“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, WHO), pendular nystagmus, head tilt to the right and titubation, and bull ’s eye maculopathy on funduscopic examination (Figure, A).

Source: The Journal of Pediatrics - December 14, 2020 Category: Pediatrics Authors: T.A. Sangeeth, Hansashree Padmanabha, Rashmi Santhosh-Kumar, Sadanandavalli R. Chandra, Debjyoti Dhar, Pooja Mailankody, Vani Santosh Tags: Rediscovering the Physical Exam Source Type: research