ArticleDocumenta ophthalmologica. Advances in ophthalmology2026
Progressive cone dystrophy in PDE6C-associated achromatopsia with a likely pathogenic variant and a VUS.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeTo report the clinical phenotype, multimodal imaging findings, and electrophysiologic characteristics of a 62-year-old patient with achromatopsia harboring two heterozygous PDE6C (NM_006204.3) variants: a variant of uncertain significance, c.2248G > C (p.Asp750His), and a likely pathogenic variant, c.2304_2305delAA (p.Asp770Ter).
methodsThe patient underwent comprehensive ophthalmic evaluation, including best-corrected visual acuity (BCVA), slit-lamp examination, dilated fundus examination, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), and full-field electroretinography (ffERG) according to ISCEV standards. Genetic testing was performed using whole-exome sequencing (WES).
resultsBCVA was 20/300 in both eyes at the most recent visit. Ten months earlier, BCVA was 20/150 in the right eye and 20/100 in the left eye. Fundus examination demonstrated bilateral central macular atrophic lesions with corresponding autofluorescence abnormalities. SD-OCT revealed irregular attenuation and focal loss of the ellipsoid zone with relative preservation of the retinal pigment epithelium. ffERG showed severe cone dysfunction, characterized by markedly reduced light-adapted single-flash responses and near-extinguished 30 Hz flicker responses, with relatively preserved rod-mediated scotopic responses. Genetic testing identified two heterozygous PDE6C variants: a likely pathogenic frameshift variant (c.2304_2305delAA; p.Asp770Ter), predicted to result in premature truncation of the protein, and a missense variant (c.2248G > C; p.Asp750His) located in the catalytic phosphodiesterase domain, not previously reported, and currently classified as a variant of uncertain significance.
conclusionsThis case expands the phenotypic spectrum of PDE6C-associated retinal disease by describing a severe cone dysfunction phenotype with clinical features consistent with achromatopsia. In the context of an autosomal recessive condition, the presence of a likely pathogenic variant alongside a variant of uncertain significance, combined with a consistent clinical and electrophysiologic phenotype, supports a possible biallelic disease mechanism. These findings contribute to emerging genotype-phenotype correlations and may aid in interpreting rare PDE6C variants.
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