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A 5-month-old infant of consanguineous parents (first cousins) presented with acute respiratory illness, hepatosplenomegaly, roving nystagmus and vision impairment. Pale optic nerves with little evidence of normal function (by visual evoked responses), good retinal responses and no features of retinal dystrophy (by electroretinography), loss of corpus callosum and atrophy of anterior visual pathway (by MRI) out of proportion for the optic …
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.