Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family

Leber hereditary optic neuropathy (LHON) is a rare disease with a prevalence of 1 in 25,000 births. LHON usually presents in young males, with painless loss of visual acuity in one or both eyes. Recently an autosomal recessive form of the disease (arLHON or LHONAR) has been described, which is cause...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Dorota Pojda-Wilczek, Justyna Wójcik, Bożena Kmak, Maciej Robert Krawczyński
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	MDPI AG 2022-11-01
Цуврал:	Diagnostics
Нөхцлүүд:	Leber hereditary optic neuropathy LHON arLHON idebenone Photopic Negative Response ERG Visual Evoked Potentials
Онлайн хандалт:	https://www.mdpi.com/2075-4418/12/11/2701
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!