Early onset cataract: prominent feature in myotonic dystrophy type 2


Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystem disorder due to a (CCTG)n expansion in intron 1 of the CNBP gene. Early-onset posterior subscapular cataract (<50 years of age) can be the presenting feature of the disease, preceding all other symptoms. The purpose of this study was to assess the occurrence of posterior subcapsular cataract as an early manifestation of the disease in a cohort of patients with genetically confirmed DM2. We studied retrospectively patients with a molecular diagnosis of PROMM followed in our institution for the presence of posterior subscapular cataract with onset before the age of 50 years.


Leave A Reply