nach oben

Documenta Ophthalmologica

Erschienen in:

06.02.2018 | Clinical Case Report

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa

verfasst von: Jesse D. Sengillo, Winston Lee, Colleen G. Bilancia, Vaidehi Jobanputra, Stephen H. Tsang

Erschienen in: Documenta Ophthalmologica | Ausgabe 2/2018

Einloggen, um Zugang zu erhalten

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.

Sengillo JD, Justus S, Cabral T, Tsang SH (2017) Correction of monogenic and common retinal disorders with gene therapy. Genes (Basel). https://doi.org/10.3390/genes8020053

Sengillo JD, Justus S, Tsai YT, Cabral T, Tsang SH (2016) Gene and cell-based therapies for inherited retinal disorders: an update. Am J Med Genet C Semin Med Genet 172(4):349–366. https://doi.org/10.1002/ajmg.c.31534 CrossRefPubMed

Berson EL (1993) Retinitis pigmentosa. the Friedenwald Lecture. Invest Ophthalmol Vis Sci 34(5):1659–1676PubMed

Hamel C (2006) Retinitis pigmentosa. Orphanet J Rare Dis 1:40. https://doi.org/10.1186/1750-1172-1-40 CrossRefPubMedPubMedCentral

Broadgate S, Yu J, Downes SM, Halford S (2017) Unravelling the genetics of inherited retinal dystrophies: past, present and future. Prog Retin Eye Res. https://doi.org/10.1016/j.preteyeres.2017.03.003 PubMed

Zhang X, Liu H, Zhang Y, Qiao Y, Miao S, Wang L, Zhang J, Zong S, Koide SS (2003) A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis. J Mol Med (Berl) 81(6):380–387. https://doi.org/10.1007/s00109-003-0434-y CrossRef

Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R (2015) Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet 24(6):1584–1601. https://doi.org/10.1093/hmg/ddu573 CrossRefPubMed

Zhong H, Eblimit A, Moayedi Y, Boye SL, Chiodo VA, Chen Y, Li Y, Nichols RM, Hauswirth WW, Chen R, Mardon G (2015) AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. Gene Ther 22(8):619–627. https://doi.org/10.1038/gt.2015.42 CrossRefPubMedPubMedCentral

Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT (2011) Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. Invest Ophthalmol Vis Sci 52(6):3032–3038. https://doi.org/10.1167/iovs.10-7025 CrossRefPubMed

10.

Perrault I, Hanein S, Gerard X, Delphin N, Fares-Taie L, Gerber S, Pelletier V, Merce E, Dollfus H, Puech B, Defoort-Dhellemmes S, Petersen MD, Zafeiriou D, Munnich A, Kaplan J, Roche O, Rozet JM (2010) Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat 31(3):E1241–E1250. https://doi.org/10.1002/humu.21203 CrossRefPubMed

11.

Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R (2009) Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet 84(3):380–387. https://doi.org/10.1016/j.ajhg.2009.02.005 CrossRefPubMedPubMedCentral

12.

Mayer AK, Mahajnah M, Zobor D, Bonin M, Sharkia R, Wissinger B (2015) Novel homozygous large deletion including the 5’ part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family. Mol Vis 21:306–315PubMedPubMedCentral

13.

McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach M (2015) Erratum to: ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 131(1):81–83. https://doi.org/10.1007/s10633-015-9504-z CrossRefPubMed

14.

McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach M (2015) ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 130(1):1–12. https://doi.org/10.1007/s10633-014-9473-7 CrossRefPubMed

15.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Laboratory Quality Assurance Committee ACMG (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30 CrossRefPubMedPubMedCentral

16.

Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA (2015) Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible and more sensitive for variant detection than exome sequencing. Genet Med 17(4):253–261. https://doi.org/10.1038/gim.2014.172 CrossRefPubMed

17.

Berson EL (2007) Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture. Exp Eye Res 85(1):7–14. https://doi.org/10.1016/j.exer.2007.03.001 CrossRefPubMedPubMedCentral

18.

Parmeggiani F, Sato G, De Nadai K, Romano MR, Binotto A, Costagliola C (2011) Clinical and rehabilitative management of retinitis pigmentosa: up-to-date. Curr Genom 12(4):250–259. https://doi.org/10.2174/138920211795860125 CrossRef

19.

Ma KK, Lin J, Boudreault K, Chen RW, Tsang SH (2017) Phenotyping choroideremia and its carrier state with multimodal imaging techniques. Retin Cases Brief Rep 11(Suppl 1):S178–S181. https://doi.org/10.1097/ICB.0000000000000419 CrossRefPubMedPubMedCentral

20.

Jayasundera T, Branham KEH, Othman M, Rhoades WR, Karoukis AJ, Khanna H, Swaroop A, Heckenlively JR (2010) The RP2 phenotype and pathogenic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol 128(7):915–923. https://doi.org/10.1001/archophthalmol.2010.122 CrossRefPubMedPubMedCentral

Titel: Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa
verfasst von: Jesse D. Sengillo
Winston Lee
Colleen G. Bilancia
Vaidehi Jobanputra
Stephen H. Tsang
Publikationsdatum: 06.02.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: Documenta Ophthalmologica / Ausgabe 2/2018
Print ISSN: 0012-4486
Elektronische ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-018-9626-1

Neu im Fachgebiet Augenheilkunde

08.04.2024 | Therapieverfahren in der Augenheilkunde | CME

Update Augenheilkunde

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa

Abstract

Purpose

Methods

Results

Conclusions

Neu im Fachgebiet Augenheilkunde

Ophthalmika in der Schwangerschaft

Operative Therapie und Keimnachweis bei endogener Endophthalmitis

Bakterielle endogene Endophthalmitis

Bestmögliche Wundheilung der Kornea dank optimaler pharmakologischer Therapie

Update Augenheilkunde

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

Purpose

Methods

Results

Conclusions

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 2/2018

Comparison between albino and pigmented rabbit ERGs

Bilateral vision loss due to Leber’s hereditary optic neuropathy after long-term alcohol, nicotine and drug abuse

Retinal findings in a patient of French ancestry with CABP4-related retinal disease

Correction to: ISCEV Standard for clinical electro-oculography (2017 update)

Comparison between multifocal ERG and C-Scan SD-OCT (“en face” OCT) in patients with a suspicion of antimalarial retinal toxicity: preliminary results

Neu im Fachgebiet Augenheilkunde

Ophthalmika in der Schwangerschaft

Operative Therapie und Keimnachweis bei endogener Endophthalmitis

Bakterielle endogene Endophthalmitis

Bestmögliche Wundheilung der Kornea dank optimaler pharmakologischer Therapie

Update Augenheilkunde