Kiraly Peter, Birtel Johannes, Ong Ariel Y, Ruan Claire, Fischer M Dominik, Charbel Issa Peter
Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Eye (Lond). 2025 Jun;39(8):1547-1552. doi: 10.1038/s41433-024-03590-4. Epub 2025 Feb 21.
To present the morphological and functional characteristics of individuals with benign yellow dot maculopathy (BYDM).
Assessments included ocular examinations, best-corrected visual acuity (BCVA) testing, optical coherence tomography (OCT), blue-light fundus autofluorescence (BAF), and near-infrared autofluorescence (NIR-AF). First degree family members were also examined whenever available.
25 individuals with BYDM (15 females, 10 males) from 19 unrelated families with a median age at first presentation of 37 years (range, 4-54 years) were included in the study. The 19 index patients were referred for assessment of early-onset drusen (n = 10), macular dystrophy (n = 6), or an unrelated ocular condition (n = 3). Clinical examination of 15 first-degree family members of 8 probands revealed vertical transmission in 6 relatives. After excluding 6 patients with other ocular pathologies, BCVA was 20/25 or better in all patients. Fundoscopically, all patients had yellow dots in the macular area, extending to the vascular arcades in 19 and beyond in 11 individuals. Hyper-autofluorescent dots on BAF topographical matched the dots seen on fundoscopy, while hypo-autofluorescent dots were noted on NIR-AF. OCT revealed no abnormalities in 14 cases, but mild ellipsoid zone irregularities were observed in 11. No morphological or functional progression was noted in 15 individuals over an average follow-up period of 3.6 years.
BYDM may present with a mild phenotype with yellow dots extending to the vascular arcades and beyond, suggesting it could be more common than previously reported. Recognizing this phenotype may reduce unnecessary investigations and follow-ups. Yellow dots show hypo-autofluorescence on NIR-AF and there is no morphological or functional progression.
阐述良性黄斑黄点病变（BYDM）患者的形态学和功能特征。
评估包括眼科检查、最佳矫正视力（BCVA）测试、光学相干断层扫描（OCT）、蓝光眼底自发荧光（BAF）和近红外自发荧光（NIR-AF）。如有可能，还对一级家庭成员进行了检查。
本研究纳入了来自19个无亲缘关系家庭的25例BYDM患者（15例女性，10例男性），首次就诊时的中位年龄为37岁（范围4 - 54岁）。19例索引患者因早发性玻璃膜疣（n = 10）、黄斑营养不良（n = 6）或其他无关眼部疾病（n = 3）而被转诊进行评估。对8例先证者的15名一级家庭成员进行临床检查，发现6名亲属存在垂直遗传。排除6例患有其他眼部疾病的患者后，所有患者的BCVA均为20/25或更好。眼底检查显示，所有患者黄斑区均有黄点，19例患者黄点延伸至血管弓，11例患者黄点超出血管弓。BAF地形图上的高自发荧光点与眼底检查所见的黄点相符，而NIR-AF上则可见低自发荧光点。OCT检查显示14例患者无异常，但11例患者观察到轻度椭圆体带不规则。15例患者在平均3.6年的随访期内未出现形态学或功能进展。
BYDM可能表现为轻度表型，黄点延伸至血管弓及以外，提示其可能比先前报道的更为常见。认识到这种表型可能会减少不必要的检查和随访。黄点在NIR-AF上显示低自发荧光，且无形态学或功能进展。
