Lowe's oculocerebrorenal syndrome

Pathology

• multisystem disorder affecting eyes, nervous system, & kidney
• reduced ammonia production by the kidney
• renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, & phosphate

Genetics

• linked to chromosome 15q21-22; X-linked
• associated with defects in OCRL are the cause of

Clinical manifestations

• hydrophthalmia
• cataract
• mental retardation
• vitamin D-resistant rickets
• aminoaciduria
• ocular abnormalities include:
  • cataract
  • glaucoma
  • microphthalmos
  • decreased visual acuity
• developmental delay,
• hypotonia
• behavior abnormalities
• areflexia are also present. renal
• musculoskeletal abnormalities including joint hypermobility, dislocated hips, & fractures may develop as consequences of renal tubular acidosis & hypophosphatemia
• cataract is the only significant manifestation in carriers

Diagnostic procedures

• cataract in carriers may be detected by slit-lamp examination

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• Lowe's oculocerebral syndrome protein; inositol polyphosphate 5-phosphatase OCRL-1 (OCRL, INPP5F, OCRL1)

Database

• OMIM: https://mirror.omim.org/entry/309000