What are the most common causes of macular drusen in a 30-year-old individual?

From the Guidelines

Macular drusen in a 30-year-old individual are most commonly caused by underlying hereditary conditions, such as inherited retinal dystrophies, rather than age-related macular degeneration. The most common causes in young adults include inherited retinal dystrophies such as Doyne honeycomb retinal dystrophy (familial drusen), Malattia Leventinese, and Best vitelliform macular dystrophy 1. Other potential causes include:

• Inflammatory conditions like ocular histoplasmosis syndrome
• Drug-induced retinopathies (particularly from medications like thioridazine)
• Rarely, early-onset forms of macular degeneration due to genetic mutations Drusen may also appear secondary to other retinal conditions or systemic diseases with ocular manifestations. Any young adult with macular drusen should undergo comprehensive ophthalmologic evaluation including genetic testing, fluorescein angiography, and optical coherence tomography to determine the specific cause 1. Early diagnosis is crucial as some conditions may progress to vision loss, and while there are no specific treatments for most drusen themselves, identifying the underlying cause can help manage associated conditions and monitor for complications. Regular follow-up with an ophthalmologist specializing in retinal diseases is essential for these patients. It is worth noting that age-related macular degeneration is generally more common in older adults, and the presence of drusen in a 30-year-old individual is uncommon and typically suggests a hereditary condition rather than age-related macular degeneration 1. The most recent study 1 highlights the importance of screening for impaired visual acuity in older adults, but also notes that older age is an important risk factor for most types of visual impairment. However, in the context of a 30-year-old individual, the focus should be on identifying underlying hereditary conditions or other potential causes of macular drusen.

From the Research

Causes of Macular Drusen in 30-Year-Old Individuals

• Macular drusen in a 30-year-old individual can be caused by hereditary factors, as stated in the study 2, which suggests that familial drusen are an autosomal dominant inherited disease.
• The study 2 also mentions that the disease is caused by an unclear metabolic defect of the retinal pigment epithelium, leading to an accumulation of metabolic break-down deposits from the retina and from the retinal pigment epithelium within the inner collagenous layer of Bruch's membrane.
• Another possible cause of macular drusen in young individuals is the presence of systemic conditions or inherited disorders, as discussed in the study 3, which highlights that drusen can occur in a number of inherited disorders and some systemic conditions.

Types of Drusen

• The study 4 describes two types of drusen: hard drusen and soft drusen, which have different clinical appearances and different prognoses.
• Hard drusen appear as small, punctate, yellow nodules and can precede the development of atrophic AMD, while soft drusen appear as large, pale yellow or grayish-white, dome-shaped elevations that can resemble localized serous RPE detachments.
• The study 3 also mentions other types of drusen, including cuticular drusen, reticular pseudodrusen, and "ghost drusen", which can be associated with ageing or AMD.

Diagnosis and Treatment

• Early diagnosis of familial drusen is necessary to perform thorough family and job counseling, as stated in the study 2.
• The study 5 presents a case of peripapillary choroidal neovascularization associated with optic nerve head drusen, which required treatment with anti-VEGF agents, highlighting the importance of individualized treatment plans for patients with macular degeneration involving peripapillary choroidal neovascularization associated with optic nerve head drusen.