Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction
| Autor: | Amândio Rocha-Sousa, Jorge Breda, Fernando Falcão-Reis, Renato Santos-Silva, Ana Maria Cunha |
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| Rok vydání: | 2020 |
| Předmět: |
Intraocular pressure
medicine.medical_specialty genetic structures Visual Acuity Outer plexiform layer 03 medical and health sciences 0302 clinical medicine Optical coherence tomography Retinal Diseases Physiology (medical) Ophthalmology medicine Electroretinography Humans Incontinentia Pigmenti Fluorescein Angiography Child medicine.diagnostic_test business.industry Electronegative electroretinogram Incontinentia pigmenti medicine.disease eye diseases Sensory Systems Retinal dysfunction medicine.anatomical_structure Phenotype 030221 ophthalmology & optometry Female sense organs business Erg 030217 neurology & neurosurgery Tomography Optical Coherence |
| Zdroj: | Documenta ophthalmologica. Advances in ophthalmology. 143(1) |
| ISSN: | 1573-2622 |
| Popis: | 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. 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. 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. |
| Databáze: | OpenAIRE |
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