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    Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature.

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    Authors
    O'Doherty, M
    Mc Creery, K
    Green, A J
    Tuwir, I
    Brosnahan, D
    Affiliation
    Ophthalmology Department, Our Lady's Hospital, Crumlin, Dublin, Ireland., maeveodoherty@gmail.com
    Issue Date
    2012-02-01T10:24:52Z
    MeSH
    Adolescent
    Adult
    Child
    Child, Preschool
    Female
    Humans
    *Incontinentia Pigmenti/diagnosis/epidemiology/genetics
    Infant
    Infant, Newborn
    Ireland/epidemiology
    Male
    Watchful Waiting
    Young Adult
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    Metadata
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    Citation
    Br J Ophthalmol. 2011 Jan;95(1):11-6. Epub 2010 Sep 9.
    Journal
    The British journal of ophthalmology
    URI
    http://hdl.handle.net/10147/207432
    DOI
    10.1136/bjo.2009.164434
    PubMed ID
    20829317
    Abstract
    AIM: The aims of this study were to make an inventory of the disease in Ireland, to acquire better knowledge of the relationship between genetic makeup and phenotypic ocular presentation and, finally, through literature review and personal experience, to establish clear guidelines on best practice in the management of children with this rare condition both in terms of screening and follow-up. METHODS: All patients who attended the dermatology and genetic clinic in Our Lady's Hospital for Sick Children, Crumlin, with incontinentia pigmenti (IP) were contacted and invited to attend the eye clinic for ocular assessment. Children who were already attending the ophthalmic services before commencement of the study had their charts reviewed for assessment. RESULTS: 11 of 19 patients agreed to attend the clinic for ocular assessment. Of these patients, nine had genetic testing. The mean age of the patients at the examination was 8 years (3 months to 29 years). In 10 patients, IP was the result of a spontaneous mutation, whereas the condition was inherited from an affected mother in one patient. Of the 11 patients with IP, 5 have visually significant ocular findings (47%). We describe the case history of four of these children briefly to outline the severity of this condition. CONCLUSION: Our patients had a significant percentage of ocular abnormalities (47%). We have outlined an examination schedule for patients with and without retinal pathology and recommend fluorescein angiography in patients with retinal pathology to fully determine the extent of ischaemia. Like other studies, early treatment with peripheral retinal photocoagulation to reduce the risk of retinal detachment is recommended in this study.
    Language
    eng
    ISSN
    1468-2079 (Electronic)
    0007-1161 (Linking)
    ae974a485f413a2113503eed53cd6c53
    10.1136/bjo.2009.164434
    Scopus Count
    Collections
    Our Lady's Children's Hospital Crumlin

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