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?

12 thoughts on “Quiz: Poor Vision and Nystagmus”

    • Genetic counseling protocol presented wonderfully with step by step quiz format. Please do share such interesting format for many more conditions!

  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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