J. Fielding Hejtmancik

Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma.

Four novel mutations were identified in 3 families with EL, suggesting an intimate link between specific mutations in FBN1 and LTBP2 and isolated EL and angle closure glaucoma.

Clinical features of patients with mutations in genes for nanophthalmos.

Totally, 67 patients from 63 families harboured 57 P/LP variants in the four genes, including 30 in(47.6%), 23 in(36.5%), 5 in(7.9%) and 5 in(7.9%).