Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature.
Affiliation
Ophthalmology Department, Our Lady's Hospital, Crumlin, Dublin, Ireland., maeveodoherty@gmail.comIssue Date
2012-02-01T10:24:52ZMeSH
AdolescentAdult
Child
Child, Preschool
Female
Humans
*Incontinentia Pigmenti/diagnosis/epidemiology/genetics
Infant
Infant, Newborn
Ireland/epidemiology
Male
Watchful Waiting
Young Adult
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Br J Ophthalmol. 2011 Jan;95(1):11-6. Epub 2010 Sep 9.Journal
The British journal of ophthalmologyDOI
10.1136/bjo.2009.164434PubMed ID
20829317Abstract
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
engISSN
1468-2079 (Electronic)0007-1161 (Linking)
ae974a485f413a2113503eed53cd6c53
10.1136/bjo.2009.164434
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