Oculocerebrorenal Dystrophy (Lowe Syndrome)

Oculocerebrorenal Dystrophy (Lowe Syndrome)

It isan infrequent X-linked receding illness considered by congenital cataracts, mental retardation,hypotonic and areflexia proximal tubular acidosis, aminoaciduria, phosphaturia, and low-molecular-weight proteinuria.

Symptoms

Boys with Lowe condition are born with cascades in both eyes (the mark of the sickness). Glaucoma is appeared in about 50% of the patients with Lowe condition, though typically not at birth.

Diagnosis

Size of enzyme action in refined fibroblasts is the analytic test.Imaging Studies Brain MRI may prove white matter irregularities, chiefly in the periventricular area.

Treatment

Cryptorchidism may recover with hormonal therapy.