Retinal nerve fiber layer thickness variability in Leber hereditary optic neuropathy carriers
| Autor: | Carolina do V. F. Ramos, Solange Rios Salomão, Annamaria De Negri, William J. Feuer, Giacomo Savini, Alfredo A. Sadun, Filipe Chicani, Valerio Carelli, Piero Barboni, Donald L. Budenz, Michele Carbonelli, Vincenzo Parisi |
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| Přispěvatelé: | Studio Oculist dAzeglio, Univ Bologna, IRCCS, Univ Miami, Univ So Calif, Universidade Federal de São Paulo (UNIFESP), Azienda San Camillo Forlanini, P. Barboni, G. Savini, W. J. Feuer, D. L. Budenz, M. Carbonelli, F. Chicani, C. D. V, S. R. Salomao, A. D. Negri, V. Parisi, V. Carelli, A. A. Sadun |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Retinal Ganglion Cells Pathology medicine.medical_specialty LEBER HEREDITARY OPTIC NEUROPATHY Heterozygote genetic structures Adolescent Nerve fiber layer Optic Atrophy Hereditary Leber Retinal nerve fiber layer thickness DNA Mitochondrial chemistry.chemical_compound LHON Young Adult Nerve Fibers Leber's hereditary optic neuropathy Medicine Humans Child Subclinical infection Aged business.industry Retinal Heterozygote advantage General Medicine Organ Size Middle Aged eye diseases mitochondria Ophthalmology medicine.anatomical_structure Retinal nerve fiber layer chemistry Mutation (genetic algorithm) Mutation Female sense organs optic coherence tomography business Leber hereditary optic neuropathy Tomography Optical Coherence |
| Zdroj: | Repositório Institucional da UNIFESP Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
| Popis: | PURPOSE. Recent investigations suggested that unaffected carriers of Leber hereditary optic neuropathy (LHON) may show subclinical visual alterations. Structural changes have also been detected by optical coherence tomography (007), which revealed a temporal thickening of the retinal nerve fiber layer (RNFL). These changes may reflect compensatory effects such as mitochondria accumulation within the RNFL axons. This study aimed to investigate whether the RNFL of LHON carriers shows greater than expected thickness variations, which may reflect transient subclinical changes, over the course of years.METHODS. Using Stratus OCT, the RNFL thickness was measured yearly from 2005 to 2008 in 24 Brazilian LHON carriers, all with homoplasmic 11778/ND4 mtDNA mutation. An Italian sample of 20 healthy subjects served as a control. Data were compared also to a previously published sample (n=59) of glaucomatous eyes.RESULTS. the LHON carriers showed test-retest standard deviations that were larger than normal controls in the temporal (p=0.004), superior (p |
| Databáze: | OpenAIRE |
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