maculadystrofies

Maculadystrophies, or macular dystrophies, are a group of inherited retinal disorders characterized by degeneration or dysfunction of the macula, the central retina responsible for sharp, detailed vision. They are genetically diverse, with modes of inheritance including autosomal dominant, autosomal recessive, and X-linked patterns. Onset can be in childhood or adulthood, and the rate of progression varies by subtype.

Well-known forms include Stargardt disease (juvenile macular dystrophy) caused by ABCA4 mutations; Best vitelliform macular dystrophy due to BEST1 mutations; pattern dystrophies linked to genes such as PRPH2; Sorsby fundus dystrophy (TIMP3); and Doyne honeycomb macular dystrophy (EFEMP1). Each subtype has distinct clinical features and ages of onset, but all primarily affect central vision.

Clinical presentation typically involves gradual loss of central vision, metamorphopsia (distorted vision), and scotomas, with peripheral vision usually preserved. The course is highly variable; some forms progress slowly while others show more rapid deterioration. Fundus appearance varies with subtype and stage.

Diagnosis rests on a combination of ophthalmic examination and macular imaging. Optical coherence tomography reveals specific outer retinal and RPE changes; fundus autofluorescence highlights lipofuscin accumulation; fluorescein or indocyanine green angiography may be used to assess the retina and choroid. Genetic testing is important to confirm the subtype and guide family counseling.

Management is largely supportive, as there is no cure for most maculadystrophies. Care focuses on visual rehabilitation, monitoring for complications such as choroidal neovascularization, and using low vision aids. Some forms are being explored in clinical trials for gene therapy and related approaches. Prognosis is highly subtype-dependent, with Stargardt being among the most common juvenile macular dystrophies. Maculadystrophies are generally rare overall.