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

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.