کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5633510 1581341 2017 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches
چکیده انگلیسی

Dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common inherited optic neuropathies encountered in clinical practice. This review provides a summary of recent advances in the understanding of the clinical manifestations, current treatments, and ongoing clinical trials of these two optic neuropathies. Substantial progress has been made in the understanding of the clinical, genetic, and pathophysiological basis of DOA and LHON. Pathogenic OPA1 gene mutations in DOA and 3 primary mutations of mitochondrial DNA in LHON-induced mitochondrial dysfunction, which in turn leads to increased reactive oxygen species levels in mitochondria and possibly insufficient ATP production. The pathologic hallmark of these inherited optic neuropathies is primary degeneration of retinal ganglion cells, preferentially in the papillomacular bundle, which results in temporal optic disc pallor and central or cecocentral visual loss. There are no effective treatments for patients with LHON and DOA, although clinical trials are underway for the former. Translational research for these diseases is entering an accelerated phase with the availability of animal models, and a variety of pharmacological and genetic therapies are being developed.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Pediatric Neurology - Volume 24, Issue 2, May 2017, Pages 129-134
نویسندگان
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