AMD is the leading cause of irreversible vision loss in Australians over 50, and family history is one of its strongest predictors. First-degree relatives of an affected patient carry roughly a three- to four-fold increased lifetime risk, with heritability estimated at 45–70%. A parent or sibling with AMD is a meaningful red flag worth noting at routine review.
Genetic testing
Testing (principally CFH and ARMS2/HTRA1 variants) is available but not currently recommended for routine risk stratification. Family history and dilated fundus examination remain the practical screening tools. Nonetheless, next generation and sibling risk stratification can be assisted by genome wide association testing. Notably, CFH complement dysregulation links AMD with renal pathology, and chronic kidney disease is increasingly recognised as an independent associate — shared complement-mediated and vascular mechanisms are implicated. Patients under your care for CKD warrant a low threshold for retinal review.
Prevention — largely modifiable
Smoking cessation is the single most important intervention — smokers carry double the risk. Untreated or poorly controlled hypertension is a further vascular contributor, particularly to neovascular AMD, so blood pressure optimisation offers dual cardiovascular and ocular benefit. Encourage a Mediterranean or pescetarian-style diet rich in leafy greens and oily fish; the omega-3 fatty acids (DHA/EPA) in fish are associated with reduced progression, alongside UV protection and cardiovascular risk factor control. AREDS2 supplementation when recommended by eye care professionals slows progression in intermediate or advanced disease.
Prognosis — transformed
Early AMD is compatible with excellent vision, and neovascular (“wet”) AMD responds well to prompt anti-VEGF therapy — making early referral critical. Emerging complement inhibitor injection therapy extends options for geographic (“dry”) atrophy.
REFER EARLY. Please refer patients with a significant family history of AMD, new visual distortion (metamorphopsia), or macula drusen for baseline assessment. Early detection preserves sight.
Referrals & Rapid Access
