Maculadystrofi

Maculadystrofi, or macular dystrophy, is a collective term for inherited retinal disorders in which the macula—the central area of the retina responsible for sharp, detailed vision—is primarily affected. These conditions are typically progressive and can lead to reduced central vision, metamorphopsia (distorted vision), and color vision changes, while peripheral vision is often preserved. Onset and severity vary by subtype, ranging from childhood to adulthood.

Genetic forms include Stargardt disease (fundus flavimaculatus), usually autosomal recessive due to ABCA4 mutations, with early-onset central vision loss and distinctive fleck-like fundus changes and autofluorescence patterns. Best disease (vitelliform macular dystrophy) is autosomal dominant and caused by BEST1 mutations; it presents with a yellow subretinal lesion that evolves through several stages and may yield variable vision. Other pattern dystrophies and cone or cone-rod dystrophies can also involve the macula. A family history often aids in identifying inheritance patterns.

Diagnosis relies on eye examination and imaging. Fundus photography, fundus autofluorescence, and optical coherence tomography reveal macular pathology, while fluorescein angiography may be used in some cases. Functional testing, such as microperimetry or electroretinography, helps assess retinal function and may vary by condition.

Management currently focuses on vision optimization rather than cure. There is no widely available disease-modifying therapy for most macular dystrophies. Patients benefit from low-vision aids, adaptive strategies, and genetic counseling. Emerging therapies, including gene therapy and other molecular approaches, are under investigation in clinical trials, but none are broadly approved. Regular ophthalmic follow-up is important to monitor progression and manage complications.