Ocular Manifestations of Congenital/Inherited Diseases

This girl was 8 years old when these photographs were taken. She had been referred by pediatric neurology with ataxia. When seen, the findings of ataxia, poor convergence, early head thrusting maneuvers, and relatively preserved motility, in conjunction with the conjunctival findings as seen in the photographs, confirmed the diagnosis of ataxia telangiectasia. She returned for follow-up at age 17. Her examination evolved such that she was 20/25-at distance OU, and the pupils were 8 mm OU, round, and reactive to light without relative afferent pupillary defect. The slit-lamp examination was remarkable only for the telangiectatic vessels, which had not significantly changed over the years. The ocular rotations demonstrated slow hypometric saccades, moving about 20 degrees in all directions in either eye. Pursuit was broken into microsteps in all planes. The pursuit was virtually full in the vertical plane. With her head unrestrained, she made the counterversive head-thrusting maneuvers as a strategy to drive her eyes into abduction or adduction. Oculocephalic rotations increased the horizontal range of motion to about 75% in any direction. Convergence was absent. On a Worth four-dot test, she had a right hyperflick and an esodeviation of 7 prism diopters in primary gaze. The fundus examination in the right eye showed a cup-to-disc ratio of 0.2 with normal nerve, macula, disc, vessel, and nerve fiber layer, the left eye perhaps had a trace of temporal pallor, although the nerve fiber layer was normal, and the nerve, macula, disc, vessel, and periphery were normal. Disease/Diagnosis: Ataxia Telangiectasia.