Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms

Incontinentia pigmenti (IP) is a rare neurocutaneous syndrome of X-linked dominant inheritance (1:40000 births in the Caucasian population) which is usually lethal in males. It commonly presents with skin, central nervous system, and dental anomalies. Ophthalmic associations of IP include intra-ocul...

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Bibliographic Details
Published inOman journal of ophthalmology Vol. 15; no. 3; pp. 363 - 365
Main Authors Madan, Siddharth, Chaudhuri, Zia
Format Journal Article
LanguageEnglish
Published India Wolters Kluwer India Pvt. Ltd 01.09.2022
Medknow Publications & Media Pvt. Ltd
Wolters Kluwer - Medknow
Wolters Kluwer Medknow Publications
Subjects
Case Report
Case reports
Children & youth
Eye diseases
incontinentia pigmenti
infantile spasms
Ophthalmology
persistent hyperplastic primary vitreous
west syndrome
persistent hyperplastic primary vitreous
Incontinentia pigmenti
west syndrome
infantile spasms
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Summary:Incontinentia pigmenti (IP) is a rare neurocutaneous syndrome of X-linked dominant inheritance (1:40000 births in the Caucasian population) which is usually lethal in males. It commonly presents with skin, central nervous system, and dental anomalies. Ophthalmic associations of IP include intra-ocular anomalies such as leukocoria, megalocornea, corneal edema, band keratopathy, bullous keratopathy, iridocorneal attachments, macular capillary dropout, peripheral arteriovenous shunts, retinal neovascularization, vitreous hemorrhage, preretinal fibrosis, traction retinal detachment as well as strabismus. We report an 18-month-old developmentally delayed female child with diagnosed IP and infantile spasms conforming to the west syndrome triad, who presented with left eye microphthalmia and persistent hyperplastic primary vitreous and discuss this rare ophthalmic presentation.
ISSN:0974-620X
0974-7842
DOI:10.4103/ojo.ojo_194_21