ArticleAmerican journal of ophthalmology case reports2025
Tapetal-like sheen as a key phenotypical feature in
Article in American journal of ophthalmology case reports, 2025. 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
Purpose: To report a patient with cone dystrophy and a striking tapetal reflex caused by a novel variant in Observation: A 33-year-old male patient presented with Bull's eye maculopathy and a tapetal-like reflex, confirmed via fundus examination and multimodal imaging. Initial genetic testing with a macular dystrophy panel was negative. Electroretinography showed reduced photopic responses and normal scotopic responses, supporting a diagnosis of cone dystrophy, and subsequent evaluation using an extended inherited retinal dystrophy panel identified a homozygous Conclusions and importance: This case underscores the critical role of accurate phenotyping in guiding molecular genetic testing, particularly in distinguishing cone dystrophy from other macular dystrophies, and highlights the unique expertise of inherited retinal disease specialists in this process. Additionally, it further validates the possibility that the tapetal reflex is a common but previously underrecognized feature of
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