Case report describes vision loss and hyperreflective ganglion cell band in retinal dystrophy due to NCL3 mutation, indicating possible inner retinal changes.
Purpose: To report the finding of a hyperreflective ganglion cell layer band (HGB) in a genetically confirmed case of isolated NCL3-associated retinal degeneration. Methods: Multimodal imaging, including ultra-widefield fundus photography and optical coherence tomography (OCT) was used to assess findings. Results: A 21-year-old male with progressive vision loss since age 6 presented with light perception vision, nyctalopia, and photophobia. Genetic testing revealed compound heterozygous NCL3 variants (Glu295Lys and a splice-site mutation), consistent with NCL3-associated retinal dystrophy without systemic neurologic features. Fundus exam showed diffuse retinal pigment epithelial (RPE) mottling, arteriolar narrowing, and intraretinal pigment. Spectral domain optical coherence tomography (SD-OCT) demonstrated outer retinal atrophy, and a continuous hyperreflective band within the ganglion cell layer. Conclusion: This report highlights a previously undescribed finding of a hyperreflective ganglion cell layer band in isolated NCL3-associated retinopathy, further expanding the spectrum of structural inner retinal changes seen in this condition and underscoring the role of Müller cell and ganglion cell involvement in the pathogenesis of NCL3-linked retinal degeneration.
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Quarta et al. (2025) studied this question.
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