Hereditary optic neuropathies

Newman, Nancy J.; Biousse, Valérie

doi:10.1038/sj.eye.6701591

Cited by 153 publications

(107 citation statements)

References 164 publications

(281 reference statements)

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“…Leber's optic neuropathy (LHON) is a hereditary optic nerve condition that predominately occurs in young men [84]. The visual loss in LHON is painless, providing an important distinction from demyelinating ON.…”

Section: Leber's Hereditary Optic Neuropathymentioning

confidence: 99%

Optical Coherence Tomography (OCT): Imaging the Visual Pathway as a Model for Neurodegeneration

et al. 2011

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Summary: Axonal and neuronal degeneration are important features of multiple sclerosis (MS) and other neurologic disorders that affect the anterior visual pathway. Optical coherence tomography (OCT) is a non-invasive technique that allows imaging of the retinal nerve fiber layer (RNFL), a structure which is principally composed of ganglion cell axons that form the optic nerves, chiasm, and optic tracts. Since retinal axons are nonmyelinated until they penetrate the lamina cribrosa, the RNFL is an ideal structure (no other central nervous system tract has this unique arrangement) for visualizing the processes of neurodegeneration, neuroprotection and, potentially, even neuro-repair. OCT is capable of providing high-resolution reconstructions of retinal anatomy in a rapid and reproducible fashion and permits objective analysis of the RNFL (axons) as well as ganglion cells and other neurons in the macula. In a systematic OCT examination of multiple sclerosis (MS) patients, RNFL thickness and macular volumes are reduced when compared to disease-free controls.Conspicuously, these changes, which signify disorganization of retinal structural architecture, occur over time even in the absence of a history of acute demyelinating optic neuritis. RNFL axonal loss in MS is most severe in those eyes with a corresponding reduction in low-contrast letter acuity (a sensitive vision test involving the perception of gray letters on a white background) and in those patients who exhibit the greatest magnitude of brain atrophy, as measured by validated magnetic resonance imaging techniques. These unique structure-function correlations make the anterior visual pathway an ideal model for investigating the effects of standard and novel therapies that target axonal and neuronal degeneration. We provide an overview of the physics of OCT, its unique properties as a non-invasive imaging technique, and its potential applications toward understanding mechanisms of brain tissue injury in MS, other optic neuropathies, and neurologic disorders.

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Section: Leber's Hereditary Optic Neuropathymentioning

confidence: 99%

Optical Coherence Tomography (OCT): Imaging the Visual Pathway as a Model for Neurodegeneration

et al. 2011

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“…Impairment of colour vision usually includes changes in the blue-yellow axis or tritanopia (3,12) , but it can also present as nonspecific generalised impairment (12,15) , as was the case in our patient.…”

Section: Discussionmentioning

confidence: 76%

“…The degree of optic disc atrophy also varies within and between families (13) . The atrophy can be mild, affecting the temporal side with triangular cupping, or diffuse, involving the entire optic nerve (7,13) .…”

Section: Discussionmentioning

confidence: 99%

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Neuropatia óptica dominante associada à hipoacusia e apresentação tardia

Buscacio¹,

Silva²,

Yamane

2013

Rev. bras.oftalmol.

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RESUMOA neuropatia óptica de Kjer, ou atrofia óptica dominante, é a mais frequente das neuropatias ópticas familiares. Trata-se de uma atrofia óptica de caráter autossômico dominante que se dá por uma alteração no gene OPA1, no cromossomo 3q28, com penetrância de 98% Apenas 15% dos casos possuem acuidade visual de 0,1 ou pior, apresentando ainda diferentes graus de atrofia do disco. Este relato objetiva descrever as características genéticas e clínicas da doença, bem como apresentar medidas de aconselhamento familiar. Para isso, será relatado um caso clínico de atrofia óptica dominante no qual se constata perda acentuada da acuidade visual, início de manifestações atipicamente tardias e hipoacusia bilateral.Descritores: Atrofia óptica autossômica dominante/genética; Surdez; Defeitos da visão cromática; Aconselhamento genético; Relatos de caso ABSTRACT The optic neuropathy of Kjer, or dominant optic atrophy, is the most common among optic neuropathies. iI is an optical atrophy of dominant autosomal character that is caused by an alteration in the gene

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“…In LHON, individuals harboring the 11778A mtDNA mutation have a higher penetrance and a lower spontaneous visual recovery rate than the other two common LHON mtDNA mutations 3460A and 14484C. 20 In ADOA for example, penetrance associated with the OPA1 exon 12 c.1212ϩ1GϾT splicing mutation is 100%, yet is only 43% in families with the c.2708 del(TTAG) exon 27 mutation. 5,15 Interestingly, the c.2708del(TTAG) variant has been found in a number of independent ADOA families, thus representing one of the few recurrent OPA1 variants associated with optic atrophy.…”

mentioning

confidence: 99%

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy

Han¹,

Thompson-Lowrey²,

Reiss³

et al. 2006

Genetics in Medicine

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Purpose: Autosomal dominant optic atrophy is a form of blindness, due in part to mutations affecting the mitochondrial-targeted OPA1 gene product. Both OPA1-positive and OPA1-negative families exhibit variable expressivity and incomplete penetrance. The purpose of this study was therefore to determine if the background mtDNA genotype acts as a genetic modifier for the expression of this disease. Methods: To find novel pathogenic OPA1 mutations, we performed complete OPA1 gene exon sequencing in 30 patients. To assess the possibility that mitochondrial DNA haplotype acts as a genetic modifier, we determined the mitochondrial DNA haplotype in 29Caucasian OPA1-positive and OPA1-negative patients. Deviations in haplotype distribution between patient and control groups were determined by statistical means. Results: Seven new pathogenic OPA1 mutations were found.Most were detected in the mitochondrial targeting N-terminus or in the coiled-coil domain at the C-terminus.Mitochondrial DNA haplotype analysis indicated that the European haplogroup distribution was different between Caucasian patients and controls. Further, haplogroup J was three-fold over-represented in OPA1-negative patients.Conclusions: Overall, our results support haploinsufficiency as a genetic mechanism in OPA1-positive cases and also suggest that mtDNA genetic background may influence disease expression in a subset of cases. Genet Med 2006:8(4):217-225.

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Hereditary optic neuropathies

Cited by 153 publications

References 164 publications

Optical Coherence Tomography (OCT): Imaging the Visual Pathway as a Model for Neurodegeneration

Optical Coherence Tomography (OCT): Imaging the Visual Pathway as a Model for Neurodegeneration

Neuropatia óptica dominante associada à hipoacusia e apresentação tardia

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy

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