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Incontinentia pigmenti with pseudo-retinopathy of prematurity in a Filipino female: a case study

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Session Details

Session Title: Presented Poster Session: Posterior Segment

Venue: Poster Village: Pod 3

First Author: : C.Samaniego PHILIPPINES

Co Author(s): :    M. Arroyo   P. Villa           

Abstract Details

Purpose:

To describe the pathophysiology, clinical manifestations and management of the ocular sequelae of Incontinentia Pigmenti (IP), as illustrated by a case of IP with retinal disease in a Filipino neonate.

Setting:

The Medical City, Pasig, Metro Manila, Philippines

Methods:

This is a case report on IP in a Filipino female newborn with findings of peripheral retinal ischemia and neovascularization. Both PubMed and local databases were used to review the current literature on IP and its associated ocular anomalies. Data was then correlated to the patient's case in order to describe the epidemiology, pathophysiology, clinical manifestations and management of the ocular abnormalities in IP.

Results:

IP is an X-linked genodermatosis with manifestations in other tissues of neuroectodermal origin such as the central nervous system, teeth, dermal appendages and eyes. A live, term female was born via normal spontaneous delivery with no neonatal oxygen requirement. Cutaneous lesions evident at birth led to the diagnosis of IP. Fundus findings included initial intraretinal hemorrhages with eventual development of a peripheral ridge-like formation similar to that seen in stage 3 at zone II of retinopathy of prematurity (ROP). The patient underwent prompt prophylactic laser ablation, which resulted in resolution of neovascularization on the ridge.

Conclusions:

Ocular manifestations of IP occur in about 35% of affected individuals. This is the first reported case of IP presenting with ocular anomalies in the Philippines. Early detection of ocular disease in patients with IP is essential. A case of IP is presented with pseudo-ROP findings of stage 3 zone II, which can be associated with a risk of retinal detachment without intervention. The IKBKG gene mutation in IP is associated with both retinal disease and mental retardation; thus, individuals with IP and ocular symptoms must also be monitored for neurologic sequelae.

Financial Disclosure:

NONE

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