PMID: 18705622Aug 19, 2008Paper

Cortical visual impairment in hypomelanosis of Ito

Journal of Pediatric Ophthalmology and Strabismus
Andrew ScottPatrick Watts

Abstract

Hypomelanosis of Ito is a multisystem disorder that is thought to be due to chromosomal mosaicism. The authors report a case of cortical visual impairment in an infant diagnosed as having hypomelanosis of Ito. Cortical dysplasia was evident on magnetic resonance imaging and its presence in key areas of the visual pathway may explain the patient's cortical visual impairment.

References

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May 17, 2002·Seminars in Neonatology : SN·G N Dutton, L K Jacobson
Sep 15, 2005·Archives of Ophthalmology·Mira LimAnne B Fulton

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Citations

Aug 24, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·William B Dobyns, Ghayda M Mirzaa

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