have been described as “glittering,” “multicoloured,” and “of polychromic lustre.” Proposed causes include defective lens metabolism, cholesterol formation, cystine accumulations, and light diffraction from fused cell membranes 123456…”

“…However, a sparkling cataract may indicate the presence of associated metabolic conditions—for example, myotonic dystrophy, chronic liver disease, and renal dysfunction 689. This patient had a history of chronic hepatic cirrhosis caused by schistosomiasis and left renal atrophy.…”