Retinal cases & brief reports · 2026
12-YEAR FOLLOW-UP OF A BENIGN YELLOW DOT MACULOPATHY CASE.
СтатьяКлинический случайНазвание и аннотация: Перевод пока не подготовлен
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Nunziata Annamaria, Del Fabbro Sebastiano, Antropoli Alessio, Bianco Lorenzo, Arrigo Alessandro, Bandello Francesco, Mansour Ahmad M, Parodi Maurizio Battaglia
Аннотация
PURPOSE: Benign yellow dot maculopathy (BYDM) is a rare macular phenotype first described in 2017, characterized by yellow macular dots with preserved visual function. Although it is considered a nonprogressive condition, long-term follow-up data are limited. This case report presents a 12-year follow-up of a patient with BYDM, offering insights into its long-term stability over time.
METHODS: The patient underwent comprehensive multimodal imaging, including optical coherence tomography, fundus autofluorescence, electro-oculography, and microperimetry. Genetic analysis through next-generation sequencing was also performed to explore potential genetic associations.
RESULTS: At baseline, fundus autofluorescence revealed characteristic hyperautofluorescent yellow dots in the macular and midperipheral retina, while optical coherence tomography showed no structural abnormalities. Electro-oculography demonstrated subnormal responses, suggesting retinal pigment epithelium dysfunction, and microperimetry indicated a global reduction in retinal sensitivity. Genetic testing identified two heterozygous variants of uncertain significance ( ALMS1 and GPR179 ), but no pathogenic mutations associated with macular dystrophies. During the 12-year follow-up, no progression of structural or functional abnormalities was observed, supporting the nonprogressive nature of BYDM.
CONCLUSION: This case represents one of the longest follow-ups reported for BYDM, confirming its long-term stability. Despite subtle functional alterations, the absence of disease progression supports its benign nature. Further research is needed to refine the clinical spectrum of BYDM and distinguish it from other macular disorders.
METHODS: The patient underwent comprehensive multimodal imaging, including optical coherence tomography, fundus autofluorescence, electro-oculography, and microperimetry. Genetic analysis through next-generation sequencing was also performed to explore potential genetic associations.
RESULTS: At baseline, fundus autofluorescence revealed characteristic hyperautofluorescent yellow dots in the macular and midperipheral retina, while optical coherence tomography showed no structural abnormalities. Electro-oculography demonstrated subnormal responses, suggesting retinal pigment epithelium dysfunction, and microperimetry indicated a global reduction in retinal sensitivity. Genetic testing identified two heterozygous variants of uncertain significance ( ALMS1 and GPR179 ), but no pathogenic mutations associated with macular dystrophies. During the 12-year follow-up, no progression of structural or functional abnormalities was observed, supporting the nonprogressive nature of BYDM.
CONCLUSION: This case represents one of the longest follow-ups reported for BYDM, confirming its long-term stability. Despite subtle functional alterations, the absence of disease progression supports its benign nature. Further research is needed to refine the clinical spectrum of BYDM and distinguish it from other macular disorders.