Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant

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 <i>TTLL5</i>-associated retinal dystrophies and expands the known variant spectrum of <i>TTLL5</i>-associated disease. The presence of a tapetal reflex-previously widely associated with RPGR-associated dystrophies-highlighting the overlapping disease mechanisms and clinical presentation.