Leber’s (Plus?) Hereditary Optic Neuropathy: A Case Report
ثبت نشده
چکیده
Leber's hereditary optic neuropathy (LHON)-plus is a maternally inherited genetic disorder of young males and characterized by severe progressive vision loss with other neurological and systemic symptoms. Here we present a young male with subacute progressive vision loss and Parkinsonism symptoms like right arm rigidity and endocrine abnormalities like hypoparathyroidism as a probable LHON-plus case.
منابع مشابه
Case Report Right auditory dysfunction during acute Leber’s hereditary optic neuropathy harboring the 14484 mtDNA mutation: a case report
Puspose: We report a case of a 17-year-old man who developed right auditory dysfunction, one month after the onset of visual loss caused by Leber’s hereditary optic neuropathy (LHON). Methods: A full examination including a blood Mitochondrial DNA examination, auditory assessment and cranial magnetic resonance imaging were performed during the acute stage of the Leber’s hereditary optic neuropa...
متن کاملLeber’s hereditary optic neuropathy - case report
Leber’s hereditary optic neuropathy is a neuro-ophthalmological entity characterized by acute or subacute bilateral, not simultaneous visual loss with centro cekal scotoma and occasional further visual improvement. This rare ophthalmological disease can be accompanied with dyschromatopsia. It is associated with a matrilineal inheritance pattern. Its diagnosis used to be solely clini¬cal, aided ...
متن کاملCardiac abnormalities in patients with Leber's hereditary optic neuropathy.
Leber’s hereditary optic neuropathy (LHON) is characterised by acute or subacute central visual loss that typically occurs in early adult life. Three mitochondrial DNA (mtDNA) point mutations, 3460, 11778, and 14484, account for more than 90% of all LHON cases. Cardiac involvement in LHON has been suspected ever since Leber’s original 1871 report in which some patients with the disease complain...
متن کاملMagnetic resonance, magnetisation transfer, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy.
The association between Leber’s hereditary optic neuropathy and multiple sclerosis has encouraged the search for susceptibility genes in multiple sclerosis. This symbiotic relation is reversed in the paper by Inglese et al (this issue, pp 444–449) in which magnetic resonance (MR) techniques originally developed for studying multiple sclerosis were applied to patients with Leber’s hereditary opt...
متن کاملSCIENTIFIC REPORT Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber’s hereditary optic neuropathy
Aims: To compare the ultrastructural aspects of human extraocular muscles in two types of mitochondrial disease: chronic progressive external ophthalmoplegia (CPEO) and Leber’s hereditary optic neuropathy (LHON). Methods: Muscle samples of the medial rectus obtained from surgery in a sporadic case of CPEO associated with deleted mitochondrial DNA, and post mortem in a case of 3460/ ND1 LHON wer...
متن کامل