Lens fringe in homocystinuria.

Homocystinuria in Adult Siblings

Homocystinuria, an inborn error of amino acid metabolism, is a rare disorder. Here, we are reporting homocystinuria in two adult siblings. The elder brother had seizures, mental retardation, marfanoid habitus and osteoporosis with multiple pathological fractures of the bones and he was operated for a dislocated lens; the younger sister had mental retardation, osteoporosis and untreated dislocat...

Supero-nasal Subluxation of Lens in Homocystinuria – A Rare Case Report

Homocystinuria: a rare cause of megaloblastic anemia.

We present an eight-year-old boy who initially presented to us with megaloblastic anemia and subsequently developed dislocation of lens. The child had a positive sodium nitroprusside test and homocystinuria. He was diagnosed to have homocystinuria type 1. His anemia improved on oral pyridoxine and folic acid therapy. Homocystinuria should be remembered as a cause of megaloblastic anemia.

Anterior dislocation of the lens in homocystinuria.

Homocystinuria is of particular interest to ophthalmologists, associated as it is with sub-luxated or dislocated lenses in over go per cent. of cases. It was first described by Carson and Neill (I962) and well over I00 cases have since been reported. The subject has recently been reviewed by Cusworth and Dent (I969) and by FranSois (1970). It is our purpose to discuss the management of anterior...

Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report

INTRODUCTION Non-heritable factors may have an influence on the clinical expression of monogenic inherited metabolic diseases. CASE PRESENTATION This is a case report of a man whose mother had been diagnosed late in childhood with pyridoxine responsive homocystinuria with lens dislocation and neurodevelopmental delay. These severe complications were not observed in her son who was pyridoxine ...