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Deze abstract is toegekend aan sessie AOB Poster session 2 - Inflammatory pathology – Anterior segment – Ophthalmogenetics - Miscellaneous
TitelUnilateral buphthalmia as presenting ocular manifestation of incontinentia pigmenti
Abstract Nr.2035
DoelTo report a case of incontinentia pigmenti (IP) in an infant with unilateral buphthalmia at initial presentation.
MethodesReview of patient records.
ResultatenA neonate girl with cutaneous lesions, born after normal pregnancy, was diagnosed with IP (exon 4-10 deletion in NEMO gene). Since birth buphthalmia and heterochromia of the left eye had been noticed. At the age of 2 months the left eye was diagnosed with secondary glaucoma due to fibrovascular proliferation and total traction retinal detachment: topical timolol was initiated. In the right eye the temporal and superior peripheral retina were avascular on fluorescein angiography. During follow-up pigmentary abnormalities appeared in the temporal periphery of the right eye. The heterochromia in the left eye regressed and the intraocualr pressure normalized.
ConclusieOcular manifestions in IP are variable. Asymmetric retinal disease between eyes is common, as is the occurrence of unilateral microcornea and microphthalmia. However, buphthalmia is rarely reported.
In IP most ocular complications occur in early childhood. Monthly examinations for the first 3-4 months of life, then at 3-months interval for 1 year, and every 6 months op to 3 years have been recommended.
BelangenverstrengelingNee
Auteur 1
NaamSMETS
InitialenRME
InstituutAntwerp University Hospital, Department of Ophthalmology
StadEdegem
Auteur 2
NaamMeuwissen
InitialenM
InstituutAntwerp University Hospital, Department of Medical Genetics
StadEdegem
Auteur 3
NaamDe Veuster
InitialenI
InstituutAntwerp University Hospital, Department of Ophthalmology
StadEdegem
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