Literature DB >> 33582953

Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction.

Ana Maria Cunha1, Jorge Breda2, Amândio Rocha-Sousa2,3, Fernando Falcão-Reis2,3, Renato Santos-Silva2,3.   

Abstract

PURPOSE: To describe a case of a child with mild phenotype of Incontinentia Pigmenti (IP), with changes in Spectral-Domain Optical Coherence Tomography (SD-OCT) and Optical Coherence Tomography Angiography (OCT-A) and an electronegative dark-adapted (DA) 3.0 electroretinogram (ERG), suggestive of inner retinal dysfunction. CASE REPORT: We described a 7-year-old female child with IP. Her best corrected acuity was 8/10 in the right eye and 6/10 in the left eye. Biomicroscopy, intraocular pressure and fundoscopy were normal. The electroretinography findings showed an electronegative DA 3.0 ERG with a normal a-wave but a b-wave that did not elevate above baseline. SD-OCT identified irregularities in the outer plexiform layer in both eyes, and OCT-A assessment revealed at the superficial capillary plexus, areas of decrease in the flow in parafoveal and perifoveal regions.
CONCLUSION: Classically, IP affects the peripheral retina; however, vascular and structural changes in macula can occur as well. To our knowledge, we report the first electronegative electroretinogram in a patient with IP.

Entities:  

Keywords:  Electroretinography; Incontinentia Pigmenti; Inner retinal dysfunction; Multimodal retinal imaging

Mesh:

Year:  2021        PMID: 33582953     DOI: 10.1007/s10633-021-09824-0

Source DB:  PubMed          Journal:  Doc Ophthalmol        ISSN: 0012-4486            Impact factor:   2.379


  1 in total

1.  The blinding mechanisms of incontinentia pigmenti.

Authors:  M F Goldberg
Journal:  Trans Am Ophthalmol Soc       Date:  1994
  1 in total

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