Documenta ophthalmologica. Advances in ophthalmology · 2026
Inner retinal cavitations in three cases of NR2E3-associated retinopathy.
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Naveen Prithvi, Boon Camiel J F, Padhy Srikanta Kumar
Аннотация
PURPOSE: To describe previously unrecognized inner retinal cavitations in patients with Enhanced S-cone syndrome (ESCS) carrying specific NR2E3 mutations, and to evaluate their structural characteristics using multimodal imaging.
METHODS: Three patients with molecularly confirmed ESCS, each harboring homozygous NR2E3 variants (c.290G > A [p.Arg97His] and c.229C > T [p.Arg77Trp]), were evaluated. Detailed clinical assessments included fundus examination, full-field electroretinography (ERG), and multimodal retinal imaging, including swept-source optical coherence tomography (SS-OCT), fundus autofluorescence (FAF), and red-free photography.
RESULTS: All patients exhibited classical ESCS functional features: nyctalopia, hyperopia with full-field ISCEV-standard ERGs demonstrating pathognomonic changes consistent with ESCS and additional S-cone ERGs of greater amplitude than standard light-adapted (LA 3.0) ERGs. Bilateral, perhaps oblong like, hypopigmented retinal cavitations were observed along the vascular arcades and nasal to the optic disc. SS-OCT localized these lesions primarily to the ganglion cell and inner plexiform layers, occasionally extending to the outer plexiform layer. Red-free imaging delineated cavitations more clearly than FAF. Hyperautofluorescent foci partially overlapped with the cavitations but did not match their shape.
CONCLUSIONS: In this case series, inner retinal cavitations were observed in NR2E3-associated enhanced S-cone syndrome and may represent a previously underrecognized structural feature. Larger studies are needed to establish the broader prevalence of this finding across NR2E3 genotypes.
METHODS: Three patients with molecularly confirmed ESCS, each harboring homozygous NR2E3 variants (c.290G > A [p.Arg97His] and c.229C > T [p.Arg77Trp]), were evaluated. Detailed clinical assessments included fundus examination, full-field electroretinography (ERG), and multimodal retinal imaging, including swept-source optical coherence tomography (SS-OCT), fundus autofluorescence (FAF), and red-free photography.
RESULTS: All patients exhibited classical ESCS functional features: nyctalopia, hyperopia with full-field ISCEV-standard ERGs demonstrating pathognomonic changes consistent with ESCS and additional S-cone ERGs of greater amplitude than standard light-adapted (LA 3.0) ERGs. Bilateral, perhaps oblong like, hypopigmented retinal cavitations were observed along the vascular arcades and nasal to the optic disc. SS-OCT localized these lesions primarily to the ganglion cell and inner plexiform layers, occasionally extending to the outer plexiform layer. Red-free imaging delineated cavitations more clearly than FAF. Hyperautofluorescent foci partially overlapped with the cavitations but did not match their shape.
CONCLUSIONS: In this case series, inner retinal cavitations were observed in NR2E3-associated enhanced S-cone syndrome and may represent a previously underrecognized structural feature. Larger studies are needed to establish the broader prevalence of this finding across NR2E3 genotypes.