Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations.

CONCLUSIONS: Myopia was the most frequent ocular involvement. Patients with a PTC mutation revealed to have a smaller risk of EL; however, more studies are required to indicate the mechanism of the correlation. PMID: 27085269 [PubMed - in process]
Source: Canadian Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Can J Ophthalmol Source Type: research