Mitochondrial disorders and the eye
E Kisilevsky, P Freund, E Margolin - Survey of Ophthalmology, 2020 - Elsevier
Mitochondria are cellular organelles that play a key role in energy metabolism and oxidative
phosphorylation. Malfunctioning of mitochondria has been implicated as the cause of many …
phosphorylation. Malfunctioning of mitochondria has been implicated as the cause of many …
Autosomal Dominant Optic Atrophy Plus Syndrome: A Case Report
VR Prabu, H Ranjini, RB Wasnik… - Delhi Journal of …, 2020 - journals.lww.com
A 9-year-old boy of Indian origin presented with defective vision and nystagmus. The
parents also complained of hearing loss. On examination he had bilateral optic atrophy. The …
parents also complained of hearing loss. On examination he had bilateral optic atrophy. The …
Dominantní (Kjerova) atrofie optiku asociovaná s mutacemi v OPA1 genu.
S Kelifová, T Honzík, M Tesařová… - Česká a Slovenská …, 2020 - search.ebscohost.com
Dominant optic atrophy (DOA) is an autosomal dominant disorder manifest ing by slowly
progressive painless bilateral visual acuity loss with variable degree of severity. DOA is …
progressive painless bilateral visual acuity loss with variable degree of severity. DOA is …