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Homocystinuria (HC) and Neurofibromatosis Type-1 (NF-1): An Unusual Presentation in a Child.

Homocystinuria (HC) and neurofibromatosis type-1 (NF-1) are two genetically determined conditions with variable clinical manifestations. HC is a neurocutaneous autosomal recessive condition while NF-1 is an autosomal dominant phacomatosis. Both HC and NF-1 present with distinct systemic as well as ocular manifestations; however, vascular complications can occur in both the conditions. A9-year boy diagnosed case of HC along with other two siblings is reported here. He was referred by his paediatrician with decreased vision secondary to ectopia lentis. When examined in detail, he turned out to be suffering from both HC and NF-1, based on raised serum homocysteine levels, biopsy report of NF-1 and presence of café au laitspots and ectopia lentisclinically. Lens anomaly was corrected surgically while he was given oral vitamin B6 for HC to which he responded well.