Positive angle kappa: a possible sign of aniridia.

[aniridia]

Aniridia is a panocular disorder with variable expressivity , caused by PAX 6 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 .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 .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 .T he phenotype of aniridia is variable . However , a positive angle kappa may be considered to be a frequent clinical feature of aniridia .

Diseases
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Diseases presenting "frequent clinical feature" symptom

aniridia

cutaneous mastocytosis

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