Retinal phenotype–genotype correlation of pediatric patients expressing mutations in the Norrie disease gene
WC Wu, K Drenser, M Trese, A Capone… - Archives of …, 2007 - jamanetwork.com
Objective To correlate the ophthalmic findings of patients with pediatric vitreoretinopathies
with mutations occurring in the Norrie disease gene (NDP). Methods One hundred nine
subjects with diverse pediatric vitreoretinopathies and 54 control subjects were enrolled in
the study. Diagnoses were based on retinal findings at each patient's first examination.
Samples of DNA from each patient underwent polymerase chain reaction amplification and
direct sequencing of theNDPgene. Results Eleven male patients expressing mutations in …
with mutations occurring in the Norrie disease gene (NDP). Methods One hundred nine
subjects with diverse pediatric vitreoretinopathies and 54 control subjects were enrolled in
the study. Diagnoses were based on retinal findings at each patient's first examination.
Samples of DNA from each patient underwent polymerase chain reaction amplification and
direct sequencing of theNDPgene. Results Eleven male patients expressing mutations in …
