Ocular Manifestations of the Oculocerebrorenal Syndrome of Lowe

Mutations in the OCRL1 gene result in Lowe Syndrome (LS) or the oculocerebrorenal syndrome of Lowe, a rare X-linked recessive disorder characterized by ocular, neurologic, and renal abnormalities occurring predominantly in males. Its systemic manifestations include Fanconi-type renal tubular dysfunction, hypotonia, and intellectual disability. All individuals with LS manifest ocular involvement, including congenital cataracts as the most common ocular abnormality, along with glaucoma and corneal keloids as the most common causes of blindness. LS is diagnosed based on reduced activity of the OCRL1 enzyme demonstrated in cultured skin fibroblasts or genetic testing confirming the presence of an OCRL pathogenic variant. However, ocular abnormalities are often the initial symptoms that assist in diagnosis. Early surgical removal of congenital cataracts, which develops in all patients with LS, is recommended to improve visual stimulation and development. Glaucoma is reported in approximately half of males, which is difficult to control pharmacologically and generally requires surgical intervention. Corrected visual acuity rarely exceeds 20/100, and optical correction with spectacles is recommended due to the associated risk of corneal keloid formation with contact lenses, which may further reduce visual prognosis.