Retinal Ganglion Cell Dysfunction in Asymptomatic G11778A: Leber Hereditary Optic Neuropathy
| Autor: | Joyce C. Schiffman, Byron L. Lam, Ruth Vandenbroucke, William J. Feuer, John Guy, Potyra R. Rosa, Vittorio Porciatti, Fawzi Abukhalil |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Retinal Ganglion Cells Heterozygote medicine.medical_specialty Visual acuity genetic structures Vision Disorders Visual Acuity Optic Atrophy Hereditary Leber DNA Mitochondrial Polymerase Chain Reaction Asymptomatic Young Adult Retinal Diseases Ophthalmology Electroretinography Humans Medicine Optic neuritis Subclinical infection medicine.diagnostic_test business.industry Articles Diabetic retinopathy Anatomy Middle Aged medicine.disease eye diseases Visual field Mutation Female sense organs Visual Fields medicine.symptom business Asymptomatic carrier Tomography Optical Coherence |
| Zdroj: | Investigative Opthalmology & Visual Science. 55:841 |
| ISSN: | 1552-5783 |
| Popis: | Purpose To report the serial evaluation of asymptomatic eyes of subjects with mutated G11778A mitochondrial DNA. Methods Forty-five asymptomatic G11778A Leber hereditary optic neuropathy (LHON) carriers and two patients with the mutation who developed unilateral visual loss underwent testing that included visual acuity, automated visual field, pattern electroretinogram (PERG), and spectral-domain optical coherence tomography every 6 months between September 2008 and March 2012. Results Visual acuity, visual fields, and retinal nerve fiber layer thickness remained stable within the normal range. Mean PERG amplitudes of carriers dropped progressively by ∼ 40% from baseline to 36 months. In addition, comparisons with the fellow eyes of patients with unilateral optic neuritis revealed a 3.4 ETDRS (Early Treatment Diabetic Retinopathy Study) letter loss in the LHON carriers. A single carrier developed visual loss, with PERG amplitudes dropping by half. In one of two LHON cases who presented with unilateral visual loss, visual acuity in the asymptomatic eye was ∼ 20/40 at baseline. The PERG amplitude of this eye was reduced to ∼ 30% of normal. Six months later, his visual acuity had dropped to ∼ 20/500. A second patient who was ∼ 20/20 and had a visual field defect in the asymptomatic eye at baseline remained at this level for the 18 months of follow-up. His PERG amplitudes were similar to those of asymptomatic carriers, with 0.78 μV at baseline that did not decline with follow-up. Conclusions Declines of the PERG amplitude suggest subclinical retinal ganglion cell dysfunction in asymptomatic G11778A subjects, which is progressive. |
| Databáze: | OpenAIRE |
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