Eye diseases
Genetic eye diseases are a diverse group of disorders caused by inherited mutations that affect vision and eye function. These conditions can impair the development, structure, or function of crucial eye components, such as the retina, optic nerve, or lens. Many genetic eye diseases are progressive, leading to vision loss, blindness, or other severe complications.
Genetic eye diseases vary widely in severity and onset. Some conditions lead to early-onset vision loss, while others may progress over time. The impact of these conditions extends beyond sight loss, often affecting quality of life.
To date, almost 600 genetic eye diseases have been identified (1). While individually rare, collectively they represent a significant cause of blindness in both children and adults. In the Netherlands alone, thousands of families are affected, yet effective treatments are limited.
At Emma CPM, we are committed to changing this. By combining expertise within Amsterdam UMC, we focus on pioneering the development of new treatments for genetic eye diseases. Through collaborative research and personalized medicine, we aim to restore vision and improve the lives of children and adults affected by these conditions.
Gyrate atrophy of the choroid and retina (GACR; MIM 258870) is a rare genetic metabolic disorder that affects vision. GACR typically occurs at a low incidence, affecting approximately 1 in 1.000.000 individuals. It is caused by mutations in the OAT gene, which leads to a deficiency in the enzyme ornithine aminotransferase.
As a result of this enzyme deficiency, excessive levels of the amino acid ornithine accumulate in the body, leading to progressive degeneration of the choroid (a vascular layer in the eye) and the retina (the light-sensitive inside lining of the eye). This degeneration causes gradual vision loss. Individuals with GACR typically experience night blindness and nearsightedness in early childhood. Over time, they lose their peripheral vision (tunnel vision), and cataracts may develop. If left untreated, most patients become completely blind around 50 years of age.
Currently, there is no standard therapy to cure gyrate atrophy. Management focuses on supportive care, such as low-vision aids and counseling to help patients adapt to vision changes, and in some cases vitamin B6 supplementation. However, none of these treatments halt disease progression, highlighting the urgent need for evidence-based therapies.
At Emma CPM, we focus on addressing this need through a multidisciplinary team approach. We obtain detailed natural history data of affected individuals, use state-of-the-art technologies to investigate the pathophysiology of GACR, and investigate new potential treatments, including nutritional supplements, drugs, and innovative molecular therapies.
The Emma CPM is a center of expertise at the Amsterdam UMC focusing on patients and families with a rare genetic disorder.
A collaboration between the Emma Children's Hospital, the Department of Human Genetics, the Laboratory of Genetic Metabolic Diseases, and various departments and laboratories.