December 2002
Volume 43, Issue 13
ARVO Annual Meeting Abstract  |   December 2002
Hypomelanosis of Ito - an Ophthalmologist's Dilemma
Author Affiliations & Notes
  • JE Marr
    Paediatric Ophthalmology
    Birmingham Children's Hospital Birmingham United Kingdom
  • C Moss
    Birmingham Children's Hospital Birmingham United Kingdom
  • HE Willshaw
    Paediatric Ophthalmology
    Birmingham Children's Hospital Birmingham United Kingdom
  • Footnotes
    Commercial Relationships   J.E. Marr, None; C. Moss, None; H.E. Willshaw, None.
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 1111. doi:
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      JE Marr, C Moss, HE Willshaw; Hypomelanosis of Ito - an Ophthalmologist's Dilemma . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1111.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract: : Purpose: The term "Hypomelanosis of Ito" (HI) was first used by Ito in 1952 to describe individuals with skin hypopigmentation along the lines of Blashko. Later reports described a neuroectodermal syndrome with a wide spectrum of clinical manifestations comprising pigmentary anomalies, neurological defects and structural malformations. Studies now indicate that HI is a neurocutaneuos phenotype that reflects different chromosomal mosaicisms. We report our experience with four patients showing the HI phenotype, including their cytogentic studies and some unique ophthalmic features. Methods: A retrospective case-note review of children with HI and ocular complications was undertaken. Keratinocyte cytogenetic studies were performed in all cases. Results: The four case reports highlight the spectrum of ocular involvement (congenital cataracts, congenital glaucoma, irido-trabeculo dysgenesis, delayed visual maturation, retinal pigmentary changes and strabismus) found in the series. Chromosomal mosaicism was demonstrated in two cases. In one case there was repeated failure of the keratinocyte culture taken from the hypo-pigmented skin, despite success with that taken from the normal, pigmented skin (which showed a normal female karyotype). In the final case chromosomal mosaicism was not demonstrated. The cases also serve to illustrate the diagnostic dilemmas that occurred during their management Conclusion: A wide range of ocular abnormalities is associated with the HI phenotype, reflecting the diversity of the chromosomal abnormalities. These children add to the range of abnormalities identified in HI and highlight the diagnostic challenge posed by non-albinotic disorders of pigment.

Keywords: 420 genetics • 476 molecular biology 

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