Posterior Segment
Autosomal Dominant Drusen
Also known as: autosomal dominant drusen, malattia leventinese, doyne honeycomb retinal dystrophy, doyne honeycomb dystrophy, familial drusen, dominant drusen, radial drusen, early onset drusen
Filed as: Routine
Source-cited from the record's own evidence list. Clinical content programme led by Dr Ankit Mathur, PhD, Grad Cert Ocu Thera, B.S. Optom. How the clinical content is governed
Clinical decision support only
Overview
Autosomal dominant drusen (Malattia Leventinese, Doyne honeycomb retinal dystrophy) is an inherited macular dystrophy with full penetrance that appears in the third to fourth decade. Drusen-like deposits gather at the macula, radiating from the fovea or forming a honeycomb. Vision loss is usually slow and follows macular atrophy or choroidal neovascularisation, which is more frequent than once thought. The optometry role is to separate it from age-related macular degeneration, image it, and refer to establish the diagnosis.
Recognition
Symptoms: what patients report
- Often none when first found in a patient in their thirties or forties.
- Slow central blur or difficulty reading as atrophy develops.
- Sudden distortion or a drop in vision raises concern for choroidal neovascularisation.
Signs: what the examination shows
- Drusen-like deposits at the macula, radiating outward from the fovea or packed in a honeycomb pattern.
- Usually bilateral and fairly symmetrical.
- OCT: bright thickening of the RPE and Bruch membrane complex, with disruption of the photoreceptor layer.
- Fundus autofluorescence: large drusen are typically bright; small radial drusen are not.
What OptoGuide™ covers for autosomal dominant drusen
- Pattern reasoning: what this combination of findings points to, and its differentiators
- Don't-miss risks and escalation triggers
- Management tiers with linked Australian therapeutics
- Referral urgency, specialty, and letter drafting
Sources
- Centre for Eye Health — Chair-side Reference: Macula Dystrophies
- de Guimaraes TAC et al. A Long-Term Retrospective Natural History Study of EFEMP1-Associated Autosomal Dominant Drusen. Invest Ophthalmol Vis Sci 2024;65(6):31 (CNV in 15 eyes of 44 patients over a mean of 7.9 years, more frequent than previously reported)
- Marques JP et al. Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies. Clin Genet 2025;107:600-611 (adult follow-up at intervals of 1 to 2 years)