Quiz: Poor Vision and Nystagmus

A 24-year-old male is referred for poor vision and nystagmus. You obtain a medical history that reveals the patient also has learning difficulties. Physical examination is notable for truncal obesity and polydactyly. Fundus exam shows a “retinitis pigmentosa” like fundus but with macular involvement. What could be happening?

11 thoughts on “Quiz: Poor Vision and Nystagmus”

  1. Thanks for the interesting case presentations. We are able to learn on differential diagnosis also. Post more quiz on anterior segments also.

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