Jesse D Sengillo1,2,3, Winston Lee2, Colleen G Bilancia4, Vaidehi Jobanputra4, Stephen H Tsang5,6,7,8. 1. Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA. 2. Department of Ophthalmology, Columbia University, New York, NY, USA. 3. State University of New York Downstate Medical Center, Brooklyn, NY, USA. 4. Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA. 5. Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA. sht2@columbia.edu. 6. Department of Ophthalmology, Columbia University, New York, NY, USA. sht2@columbia.edu. 7. Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA. sht2@columbia.edu. 8. Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY, USA. sht2@columbia.edu.
Abstract
PURPOSE: To 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. 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 SPATA7 that were predicted to be pathogenic. CONCLUSIONS: Compound 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.
PURPOSE: To 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. 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 SPATA7 that were predicted to be pathogenic. CONCLUSIONS: Compound 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.
Authors: Daphne L McCulloch; Michael F Marmor; Mitchell G Brigell; Ruth Hamilton; Graham E Holder; Radouil Tzekov; Michael Bach Journal: Doc Ophthalmol Date: 2014-12-14 Impact factor: 2.379
Authors: Daphne L McCulloch; Michael F Marmor; Mitchell G Brigell; Ruth Hamilton; Graham E Holder; Radouil Tzekov; Michael Bach Journal: Doc Ophthalmol Date: 2015-08 Impact factor: 2.379
Authors: Jesse D Sengillo; Sally Justus; Yi-Ting Tsai; Thiago Cabral; Stephen H Tsang Journal: Am J Med Genet C Semin Med Genet Date: 2016-11-08 Impact factor: 3.908
Authors: Aiden Eblimit; Thanh-Minh T Nguyen; Yiyun Chen; Julian Esteve-Rudd; Hua Zhong; Stef Letteboer; Jeroen Van Reeuwijk; David L Simons; Qian Ding; Ka Man Wu; Yumei Li; Sylvia Van Beersum; Yalda Moayedi; Huidan Xu; Patrick Pickard; Keqing Wang; Lin Gan; Samuel M Wu; David S Williams; Graeme Mardon; Ronald Roepman; Rui Chen Journal: Hum Mol Genet Date: 2014-11-14 Impact factor: 6.150