Macular degeneration in young individuals: Root causes and indicators
Juvenile macular degenerations (JMD) are a group of inherited eye disorders that affect the macula of the eye, causing central vision loss in children and young adults. The three most common forms of JMD are Stargardt disease, Best's disease, and juvenile retinoschisis.
Stargardt Disease
Stargardt disease, also known as fundus flavimaculatus, is the most common type of JMD, affecting approximately 1 in every 10,000 children. It is caused by mutations in the ABCA4 gene, leading to the accumulation of toxic lipofuscin in the retinal pigment epithelium.
Symptoms of Stargardt disease include progressive central vision loss, difficulty seeing fine details, and often heightened light sensitivity or glare issues. Currently, no approved cure exists, but investigational treatments are underway. These include small-molecule drugs, visual cycle modulators, gene therapies, and approaches addressing oxidative stress, inflammation, and complement system regulation.
Best's Disease
Best's disease, also known as Best's vitelliform retinal dystrophy, is the most common form of dystrophinopathy and may affect between 1 and 9 out of every 100,000 people. It typically presents with progressive central vision loss starting in childhood or adolescence, caused by mutations in the BEST1 gene leading to vitelliform macular lesions.
Unlike Stargardt disease, there is no approved treatment to reverse the disease. Management focuses on regular monitoring and addressing complications like choroidal neovascularization if present. Low vision rehabilitation may also be beneficial.
Juvenile Retinoschisis
Juvenile retinoschisis is a rare, autosomal recessive disease linked with an alteration in the RS1 gene on the X chromosome. It is characterised by splitting of the retinal layers, especially in the macula, leading to decreased central vision and sometimes peripheral field defects.
Juvenile retinoschisis primarily affects males, and it occurs in roughly 1 in 5,000-25,000 males worldwide. The main symptom of juvenile retinoschisis is a reduction in visual acuity, typically in the 20/60 to 20/120 range. Regular ophthalmic monitoring is advised, and patients may use low vision aids. Surgical intervention can be considered if complications such as retinal detachment arise.
Distinguishing JMD from Age-Related Macular Degeneration (AMD)
JMD distinguishes itself from age-related macular degeneration (AMD), where macular damage occurs in older age and is associated with the normal aging process. Unlike JMD, AMD does not have a clear genetic cause and does not typically affect children and young adults.
In summary, all three diseases mainly cause progressive central vision loss during childhood or adolescence with no definitive cures currently. Management is supportive, focusing on visual rehabilitation, protection from excessive light exposure, and in Stargardt disease, experimental therapies targeting underlying molecular mechanisms are under active investigation.
- Despite various investigational treatments, none of the Stargardt disease, Best's disease, or juvenile retinoschisis currently have approved cures, unlike some chronic diseases or medical conditions that might be managed with Pfizer's pharmaceutical interventions.
- Science's continued efforts to understand and combat eye-health issues, such as macular degenerations, hold significant implications for health-and-wellness, particularly in addressing diseases like Stargardt and Best's diseases that primarily affect children and young adults.
- The management of juvenile macular degenerations like Stargardt disease and Best's disease often involves protecting sensitive eyes from light and utilizing visual aids, with juvenile retinoschisis specifically requiring regular ophthalmic monitoring for complications like retinal detachment.
