Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation

Nakamura, Makoto; Miyake, Yoichi

doi:10.1007/s00417-005-0050-3

Cited by 6 publications

(4 citation statements)

References 5 publications

(5 reference statements)

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“…16 All the patients had typical characteristics of ADOA; one patient with an apparently atypical OPA1 gene mutation associated with a negative ERG finding was excluded from this study. 17 The protocol of the study adhered to the tenets of the Declaration of Helsinki and was approved by the Ethics Committee of Nagoya University. Informed consent was obtained from all patients after full explanation of this study.…”

Section: Patientsmentioning

confidence: 99%

Reduction of Oscillatory Potentials and Photopic Negative Response in Patients with Autosomal Dominant Optic Atrophy withOPA1Mutations

Miyata

Nakamura

Kondo

et al. 2007

Invest. Ophthalmol. Vis. Sci.

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Section: Patientsmentioning

confidence: 99%

Reduction of Oscillatory Potentials and Photopic Negative Response in Patients with Autosomal Dominant Optic Atrophy withOPA1Mutations

Miyata

Nakamura

Kondo

et al. 2007

Invest. Ophthalmol. Vis. Sci.

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“…Previous linkage analyses have demonstrated that most families with ADOA were linked to the OPA1 gene, 11,15,16 and Delettre et al 17 detected OPA1 gene mutations in 17 of 19 unrelated cases with a reliable diagnosis of ADOA. To date, approximately 100 different mutations in the gene have been identified in 190 families, 12,13,[17][18][19][20][21][22][23][24][25][26][27] and we have also found OPA1 gene mutations in 11 of 16 Japanese probands with typical clinical characteristics of ADOA. 26 The OPA1 gene is expressed in all tissues examined, but most strongly in the retina and brain.…”

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confidence: 99%

Reduction of Inner Retinal Thickness in Patients with Autosomal Dominant Optic Atrophy Associated withOPA1Mutations

Ito¹,

Nakamura²,

Yamakoshi³

et al. 2007

Invest. Ophthalmol. Vis. Sci.

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PURPOSE.To determine the morphologic changes in the retina in the macula and around the optic disc in patients with autosomal dominant optic atrophy (ADOA) associated with a mutation in the OPA1 gene. METHODS. Cross-sectional images of the macular area of the retina were obtained by optical coherence tomography (OCT) in patients with ADOA who had a heterozygous mutation in the OPA1 gene. There were 15 eyes of eight patients from five families: four men and four women. The average age of the patients was 48.1 years. In the OCT images, the cross sections of the sensory retina were divided manually into four areas. The thickness of the overall sensory retina and the divided areas were measured at 1 and 2 mm on the temporal, nasal, superior, and inferior sides of the fovea as well as at the fovea. The thickness of the retinal nerve fiber layer (RNFL) around the optic discs was measured by taking circular scans (3.4 mm in diameter) centered on the optic disc. The results in the patients with ADOA were compared with those from 11 normal control subjects. RESULTS. The overall thickness of the sensory retina in the macular area was significantly thinner in the patients with ADOA than in the control subjects at all points except the fovea (P Ͻ 0.0001). The RNFL in the macular area in the patients with ADOA was significantly thinner than that in control subjects at all points (P Ͻ 0.0001), especially at 1 mm from the fovea. The circumpapillary RNFL was significantly thinner at the temporal, superior, and inferior areas in patients with ADOA but not in the nasal area. The total cross-sectional area of the circumpapillary RNFL was significantly correlated with visual acuity. The thickness of the combined ganglion cell layer, inner plexiform layer, inner nuclear layer, and outer plexiform layer in the macular area was significantly thinner in the patients (P Ͻ 0.0056). The thickness of the outer nuclear layer and the photoreceptor inner segments and the thickness of the photoreceptor outer segments were not significantly different between the patients with ADOA and normal control subjects. CONCLUSIONS. The RNFL and the layer including the ganglion cell layer are significantly thinner in patients with ADOA associated with an OPA1 gene mutation, whereas the photoreceptor layers are not affected morphologically. The inner retina is the main area of the retina altered in ADOA. (Invest Ophthalmol Vis Sci. 2007;48:4079 -4086)

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“…1a), another diagnosis to consider for the negative ERG in this case is optic atrophy, as there have been two articles that described negative ERGs in patients with autosomal dominant optic atrophy [35,36]. Of the six patients (from four Japanese families) who were described in detail in those reports, all had affected family members, and five showed progressive loss of visual acuity across time.…”

Section: Discussionmentioning

confidence: 85%

“…Their isolated rod-and cone-mediated ERG responses ranged from normal to markedly abnormal. Genetic testing for OPA1 mutations was not available at the time of the first study [35], but one of the two patients of Nakamura and Miyake [36] was found to have a novel mutation in intron 23 of the OPA1 gene, and the authors recommended that 'patients with optic disc atrophy and negative type ERGs should be screened for mutations in the OPA1 gene' ( [36], p. 275). The present patient's sample showed one copy of each of three previously reported polymorphisms [37], but did not show any deleterious mutations in the gene for OPA1.…”

Section: Discussionmentioning

confidence: 97%

A negative electroretinogram (ERG) in a case of probable multiple system atrophy (MSA)

2008

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Recent articles have described negative ERGs in a small number of patients with cerebellar degeneration. Five of the previously reported seven cases were hereditary (2/5 had spinocerebellar ataxia-1 (SCA-1) gene mutations) and the other two were sporadic. We report a negative ERG in a case of cerebellar degeneration that differs significantly from earlier cases. The 65-year-old man had a 5-year history of ataxia, unsteady gait, orthostatic hypotension, and bladder and erectile dysfunction, with no family history of neurological or retinal disease. Visual acuity was 20/30 OD, 20/40 OS, but reportedly was never 20/20. His fundus exam showed optic nerve pallor, but otherwise was normal. Visual fields had enlarged blind spots but no central scotomas. Autofluorescence was normal. Photopic flash and 30-Hz ERG responses were normal. Rod b-waves were reduced and delayed. Standard flash a-waves were normal, but the b-waves were smaller than the a-waves. Blood tests were negative for Leber's hereditary optic neuropathy, dominant optic atrophy, and for expansions in SCA genes including SCA-1. This is only the third reported case of sporadic ataxia with a negative ERG. The patient's prominent autonomic dysfunction differs from the previous cases, and meets the clinical criteria for probable multiple system atrophy (MSA). This introduces another possible diagnosis in cases of negative ERGs with ataxia, and suggests that the visual system may be affected in MSA.

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Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation

Cited by 6 publications

References 5 publications

Reduction of Oscillatory Potentials and Photopic Negative Response in Patients with Autosomal Dominant Optic Atrophy withOPA1Mutations

Reduction of Oscillatory Potentials and Photopic Negative Response in Patients with Autosomal Dominant Optic Atrophy withOPA1Mutations

Reduction of Inner Retinal Thickness in Patients with Autosomal Dominant Optic Atrophy Associated withOPA1Mutations

A negative electroretinogram (ERG) in a case of probable multiple system atrophy (MSA)

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