Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa
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.
Retrospective case study.
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.
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.
KeywordsSPATA7 Retinitis pigmentosa Choroidal sclerosis
JDS and WL collected and interpreted patient data and images, and composed the manuscript. CGB and VJ performed and interpreted genetic analyses. SHT conceived the experimental design and approved the final interpretation of the data.
Jonas Children’s Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory are supported by the National Institutes of Health (5P30EY019007, R01EY018213, R01EY024698, R01EY026682, R21AG050437), National Cancer Institute Core (5P30CA013696), the Research to Prevent Blindness (RPB) Physician-Scientist Award, unrestricted funds from RPB, New York, NY, USA. J.D.S is supported by the RPB Medical Student Eye Research Fellowship. S.H.T. is a member of the RD-CURE Consortium and is supported by the Tistou and Charlotte Kerstan Foundation, the Schneeweiss Stem Cell Fund, New York State (C029572), the Foundation Fighting Blindness New York Regional Research Center Grant (C-NY05-0705-0312), the Crowley Family Fund, and the Gebroe Family Foundation.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflicts of interest.
The data presented in this study, including images and genetic testing results, are not identifiable to individual patients. For this type of study, formal consent is not required.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. Research involving the use of animals was not performed in this study.
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