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

Hdl Handle:
http://hdl.handle.net/10147/207432
Title:
Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature.
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
Citation:
Br J Ophthalmol. 2011 Jan;95(1):11-6. Epub 2010 Sep 9.
Journal:
The British journal of ophthalmology
Issue Date:
1-Feb-2012
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
MeSH:
Adolescent; Adult; Child; Child, Preschool; Female; Humans; *Incontinentia Pigmenti/diagnosis/epidemiology/genetics; Infant; Infant, Newborn; Ireland/epidemiology; Male; Watchful Waiting; Young Adult
ISSN:
1468-2079 (Electronic); 0007-1161 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorO'Doherty, Men_GB
dc.contributor.authorMc Creery, Ken_GB
dc.contributor.authorGreen, A Jen_GB
dc.contributor.authorTuwir, Ien_GB
dc.contributor.authorBrosnahan, Den_GB
dc.date.accessioned2012-02-01T10:24:52Z-
dc.date.available2012-02-01T10:24:52Z-
dc.date.issued2012-02-01T10:24:52Z-
dc.identifier.citationBr J Ophthalmol. 2011 Jan;95(1):11-6. Epub 2010 Sep 9.en_GB
dc.identifier.issn1468-2079 (Electronic)en_GB
dc.identifier.issn0007-1161 (Linking)en_GB
dc.identifier.pmid20829317en_GB
dc.identifier.doi10.1136/bjo.2009.164434en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207432-
dc.description.abstractAIM: 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.en_GB
dc.language.isoengen_GB
dc.subject.meshAdolescenten_GB
dc.subject.meshAdulten_GB
dc.subject.meshChilden_GB
dc.subject.meshChild, Preschoolen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshHumansen_GB
dc.subject.mesh*Incontinentia Pigmenti/diagnosis/epidemiology/geneticsen_GB
dc.subject.meshInfanten_GB
dc.subject.meshInfant, Newbornen_GB
dc.subject.meshIreland/epidemiologyen_GB
dc.subject.meshMaleen_GB
dc.subject.meshWatchful Waitingen_GB
dc.subject.meshYoung Adulten_GB
dc.titleIncontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature.en_GB
dc.contributor.departmentOphthalmology Department, Our Lady's Hospital, Crumlin, Dublin, Ireland., maeveodoherty@gmail.comen_GB
dc.identifier.journalThe British journal of ophthalmologyen_GB
dc.description.provinceLeinster-

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