Results 141 to 150 of about 9,987 (182)

Unveiling a Rare Phenotypic Presentation of Mitofusin 2 Mutation as Cerebellar Ataxia. [PDF]

Ann Indian Acad Neurol
Robert P, Velayudhan SC, Aboobekar HA, Sudhakaran P.   +3 more
europepmc   +1 more source

PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review. [PDF]

Mol Genet Genomic Med
Subbotin D, Akimova D, Dadali E, Mikhalchuk K, Borovikov A, Kadyshev V, Skoblov M, Murtazina A.   +7 more
europepmc   +1 more source

Early-onset drusen in Malattia Leventinese with <i>EFEMP1</i> mutation differ from drusen in age-related macular degeneration. [PDF]

Rom J Ophthalmol
Shakeel A, Bhatt D, Sripriya S, Ratra D.
europepmc   +1 more source

MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy

Neuroradiology, 2000
Measurements of the intraorbital optic nerve were made using high-resolution coronal MRI in 10 adults with autosomal dominant optic atrophy. Comparisons were made with previous studies of 10 normal adult subjects. The cross-sectional diameters of the optic nerve and the perineural subarachnoid space were measured and a ratio of there diameters at ...
Marcela Votruba, Shomi S Bhattacharya, Anthony T Moore   +2 more
exaly   +4 more sources

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Autosomal Dominant Optic Atrophy

2019
There is a broad differential diagnosis for bilateral optic neuropathies, including inflammatory, ischemic, compressive, traumatic, nutritional, toxic, and inherited causes. In this chapter, we begin by discussing the approach to the patient who has bilateral symmetric optic neuropathies. We next review the genetic basis, clinical features, and natural
Matthew J. Thurtell, Robert L. Tomsak
exaly   +2 more sources

Variable severity in autosomal dominant optic atrophy

Ophthalmic Paediatrics and Genetics, 1985
There are some indications in the literature on autosomal dominant optic atrophy that there are two genetic types - a congenital and a post-natal. This paper reviews the ocular findings of three affected members of a family with autosomal dominant optic atrophy - a father and two daughters - which appear to fit the criteria for a 'congenital' type of ...
exaly   +3 more sources

MULTIPLE SCLEROSIS–LIKE DISORDER IN OPA1-RELATED AUTOSOMAL DOMINANT OPTIC ATROPHY

Neurology, 2008
Autosomal dominant optic atrophy (ADOA) is a progressive ophthalmologic disorder caused in two-thirds of the cases by a mutation in the optic atrophhy 1 (IPA1) gene, a nuclear gene encoding a mitochondrial protein. We report a patient in whom an OPA1 mutation was responsible for a bilateral optic atrophy associated with multiple sclerosis-like (MSL ...
Verny, Christophe, Loiseau, Dominique, Scherer, Clarisse, Lejeune, P., Chevrollier, Arnaud, Gueguen, Naïg, Guillet, Virginie, Dubas, Frédéric, Reynier, Pascal, Amati-Bonneau, Patrizia, Bonneau, Dominique   +10 more
openaire   +4 more sources