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12 Matching Annotations
- Last 7 days
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link.springer.com link.springer.com
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clinical phenotype in the asymptomatic father using multimodal imaging, revisiting the original diagnosis in the sister, and showing non segregation of the ABCA4 variant
Phenotype and segregation info
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CRX
n/a couldnt find
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Segregation analysis in the family revealed that her father (I:2) carried the c.4685 T > C variant, but the proband’s affected sister (II:4) did not, indicating that this ABCA4 variant was not relevant to the macular dystrophy in this family
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The black arrow indicates the proband II:2
affected individuals across two generations
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single previously reported pathogenic variant c.4685 T > C, p.(I1562T) [1], in the proband (II/2, Fig. 3)
Didn't segregate with disease, an affected family member lacks ABCA4 variant.
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anger sequencing was used to screen all 50 exons and approximately 50 base pairs of flanking intronic regions
Sanger sequencing in proband, targeted NGS of a 70 gene retinal degeneration panel
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visual acuities were 6/60 OD and 6/7.5 OS. Fundoscopy revealed bilateral central atrophy, seen clearly on autofluorescence imaging (AF) (Fig. 1a and b). Eight years later AF imaging showed a preserved small central spot of AF, surrounded by a reduced AF signal corresponding to the area of atrophy, which increased in size over time, with a ring of AF. (Fig. 1c-f). Optical coherence tomography (OCT) imaging, 10 years after initial presentation, showed loss of the ellipsoid zone
imaging showing atrophic maculae, Autofluorescence (AF) shows loss of signal centrally corresponding to atrophy with a surrounding band of increased AF within the arcades, optical coherence tomography (OCT) imaging showing the temporal extent of the loss of the ellipsoid zone demarcated, increased atrophy after a 4-year interval. Optos imaging shows increased bilateral macular atrophy, AF imaging shows extension of patchy AF surrounding the central atrophy with a small preserved foveal remnant, OCT showing further extension of the loss of the ellipsoid zone
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A 43-year-old white female
43yo, White, Female
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CRX
CRX
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identified a heterozygous c.121C > T, p.R41W missense mutation in CRX in all 3 affected members
ABCA4
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