| Literature DB >> 28941524 |
Pablo Altschwager1, Lucia Ambrosio2, Emily A Swanson3, Anne Moskowitz2, Anne B Fulton2.
Abstract
In this article, we review the following 3 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 imaging, and genetic testing. Early diagnosis promotes optimal management. Although there is currently no definitive cure for these conditions, therapeutic modalities under investigation include pharmacologic treatment, gene therapy, and stem cell transplantation.Entities:
Mesh:
Year: 2017 PMID: 28941524 PMCID: PMC5709045 DOI: 10.1016/j.spen.2017.05.005
Source DB: PubMed Journal: Semin Pediatr Neurol ISSN: 1071-9091 Impact factor: 1.636