Abstract:
OBJECTIVE:To describe the clinical and electrophysiological characterization of four family members from three generations who have X-linked infantile periodic alternating nystagmus (XIPAN). METHODS:Complete clinical ophthalmological evaluation, pedigree analysis, electroretinograms (ERG), eye movement recordings (EMR), color vision, and fundus photography were performed on all subjects. RESULTS:Three males in two generations and one female were examined. Clinical examinations showed a jerk/pendular nystagmus with a latent component, strabismus, and a significant refractive error in the three affected males, while the female had only myopic astigmatism. ERG, color contrast, and fundus examinations were normal in all four family members. All four family members showed EMR abnormalities with infantile jerk/dual jerk and pendular nystagmus waveforms. The female had nystagmus present on EMR only and all patients showed (a)periodicity to their nystagmus. CONCLUSIONS:In this family with no other congenital visual sensory system disease, affected males had obvious periodic alternating nystagmus, strabismus, and refractive errors, while the female had clinically "silent" periodic nystagmus that is probably a marker for the carrier state.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Hertle RW,Yang D,Kelly K,Hill VM,Atkin J,Seward Adoi
10.1080/13816810590968014subject
Has Abstractpub_date
2005-06-01 00:00:00pages
77-84issue
2eissn
1381-6810issn
1744-5094pii
XWV165RQ1RQ475PVjournal_volume
26pub_type
杂志文章abstract:OBJECTIVES:Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic ...
journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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