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The Pupil in Dominant Optic Atrophy

¹ From the National Hospital for Neurology and Neurosurgery and ² Moorfields Eye Hospital, London, United Kingdom; and the ³ College of Optometry, Nova Southeastern University, Fort Lauderdale, Florida.

PURPOSE. To compare visual and pupil afferent function in dominant optic atrophy (DOA).

METHODS. Patients with DOA who belonged to families showing evidence of linkage to the locus on chromosome 3q28-qter were recruited from the Moorfields Genetic Register. Patients and healthy control subjects underwent visual and pupil perimetry using a modified automated perimeter (Octopus 1-2-3; Interzeag, Schlieren, Switzerland). Five stimulus locations were tested: fixation, and at 17° eccentricity along the 45° and 135° meridians in all four quadrants. The visual deficit (difference in decibels between the patient’s luminance threshold and that in age-matched healthy control subjects) was compared directly with the pupil deficit (difference in decibels between the stimulus intensity giving the patient’s pupil response and that giving an equivalent pupil response in healthy control subjects) at each test location.

RESULTS. Visual deficits and pupil afferent deficits were found at all five locations. The visual deficits were significantly greater than the pupil deficits at the four peripheral locations (median difference = 6.3 dB, P < 0.001). At fixation, the difference was not significant (median difference = 2.3 dB, P = 0.407).

CONCLUSIONS. Pupil function appears less affected than visual function at four of five locations tested. This result provides evidence that the retinotectal fibers serving the pupil light reflex are less susceptible to damage from the OPA1 genetic defect than the retinogeniculate fibers serving vision.

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