Natural History of Conversion of Leber's Hereditary Optic Neuropathy
| Autor: | Tiffany J. Hwang, Solange Rios Salomão, Rubens Belfort, Alfredo A. Sadun, Jesse Gale, Rustum Karanjia, Adriana Berezovsky, Jeffrey Tran, Piero Barboni, Federico Sadun, Peter A. Quiros, Carlos Filipe Chicani, Carolina do V. F. Ramos, Valerio Carelli, Chiara La Morgia, Edward R. Chu, Milton N. Moraes-Filho, M. N. Moraes, A.M. DeNegri |
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| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
Visual acuity genetic structures Nerve fiber layer Optic neuropathy 03 medical and health sciences chemistry.chemical_compound Quadrant (abdomen) 0302 clinical medicine Ophthalmology Medicine Prospective cohort study business.industry Leber's hereditary optic neuropathy Retinal medicine.disease eye diseases medicine.anatomical_structure chemistry Decreased Visual Acuity 030221 ophthalmology & optometry Optometry sense organs medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Ophthalmology. 124:843-850 |
| ISSN: | 0161-6420 |
| DOI: | 10.1016/j.ophtha.2017.01.002 |
| Popis: | Purpose To illustrate the natural history of Leber's hereditary optic neuropathy (LHON). Design Prospective observational case series. Participants The Soave-Brazil pedigree of m.11778G>A/ND4 mitochondrial DNA LHON mutation. Methods A prospectively acquired database of the Soave-Brazil pedigree was reviewed. Data from 285 individuals were included in the database over a 15-year period. The pedigree was reviewed for unaffected mutation carriers who converted to affected status, 6 patients with LHON were identified. The medical records were reviewed 1 year preconversion to 1 year postconversion for visual acuity (logarithm of the minimum angle of resolution [logMAR]), Humphrey Visual Field (HVF) mean deviation (MD), and retinal nerve fiber layer (RNFL) thickness, as measured by Cirrus (Carl Zeiss, Oberkochen, Germany) optic coherence tomography (OCT). The RNFL thickness values were normalized for age. Visual acuity, HVF, and processed RNFL data from each of the 12 eyes were then sorted into 2-month time periods relative to the date of conversion, within which they were averaged. Main Outcome Measures The main outcome measures were visual acuity, HVF MD, and RNFL thickness. Results Decreased visual acuity preceded conversion by up to 2 months and then declined up to 8 months postconversion. Decrease in HVF MD occurred at least 4 months preceding conversion, after which values decreased until plateau at 6 to 8 months. Average RNFL thickness was above normal baseline thickness in all 4 quadrants as measured by OCT at the time of conversion. Increase in RNFL thickness preceded conversion as early as 4 to 6 months, peaked at conversion, and decreased until individual plateaus. The temporal quadrant was first to be involved, then the inferior and superior quadrants, and the nasal quadrant showed the latest and least changes. Conclusions Subclinical changes preceded the date of conversion and may reflect the complicated nature of identifying the date of conversion in LHON. Early increases in RNFL preceding conversion suggest that structural changes precede clinically significant vision loss. Asynchronous quadrant involvement supports a previously published mathematical model. The natural history of LHON is not a subacute process, as previously believed, but progresses more slowly, taking up to 8 months to plateau. |
| Databáze: | OpenAIRE |
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