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agenesis of the corpus callosum
A number of ocular features have been described in this disorder, including telecanthus, hypertelorism, and iris hypoplasia. Patients may have marked iris transillumination. Myopia is commonly present and retinal detachments are a risk. Several patients had iris colobomas. Cataracts, small optic nerves, and macular hypoplasia have been reported as well. The lid fissures usually slant downward.
The facial dysmorphology, in addition to the periocular malformations, includes a prominent brow or frontal bossing, posterior rotation of the ears, a flat nasal bridge and a short nose. Sensorineural hearing loss is universal and at least some patients have complete or partial agenesis of the corpus callosum, and an enlarged anterior fontanel. Diaphragmatic and umbilical hernias often occur together. Low-molecular-weight proteinuria in the absence of aminoaciduria is a frequent feature. Developmental delays are often seen but occasional patients have normal intellect. Rare patients have seizures.
This is a rare autosomal recessive disorder caused by homozygous mutations in the LRP2 (low-density lipoprotein receptor-related protein 2 or megalin) gene located at 2q24-q31. Some patients have an ocular phenotype resembling the Stickler syndrome (609508).
Treatment is focused on specific manifestations such as cataract and retinal detachment surgery. Patients need to be monitored throughout life for retinal disease. Omphaloceles and diaphragmatic hernias need to be repaired. Hearing aids may be beneficial.