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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]