Extended phenotypic spectrum of benign yellow dot maculopathy

Area of Science:

• Ophthalmology
• Medical Genetics
• Retinal Imaging

Background:

• Benign yellow dot maculopathy (BYDM) is a rare condition characterized by distinct macular findings.
• Understanding its morphological and functional characteristics is crucial for accurate diagnosis and management.

Purpose of the Study:

• To characterize the clinical presentation of benign yellow dot maculopathy.
• To investigate the potential for familial transmission and long-term progression of BYDM.

Main Methods:

• Comprehensive ocular examinations including best-corrected visual acuity (BCVA) and optical coherence tomography (OCT).
• Advanced imaging techniques such as blue-light fundus autofluorescence (BAF) and near-infrared autofluorescence (NIR-AF).
• Examination of first-degree family members to assess for vertical transmission.

Main Results:

• 25 individuals from 19 families diagnosed with BYDM, with a median age of 37 years.
• All patients maintained BCVA of 20/25 or better; yellow dots were observed in the macula, extending to vascular arcades in many.
• OCT showed minimal abnormalities in some, while autofluorescence revealed specific patterns (hyper-autofluorescent on BAF, hypo-autofluorescent on NIR-AF).

Conclusions:

• BYDM often presents with a mild phenotype, potentially leading to underdiagnosis.
• The condition demonstrates hypo-autofluorescence on NIR-AF and lacks significant morphological or functional progression.
• Early identification of BYDM can reduce unnecessary investigations and patient anxiety.