Claudia Fossataro1,2*, Maria Cristina Savastano1,2, Alfonso Savastano1,2, Riccardo Sadun1,2, Valentina Cestrone1,2, Raphael Kilian3 and Stanislao Rizzo1,2,4
1Ophthalmology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy
2Ophthalmology Unit, Catholic University of the Sacred Heart, Rome, Italy
3Ophthalmology Unit, University of Verona, Verona, Italy
4CNR Neuroscience Institute, Pisa, Italy
*Corresponding Author: Claudia Fossataro, Ophthalmology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Received: April 05, 2023; Published: May 25, 2023
Mitochondria represent the powerhouse of the eukaryotic cells, being responsible of energy production and cell survival. The retina, in particular retinal ganglion cells and photoreceptors, which requires great amount of energy to perform daily activity, have a strong dependence on mitochondria function. In mitochondria diseases, the retina and optic disc are affected, with the typical manifestations of tapeto-retinal degeneration and optic atrophy. Leber hereditary optic neuropathy (LHON) is the most popular mitochondrial retinopathy, with bilateral involvement, characterized by vascular and nervous retinal impairment. In the acute phase the retinal nerve fibers (RNFL) swelling is typically reported, which is later substituted by a RNFL thinning, corresponding to enlargement of centrocecal scotoma and vision impairment. Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy, whose diagnosis is usually made accidentally at a follow up visit. The characteristic aspect of fundus is almost similar to LHON. The natural course could consider a steady situation, a steep worsening or a slow and progressive evolution. In chronic progressive external ophthalmoplegia (CPEO) the posterior segment of the eye is infrequently involved, while the extraocular muscles are the typical targets, leading to ptosis, ocular motility impairment and diplopia. Although many nuclear genes could be responsible of CPEO, a sporadic single deletion in the mtDNA is the most common finding. The typical diagnosis is made following a skeletal muscle biopsy, revealing the characteristic feature “"ragged red fibers". CPEO may show an extremely mild phenotype or being part of a more severe condition, defined Kearns – Sayre syndrome (KSS). The acronym NARP refers to the triad, neurogenic muscle weakness, ataxia and retinitis pigmentosa, which could be found isolated or associated with a severe encephalopathy in the context of maternally inherited Leigh syndrome (MILS). Nowadays, the only approved therapy is the Idebenone, for the treatment of young and adult patients suffering from LHON.
Keywords: Mitochondrial Retinopathies; Leber Hereditary Optic Neuropathy; Autosomal Dominant Optic Atrophy; Chronic Progressive External Ophthalmoplegia; Neurogenic Muscle Weakness; Ataxia And Retinitis Pigmentosa; Idebenone
Citation: Claudia Fossataro., et al. “Eye and Mitochondrial Diseases".Acta Scientific Ophthalmology 6.6 (2023): 07-09.
Copyright: © 2023 Claudia Fossataro., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.