Optic nerve aplasia in an infant with congenital hypopituitarism and posterior pituitary ectopia.

type transthyretin as well as other fibrillar proteins. To our knowledge, this is the first case report of vitreoretinal amyloidosis in the absence of transthyretin mutations. In addition, no signs of systemic amyloidosis suggestive of FAP were evident 7 years after the patient’s initial presentation, although we cannot exclude the possibility of a subclinical level of amyloid deposition in other tissues. These findings raise the possibility that isolated vitreoretinal amyloidosis may represent a disorder separate from FAP. We conclude that vitreoretinal amyloidosis encompasses a more heterogeneous group of disorders than has been previously described.