The American orthoptic journal · 2012
Positive angle kappa: a possible sign of aniridia.
Сравнительное исследованиеСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Merrill Kimberly S, Summers C Gail
Аннотация
INTRODUCTION AND PURPOSE: Aniridia is a panocular disorder with variable expressivity, caused by PAX6 mutations. Foveal hypoplasia and nystagmus occur in both aniridia and albinism. Individuals with albinism have a moderately positive angle kappa. This study evaluates the angle kappa in individuals with aniridia.
PATIENTS AND METHOD: We performed a retrospective chart review of recorded angle kappa for individuals with aniridia. In addition, we prospectively examined the monocular corneal light reflex in each eye of patients with congenital aniridia and central fixation. We recorded other ocular characteristics and the results of gene testing. Patients with eccentric fixation or corneal surgery were excluded, as were patients with retinal abnormalities that might have influenced the angle kappa.
RESULTS: We included sixteen individuals with congenital aniridia and found that all had a positive angle kappa. Two patients underwent pattern visual evoked potential (VEP) testing with monocular stimulation and were found to have a reversal of polarity, indicating misrouting of the retino-striate fibers.
CONCLUSION: The phenotype of aniridia is variable. However, a positive angle kappa may be considered to be a frequent clinical feature of aniridia.
PATIENTS AND METHOD: We performed a retrospective chart review of recorded angle kappa for individuals with aniridia. In addition, we prospectively examined the monocular corneal light reflex in each eye of patients with congenital aniridia and central fixation. We recorded other ocular characteristics and the results of gene testing. Patients with eccentric fixation or corneal surgery were excluded, as were patients with retinal abnormalities that might have influenced the angle kappa.
RESULTS: We included sixteen individuals with congenital aniridia and found that all had a positive angle kappa. Two patients underwent pattern visual evoked potential (VEP) testing with monocular stimulation and were found to have a reversal of polarity, indicating misrouting of the retino-striate fibers.
CONCLUSION: The phenotype of aniridia is variable. However, a positive angle kappa may be considered to be a frequent clinical feature of aniridia.
Предметные рубрики MeSH
AdolescentAdultAniridiaChildChild, PreschoolDiagnosis, DifferentialDiagnostic Techniques, OphthalmologicalEvoked Potentials, VisualEye ProteinsFemaleFixation, OcularFollow-Up StudiesHomeodomain ProteinsHumansInfantMaleMutationPAX6 Transcription FactorPaired Box Transcription FactorsPhenotypeProspective StudiesRepressor ProteinsReproducibility of ResultsYoung Adult