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Juvenile Macular Degenerations #MMPMID28941524
Altschwager P; Ambrosio L; Swanson EA; Moskowitz A; Fulton AB
Semin Pediatr Neurol 2017[May]; 24 (2): 104-9 PMID28941524show ga
In this paper we review three common juvenile macular degenerations: Stargardt disease, X-linked retinoschisis, and Best vitelliform macular dystrophy. These are inherited disorders that typically present during childhood, when vision is still developing. They are sufficiently common that they should be included in the differential diagnosis of visual loss in pediatric patients. Diagnosis is secured by a combination of clinical findings, optical coherence tomography (OCT) imaging, and genetic testing. Early diagnosis promotes optimal management. While there is currently no definitive cure for these conditions, therapeutic modalities under investigation include pharmacologic treatment, gene therapy, and stem cell transplantation.