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CASE REPORT
Year : 2022  |  Volume : 15  |  Issue : 3  |  Page : 363-365

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


1 Department of Ophthalmology, University College of Medical Sciences and Associated GTB Hospital, University of Delhi, New Delhi, India
2 Department of Ophthalmology, Lady Hardinge Medical College and Associated Hospitals, University of Delhi, Dr. RML Hospital and ABVIMS, New Delhi, India

Correspondence Address:
Zia Chaudhuri
Department of Ophthalmology, Lady Hardinge Medical College and Associated Hospitals, University of Delhi, Dr. RML Hospital and ABVIMS, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ojo.ojo_194_21

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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.


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