New to MyHealth?
Manage Your Care From Anywhere.
Access your health information from any device with MyHealth. ÌýYou can message your clinic, view lab results, schedule an appointment, and pay your bill.
ALREADY HAVE AN ACCESS CODE?
DON'T HAVE AN ACCESS CODE?
NEED MORE DETAILS?
MyHealth for Mobile
WELCOME BACK
Atypical mild enhanced S-Cone syndrome with novel compound heterozygosity of the NR2E3 gene
ÌÇÐÄ´«Ã½
Atypical mild enhanced S-Cone syndrome with novel compound heterozygosity of the NR2E3 gene AMERICAN JOURNAL OF OPHTHALMOLOGY Lam, B. L., Goldberg, J. L., Hartley, K. L., Stone, E. M. 2007; 144 (1): 157-159Abstract
To report mild enhanced s-cone syndrome (ESCS) associated with a novel heterozygous mutation of the NR2E3 gene.Observational case report.Clinical examination, optical coherence tomography (OCT), electroretinography (ERG), genetic analysis, and protein homology modeling.Examination of a 9-year-old girl with acute visual loss of the left eye showed visual acuity of 20/30 in the right eye and 20/200 in the left eye; OCT revealed a choroidal neovascular membrane (CNVM) in the left fovea and cystic maculopathy in the right eye. Full-field ERG showed supranormal s-cone responses, reduced rod response, and characteristic ESCS waveform in photopic cone response but not in scotopic bright-flash response. Sequence analysis revealed heterozygous mutations in the NR2E3 gene, c.767C-->T yielding a substitution p.Ala256Val, and a mutation in the splice site before exon 2, c.119-2 A-->C.The p.Ala256Val mutation affects the ligand binding domain of the NR2E3 nuclear receptor only, resulting in modestly impaired ESCS ERG results.
View details for
View details for