Dataset Information

Short foveo-disc distance in situs inversus of optic disc.

ABSTRACT: Situs inversus of optic disc (SIOD) is thought to be a congenital optic disc abnormality that is caused by dysversion of optic nerve insertion. SIOD, however, has many additional features that cannot be explained by abnormal optic-nerve-insertion directionality. In this study, we measured the distance between the fovea and disc in 22 eyes of 15 SIOD patients. For comparison, two control eyes were matched with each SIOD eye by age and axial length. The vertical distance between the temporal vascular arcades also was measured. The foveo-disc distance was shorter in the SIOD eyes than in the control eyes, while the inter-arcade distance did not differ. Further, we measured the circumpapillary retinal nerve fiber layer thickness, which showed nasal crowding of two humps in the SIOD eyes. This nasal crowding disappeared when we shifted the circle scan by the mean difference (465 ?m) of the foveal-disc distance between the two groups. Our findings suggest that the optic disc was located closer to the fovea than it would have been normally. Thus, SIOD might reflect incomplete expansion of the posterior pole in the direction of the fovea-disc axis.

SUBMITTER: Shin YI

PROVIDER: S-EPMC7576120 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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Short foveo-disc distance in situs inversus of optic disc.

Shin Young In YI Lee Kyoung Min KM Kim Martha M Oh Sohee S Kim Seok Hwan SH

Scientific reports 20201020 1

Situs inversus of optic disc (SIOD) is thought to be a congenital optic disc abnormality that is caused by dysversion of optic nerve insertion. SIOD, however, has many additional features that cannot be explained by abnormal optic-nerve-insertion directionality. In this study, we measured the distance between the fovea and disc in 22 eyes of 15 SIOD patients. For comparison, two control eyes were matched with each SIOD eye by age and axial length. The vertical distance between the temporal vascu ...[more]

PMID: 33082477

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Project description:BackgroundShort-rib thoracic dysplasia 3 with or without polydactyly (SRTD3, OMIM: 613091) is an autosomal recessive disorder. SRTD3 presents clinically with a narrow thorax, short ribs, shortened tubular bones, and acetabular roof abnormalities. Clinical signs of SRTD3 vary among individuals. Pathogenic variants of DYNC2H1 (OMIM: 603297) have been reported to cause SRTD3.MethodsWe performed a detailed clinical prenatal sonographic characterization of a foetus with SRTD3. Trio whole-exome sequencing was used to identify causative variants in the family. The identified variants in the families were validated by Sanger sequencing and mass spectrometry. Multiple computational tools were used to predict the harmfulness of the two variants. A minigene splicing assay was carried out to evaluate the impact of the splice-site variant.ResultsWe evaluated prenatal sonographic images of the foetus with SRTD3, including abnormal rib curvature, narrow thorax, bilateral hypoplastic lungs, bilateral polydactyly, syndactyly, and foetal visceral situs inversus with mirror-image dextrocardia. We revealed novel compound variants of DYNC2H1 (NM_001377.3:c.11483T > G (p.Ile3828Arg) and c.2106 + 3A > T). Various statistical methods predicted that the variants would cause harmful effects on genes or gene products. The minigene assay findings suggested that c.2106 + 3A > T caused the skipping over exon 14, producing an exon 14 loss in the protein.ConclusionThis study identified a foetus with SRTD3 with situs inversus totalis with mirror-image dextrocardia in a Chinese family, revealing two novel compound heterozygous dynein cytoplasmic 2 heavy chain 1 (DYNC2H1) variants, expanding the phenotypic spectrum of SRTD3. The minigene study of c.2106 + 3A > T was predicted to cause an inframe exclusion of exon 14, which was predicted to have important molecular functions. Our findings strongly supported the use of WES in prenatal diagnosis and helped to understand the correlation of genotype and phenotypes of DYNC2H1. The specific sonographic findings and the molecular diagnosis helped add experience to further our expertise in prenatal counselling for SRTD3.

Dataset Information

Short foveo-disc distance in situs inversus of optic disc.

Publications

Short foveo-disc distance in situs inversus of optic disc.

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