Juvenile Macular Degenerations.

Pablo Altschwager, Lucia Ambrosio, Emily A Swanson, Anne Moskowitz, Anne B Fulton

Journal: Seminars in pediatric neurology 2018;24(2):104-109

PMID: 28941524

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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.

Address: Departamento de Oftalmología, Escuela de Medicina, Pontificia, Universidad Católica de Chile, Santiago, Chile. Electronic address: [email protected].; Department of Ophthalmology, Children׳s Hospital, Boston, MA; Department of Ophthalmology, Harvard Medical School, Boston, MA.; Department of Ophthalmology, Children׳s Hospital, Boston, MA.

DOI: 10.1016/j.spen.2017.05.005

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MeSH Terms: Child, Humans, Macula Lutea, Macular Degeneration, Retinoschisis, Stargardt Disease, Vitelliform Macular Dystrophy