Macula as a Window to Diagnosis

A 4-year-old boy first born to consanguineous parents, presented with longstanding language delay and difficulty seeing objects, recurrent falls, and decline in social interaction with family members over the past year. During the next 12  months, he developed complete vision loss and became dependent for all activities of daily living. Physical examination revealed occipitofrontal circumference of 49 cm (0 to -1 z score, World Health Organization), pendular nystagmus, head tilt to the right and titubation, and bull's eye maculopat hy on funduscopic examination (Figure, A).
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Rediscovering the Physical Exam Source Type: research