Multimodal imaging of benign yellow dot maculopathy

Area of Science:

• Ophthalmology
• Medical Genetics

Background:

• Benign Yellow Dot Maculopathy is a rare macular disorder.
• Understanding its clinical and anatomical features is crucial for diagnosis and management.

Purpose of the Study:

• To describe the clinical features of Benign Yellow Dot Maculopathy in two unrelated families.
• To analyze the anatomical and functional findings associated with this phenotype.

Main Methods:

• Retrospective case series of 5 patients.
• Multimodal imaging including fundus autofluorescence (FAF), OCT, OCT angiography (OCT-A), and Adaptive Optics (AO).
• Clinical and genetic evaluation.

Main Results:

• Patients presented with symmetric multiple yellow dots at the posterior pole, good visual acuity (20/20), and hyper-autofluorescence on FAF.
• OCT revealed mild RPE irregularities and changes in IZ/EZ.
• OCT-A was normal; AO showed hyper-reflective lesions in the cone mosaic.
• Genetic testing in one patient did not reveal pathogenic variants for retinal dystrophies.

Conclusions:

• Benign Yellow Dot Maculopathy is a benign condition with a stable clinical course and normal macular function.
• Multimodal imaging is effective for detailed detection and long-term monitoring.