Inner retinal cavitations in three cases of NR2E3-associated retinopathy.
Prithvi Naveen, Camiel J F Boon, Srikanta Kumar Padhy
✦ AI-curated · Sources linked
Case in brief
Three patients with Enhanced S-cone syndrome (ESCS) and confirmed NR2E3 mutations presented with classical symptoms including nyctalopia and hyperopia. Multimodal imaging revealed bilateral hypopigmented inner retinal cavitations primarily located in the ganglion cell and inner plexiform layers. These findings were distinct from hyperautofluorescent foci, suggesting a unique structural characteristic of the condition.
What made this case unusual
The presence of inner retinal cavitations in patients with NR2E3-associated ESCS is an atypical finding that had not been previously recognized.
Diagnostic / clinical pearl
Clinicians should consider the possibility of inner retinal cavitations in patients with NR2E3-associated Enhanced S-cone syndrome, as they may represent an important structural feature.
Why it matters
Recognizing these cavitations could enhance the understanding of the structural manifestations of NR2E3 mutations and improve diagnostic accuracy in similar cases.