Intended for healthcare professionals

Endgames Spot Diagnosis

Poor vision in a patient with white hair and pale skin

BMJ 2016; 352 doi: (Published 13 January 2016) Cite this as: BMJ 2016;352:i24
  1. Koushik Tripathy, ophthalmologist1,
  2. Yog Raj Sharma, ophthalmologist1
  1. 1Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences (AIIMS), New Delhi, India 110029
  1. Correspondence to: K Tripathy koushiktripathy{at}

A 26 year old man presented with poor vision in both eyes since childhood. He had white hair and pale skin. He had a best corrected vision of 5/60 in each eye and horizontal nystagmus. What is the diagnosis when the photos of the anterior segment (A) and fundus …

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