1/5. Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection.PURPOSE: Antiretroviral therapy has reduced the morbidity and mortality associated with human immunodeficiency virus (hiv) infection. However, side effects are increasingly recognized, including a commonly reported toxic mitochondrial myopathy. We report such a case of Leber hereditary optic neuropathy in a patient with antiretroviral therapy for hiv infection and speculate on a possible toxic etiologic role in the development of Leber hereditary optic neuropathy by a shared mitochondrial mechanism. methods: Case Report. Bilateral optic disk abnormalities observed in a 38-year-old hiv positive man with a family history of Leber hereditary optic neuropathy were documented with fundus photography, color vision testing, and visual field testing. Mitochondrial dna testing was used to confirm the genetic predisposition to Leber hereditary optic neuropathy. RESULTS: Progressive bilateral optic nerve pallor temporally associated with the administration of antiretroviral medication was observed. Diagnostic testing revealed progressive visual field and color vision loss as well as a mitochondrial dna mutation consistent with Leber hereditary optic neuropathy. CONCLUSION: Antiretroviral therapy may be associated with the onset of Leber hereditary optic neuropathy in genetically predisposed patients.- - - - - - - - - - ranking = 1keywords = pallor (Clic here for more details about this article) |
2/5. Papillitis as an onset sign of Leber's hereditary optic neuropathy: a case report.Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) dna. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-dna revealed a point mutation at 11778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.- - - - - - - - - - ranking = 1keywords = pallor (Clic here for more details about this article) |
3/5. Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma.OBJECTIVE: In patients with dominant optic atrophy (DOA, Kjer type), excavation of the optic nerve develops, and these patients may be misdiagnosed as having normal tension glaucoma (NTG). This study examined disc morphologic features in patients with DOA and explored features that help distinguish this condition from NTG. DESIGN: Noncomparative, observational case series. PARTICIPANTS: patients with DOA who were seen at the Duke University eye Center between 1987 and 1996 and who had bilateral optic nerve photographs. methods: Retrospective chart review of the results of visual acuity testing, visual field testing by Goldmann perimetry, color vision testing, intraocular pressure measurement, and observation of bilateral optic nerve photographs. MAIN OUTCOME MEASURES: Appearance of the optic disc and peripapillary zone in patients with DOA. RESULTS: Nine patients were identified. The mean age at the time of evaluation was 28 years (range, 11-62 years). Most patients had a mild to moderate reduction in visual acuity. color vision as tested with Hardy-Rand-Rittler plates was reduced (4.0/10 /- 4.2/10). A cup-to-disc ratio of more than 0.5 was observed in at least one eye of eight patients. A temporal wedge-shaped area of excavation was observed in 14 of the 18 eyes studied. Moderate to severe temporal pallor was observed in all of the eyes. pallor of the remaining (noncupped) neuroretinal rim was also observed consistently, ranging from mild to moderate. A gray crescent and some degree of peripapillary atrophy were noted in all eyes. CONCLUSIONS: Several clinical features, including early age of onset, preferential loss of central vision, sparing of the peripheral fields, pallor of the remaining neuroretinal rim, and a family history of unexplained visual loss or optic atrophy, help to distinguish patients with DOA from those with NTG.- - - - - - - - - - ranking = 2keywords = pallor (Clic here for more details about this article) |
4/5. Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss.A 31-year-old man who inexplicably lost vision as a child was referred for evaluation of bilateral optic atrophy. Other family members had also suffered unexplained visual loss. He had asymmetric impairment of visual acuity, central scotomas, and optic disc pallor. He also had a tritan color vision defect and excavation of the temporal portion of his optic discs, two features that were consistent with autosomal dominant optic atrophy. However, examination of the mitochondrial dna of the proband and of two of his relatives revealed a mutation at nucleotide 11778, known to be associated with Leber's hereditary optic neuropathy. This case illustrates the difficulty physicians may encounter when trying to clinically differentiate Leber's from dominant optic atrophy in patients with remote visual loss, and it emphasizes the importance of obtaining a molecular assay for a mitochondrial mutation in cases of ambiguously classified hereditary optic neuropathy.- - - - - - - - - - ranking = 1keywords = pallor (Clic here for more details about this article) |
5/5. Is all nondefinable optic atrophy Leber's hereditary optic neuropathy?Leber's hereditary optic neuropathy has been considered a bilateral, sequential hereditary optic neuropathy occurring overwhelmingly in young men. Until recently the diagnosis has been based on clinical criteria: severe loss of vision associated with central scotomas and classic ophthalmoscopic findings (circumpapillary telangiectatic microangiopathy, pseudoedema of the disk with absence of staining on fluorescein angiography, tortuous vessels in the early stages and eventually optic disk pallor). In 1988 a genetic mutation associated with Leber's hereditary optic neuropathy affecting mitochondrial dna was recognized. Subsequently other mutations have been discovered as well. The ability to identify these patients technically has allowed us to recognize cases that do not fit our previous clinical criteria. One such case is presented and the question asked is whether the findings are related to the clinical course.- - - - - - - - - - ranking = 1keywords = pallor (Clic here for more details about this article) |