Dominant Optic Atrophy, Kjer Type

Visual‐Evoked Response, Pattern Electroretinogram, and Psychophysical Magnocellular Thresholds in Glaucoma, Optic Atrophy, and Dyslexia

“…M function is selectively lost in melanoma associated retinopathy and P function in Cuban optic neuropathy 6 and dyspraxia. 7 In OPA1 juvenile-dominant optic atrophy, functional 8 and structural 9 losses are seen in all fiber groups.…”

Visual‐Evoked Response, Pattern Electroretinogram, and Psychophysical Magnocellular Thresholds in Glaucoma, Optic Atrophy, and Dyslexia

“…M function is selectively lost in melanoma associated retinopathy and P function in Cuban optic neuropathy 6 and dyspraxia. 7 In OPA1 juvenile-dominant optic atrophy, functional 8 and structural 9 losses are seen in all fiber groups.…”

Hereditary optic neuropathies

“…100,101 In addition to the cases described by Kjer, 102,103 numerous other studies have established the clinical profile of patients with dominantly inherited optic atrophy. 101,[104][105][106][107][108][109][110][111][112][113] It is generally agreed that dominant optic atrophy (DOA) is an abiotrophy with usual onset in the 1st decade of life. Kjer 102,103 noted that many of his patients were ignorant of the familial nature of their disease and, in fact, did not realize that they, themselves, had visual dysfunction.…”

“…[106][107][108][109][110][111][112] In an analysis of 87 affected patients from 21 molecularly confirmed families with DOA, 111 the mean visual acuity was 20/120. In all studies, a few patients have been found with striking asymmetry between the acuities of the two eyes, and there is considerable interfamilial and intrafamilial variation in acuities.…”

Mapping and genomic characterization of the gene encoding diacylglycerol kinase γ ( DAGK3 ): assessment of its role in dominant optic atrophy ( OPA1 )

“…For haplotype analysis, microsatellite markers at D3S1601 and D3S1265, closely flanking the OPA1 locus, were used (Bonneau et al 1995;Johnston et al 1997). Primer sequences and PCR conditions were taken from the literature.…”

“…1, 2 and 3) are part of multigeneration pedigrees of whom blood samples of several affected and unaffected members were available for genetic linkage analysis. We genotyped all individuals at polymorphic DNA markers at D3S1601 and D3S1265 known to flank the OPA1 candidate region (Bonneau et al 1995;Johnston et al 1997; Fig. 1, Fig.…”

Visual‐Evoked Response, Pattern Electroretinogram, and Psychophysical Magnocellular Thresholds in Glaucoma, Optic Atrophy, and Dyslexia

“…M function is selectively lost in melanoma associated retinopathy and P function in Cuban optic neuropathy 6 and dyspraxia. 7 In OPA1 juvenile-dominant optic atrophy, functional 8 and structural 9 losses are seen in all fiber groups.…”

Hereditary optic neuropathies

“…100,101 In addition to the cases described by Kjer, 102,103 numerous other studies have established the clinical profile of patients with dominantly inherited optic atrophy. 101,[104][105][106][107][108][109][110][111][112][113] It is generally agreed that dominant optic atrophy (DOA) is an abiotrophy with usual onset in the 1st decade of life. Kjer 102,103 noted that many of his patients were ignorant of the familial nature of their disease and, in fact, did not realize that they, themselves, had visual dysfunction.…”

“…[106][107][108][109][110][111][112] In an analysis of 87 affected patients from 21 molecularly confirmed families with DOA, 111 the mean visual acuity was 20/120. In all studies, a few patients have been found with striking asymmetry between the acuities of the two eyes, and there is considerable interfamilial and intrafamilial variation in acuities.…”

Mapping and genomic characterization of the gene encoding diacylglycerol kinase γ ( DAGK3 ): assessment of its role in dominant optic atrophy ( OPA1 )

“…For haplotype analysis, microsatellite markers at D3S1601 and D3S1265, closely flanking the OPA1 locus, were used (Bonneau et al 1995;Johnston et al 1997). Primer sequences and PCR conditions were taken from the literature.…”

“…1, 2 and 3) are part of multigeneration pedigrees of whom blood samples of several affected and unaffected members were available for genetic linkage analysis. We genotyped all individuals at polymorphic DNA markers at D3S1601 and D3S1265 known to flank the OPA1 candidate region (Bonneau et al 1995;Johnston et al 1997; Fig. 1, Fig.…”

Visual‐Evoked Response, Pattern Electroretinogram, and Psychophysical Magnocellular Thresholds in Glaucoma, Optic Atrophy, and Dyslexia

“…M function is selectively lost in melanoma associated retinopathy and P function in Cuban optic neuropathy 6 and dyspraxia. 7 In OPA1 juvenile-dominant optic atrophy, functional 8 and structural 9 losses are seen in all fiber groups.…”

Hereditary optic neuropathies

“…100,101 In addition to the cases described by Kjer, 102,103 numerous other studies have established the clinical profile of patients with dominantly inherited optic atrophy. 101,[104][105][106][107][108][109][110][111][112][113] It is generally agreed that dominant optic atrophy (DOA) is an abiotrophy with usual onset in the 1st decade of life. Kjer 102,103 noted that many of his patients were ignorant of the familial nature of their disease and, in fact, did not realize that they, themselves, had visual dysfunction.…”

“…[106][107][108][109][110][111][112] In an analysis of 87 affected patients from 21 molecularly confirmed families with DOA, 111 the mean visual acuity was 20/120. In all studies, a few patients have been found with striking asymmetry between the acuities of the two eyes, and there is considerable interfamilial and intrafamilial variation in acuities.…”

Mapping and genomic characterization of the gene encoding diacylglycerol kinase γ ( DAGK3 ): assessment of its role in dominant optic atrophy ( OPA1 )

“…For haplotype analysis, microsatellite markers at D3S1601 and D3S1265, closely flanking the OPA1 locus, were used (Bonneau et al 1995;Johnston et al 1997). Primer sequences and PCR conditions were taken from the literature.…”

“…1, 2 and 3) are part of multigeneration pedigrees of whom blood samples of several affected and unaffected members were available for genetic linkage analysis. We genotyped all individuals at polymorphic DNA markers at D3S1601 and D3S1265 known to flank the OPA1 candidate region (Bonneau et al 1995;Johnston et al 1997; Fig. 1, Fig.…”