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10.1016/j.spen.2017.05.005

http://scihub22266oqcxt.onion/10.1016/j.spen.2017.05.005
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C5709045!5709045 !28941524
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suck abstract from ncbi

pmid28941524
      Semin+Pediatr+Neurol 2017 ; 24 (2 ): 104-109
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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 ): 104-109 PMID28941524 show ga
  • 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.
  • |Child [MESH]
  • |Humans [MESH]
  • |Macula Lutea/diagnostic imaging/growth & development [MESH]
  • |Macular Degeneration/*congenital/diagnosis/genetics/therapy [MESH]
  • |Retinoschisis/*diagnosis/genetics/*therapy [MESH]
  • |Stargardt Disease [MESH]


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