[Doyne-type honeycombed macular degeneration]

Area of Science:

• Ophthalmology
• Medical Genetics
• Retinal Diseases

Background:

• Doyne degeneration is a rare autosomal dominant condition characterized by drusenoid deposits.
• It is caused by mutations in the EFEMP1 gene, affecting Bruch's membrane integrity.
• The condition typically leads to progressive visual impairment.

Observation:

• A 52-year-old patient presented with lifelong, mosaic-like, yellow-white lesions in the macula, papilla, and interpapillary regions.
• Ophthalmoscopy revealed a pseudohole in the left macula, with good visual acuity but noticeable image distortion.
• Functional tests showed central scotomas, reduced visual capacity, diminished adaptometry, and dyschromatopsia.

Findings:

• Angiography demonstrated hyperfluorescence corresponding to the ophthalmoscopic yellow-white deposits.
• Lesions were consistent with Doyne degeneration, attributed to mucopolysaccharide accumulation in the cuticular layer of Bruch's membrane.
• Despite extensive funduscopic changes, the patient maintained relatively good visual function.

Implications:

• This case underscores the variable clinical presentation and functional prognosis of Doyne degeneration.
• Understanding the pathophysiology of mucopolysaccharide deposition is crucial for potential therapeutic strategies.
• Further research into genotype-phenotype correlations may aid in predicting disease progression and visual outcomes.