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- Title
Phenotypic expansion and progression of <italic>SPATA7</italic>-associated retinitis pigmentosa.
- Authors
Sengillo, Jesse D.; Lee, Winston; Bilancia, Colleen G.; Jobanputra, Vaidehi; Tsang, Stephen H.
- Abstract
Purpose: To report an unusual phenotype of retinitis pigmentosa (RP) caused by compound heterozygous mutations in <italic>SPATA7</italic>, and describe the progression over a two year follow-up period.Methods: Retrospective case study.Results: A 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 <italic>SPATA7</italic> that were predicted to be pathogenic.Conclusions: Compound heterozygous c.1100A > G, p.(Y367C) and c.1102_1103delCT, p.(L368Efs*4) variants in <italic>SPATA7</italic> 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.
- Subjects
RETINITIS pigmentosa; NIGHT blindness; RETINAL degeneration; PROGNOSIS; DIAGNOSIS; THERAPEUTICS
- Publication
Documenta Ophthalmologica, 2018, Vol 136, Issue 2, p125
- ISSN
0012-4486
- Publication type
Case Study
- DOI
10.1007/s10633-018-9626-1