ArticleDocumenta ophthalmologica. Advances in ophthalmology2018
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Two genes, one culprit - a functional candidate validation of a SPATA7 deletion in dogs with day blindness/retinal degeneration.PLoS genetics · 2025Article
- Cell-cell interaction in the pathogenesis of inherited retinal diseases.Frontiers in cell and developmental biology · 2024Review
- Spectrum, frequency, and genotype-phenotype of mutations inMolecular vision · 2019Article
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Authors and funding
5 authors.
Funding
Abstract
purposeTo report an unusual phenotype of retinitis pigmentosa (RP) caused by compound heterozygous mutations in SPATA7, and describe the progression over a two year follow-up period.
methodsRetrospective case study.
resultsA 63-year-old man with a long history of nyctalopia, progressive visual field constriction, and a recent subacute decrease in visual acuity of the left eye presented for evaluation of a suspected retinal degeneration. Multimodal retinal imaging and functional assessment with full-field electroretinogram suggested a severe rod-cone dysfunction masquerading as a choroideremia-like phenotype. A vitreous opacity was found to explain recent changes in the left eye and a 25-guage vitrectomy and membrane peel was performed, yielding no change in visual acuity. Whole-exome sequencing revealed compound heterozygous variants in SPATA7 that were predicted to be pathogenic.
conclusionsCompound heterozygous c.1100A > G, p.(Y367C) and c.1102_1103delCT, p.(L368Efs*4) variants in SPATA7 manifest as an unusual RP phenotype in this case, showing extensive choroidal sclerosis and retinal pigment epithelium (RPE) atrophy with evidence of progression over two years on multimodal imaging.
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