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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 [1]; X-linked [2]
- associated with defects in OCRL are the cause of
Clinical manifestations:
- hydrophthalmia
- cataract
- mental retardation
- vitamin D-resistant rickets
- aminoaciduria
- ocular abnormalities include:
a) cataract
b) glaucoma
c) microphthalmos
d) 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
Special laboratory:
- cataract in carriers may be detected by slit-lamp examination
Related
Lowe's oculocerebral syndrome protein; inositol polyphosphate 5-phosphatase OCRL-1 (OCRL, INPP5F, OCRL1)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 309000
References
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1258
- OMIM :accession 309000