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Published on: September 3, 2020
Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction
Ana Maria Cunha1, Jorge Breda2, Amândio Rocha-Sousa2,3
1Department of Ophthalmology, Centro Hospitalar Universitário de São João, Avenida Prof. Hernâni Monteiro, 4202 - 451, Porto, Portugal. ana.cunha.18@gmail.com.
Insights
This study details a child with mild Incontinentia Pigmenti (IP), showing unique retinal changes on OCT scans and an unusual electroretinogram (ERG) indicating inner retinal dysfunction.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Imaging
Background:
- Incontinentia Pigmenti (IP) is a rare genetic disorder.
- Typically affects the peripheral retina, but macular involvement can occur.
- Ocular manifestations require detailed investigation.
Observation:
- A 7-year-old female with a mild phenotype of IP presented with reduced visual acuity.
- Ophthalmic examination revealed normal biomicroscopy, intraocular pressure, and fundoscopy.
- Electronegative dark-adapted 3.0 electroretinogram (ERG) indicated inner retinal dysfunction.
Findings:
- Spectral-Domain Optical Coherence Tomography (SD-OCT) showed outer plexiform layer irregularities.
- Optical Coherence Tomography Angiography (OCT-A) revealed reduced superficial capillary plexus flow in parafoveal and perifoveal regions.
- This case presents the first reported electronegative ERG in an Incontinentia Pigmenti patient.
Implications:
- Highlights potential macular involvement in IP, extending beyond peripheral retinal changes.
- Suggests SD-OCT and OCT-A are valuable tools for detecting subtle retinal abnormalities in IP.
- The electronegative ERG may serve as an important diagnostic marker for inner retinal dysfunction in IP.
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.
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