View abstract

This abstract is assigned to session AOB Poster session 2 - Inflammatory pathology – Anterior segment – Ophthalmogenetics - Miscellaneous

Title	Unilateral buphthalmia as presenting ocular manifestation of incontinentia pigmenti
Abstract Nr.	2035

Purpose	To report a case of incontinentia pigmenti (IP) in an infant with unilateral buphthalmia at initial presentation.
Methods	Review of patient records.
Results	A 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.
Conclusion	Ocular 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.
Conflict of interest	No

Authors 1

Last name	SMETS
Initials	RME
Department	Antwerp University Hospital, Department of Ophthalmology
City	Edegem

Authors 2

Last name	Meuwissen
Initials	M
Department	Antwerp University Hospital, Department of Medical Genetics
City	Edegem

Authors 3

Last name	De Veuster
Initials	I
Department	Antwerp University Hospital, Department of Ophthalmology
City	Edegem