Pathology of the organ of vision in orphan Lowe syndrome in children

Lowe syndrome (ORPHA 534) is an orphan X-linked recessive disease characterized by pathology of the organ of vision, kidneys and central nervous system, affecting only men. Lowe syndrome is caused by mutations in the OCRL gene, mapped on chromosome Xq26.1. The OCRL gene encodes phosphatidylinositol 4,5-bisphosphate 5-phosphatase. Due to a gene mutation, the metabolism of inositol phosphates is disrupted. In various tissues and organs, disruption of these processes leads to the development of various pathological processes. Pathology of the organ of vision in Lowe’s syndrome in children is often characterized by bilateral congenital cataracts and glaucoma. Less common are corneal scars without previous trauma. The renal phenotype of Lowe’s syndrome in children is caused by generalized proximal tubular tubulopathy and is characterized by Fanconi syndrome (glucosuria, aminoaciduria, calciuria, phosphaturia, hypophosphatemia, rickets, renal tubular acidosis type 2). Pathology of the central nervous system manifests itself in children from birth with generalized muscle hypotonia with decreased tendon reflexes; lag in psychomotor development and mental retardation are more often detected, less often – normal intelligence. Molecular genetic research makes it possible to identify a specific variant of the OCRL gene mutation. According to the research results, features of the ophthalmological phenotype were noted in 3 children from unrelated families with orphan Lowe syndrome, due to a mutation in the OCRL1 gene. In patient No. 1, a 15-year-old boy, the ophthalmological phenotype was characterized by congenital cataracts, microphthalmos, and rotatory nystagmus of both eyes. Patient No. 2, a 14-year-old boy, was diagnosed with congenital cataracts, a cataract of the left eye, partial atrophy of the optic nerves, and microphthalmos of both eyes. In patient No. 3, a boy 1 year 9 months old, the ophthalmological pathology was characterized by congenital bilateral cataracts.