The ocular phenotype in primary hyperoxaluria type 1

Johannes Birtel; Philipp Herrmann; Sander F Garrelfs; Simon Dulz; Yevgeniya Atiskova; Roselie M Diederen; Martin Gliem; Florian Brinkert; Frank G Holz; Camiel J F Boon; Bernd Hoppe; Peter Charbel Issa

doi:10.1016/j.ajo.2019.04.036

The ocular phenotype in primary hyperoxaluria type 1

Standard

The ocular phenotype in primary hyperoxaluria type 1. / Birtel, Johannes; Herrmann, Philipp; Garrelfs, Sander F; Dulz, Simon; Atiskova, Yevgeniya; Diederen, Roselie M; Gliem, Martin; Brinkert, Florian; Holz, Frank G; Boon, Camiel J F; Hoppe, Bernd; Issa, Peter Charbel.

in: AM J OPHTHALMOL, Jahrgang 206, 10.2019, S. 184-191.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Birtel, J, Herrmann, P, Garrelfs, SF, Dulz, S, Atiskova, Y, Diederen, RM, Gliem, M, Brinkert, F, Holz, FG, Boon, CJF, Hoppe, B & Issa, PC 2019, 'The ocular phenotype in primary hyperoxaluria type 1', AM J OPHTHALMOL, Jg. 206, S. 184-191. https://doi.org/10.1016/j.ajo.2019.04.036

APA

Birtel, J., Herrmann, P., Garrelfs, S. F., Dulz, S., Atiskova, Y., Diederen, R. M., Gliem, M., Brinkert, F., Holz, F. G., Boon, C. J. F., Hoppe, B., & Issa, P. C. (2019). The ocular phenotype in primary hyperoxaluria type 1. AM J OPHTHALMOL, 206, 184-191. https://doi.org/10.1016/j.ajo.2019.04.036

Vancouver

Birtel J, Herrmann P, Garrelfs SF, Dulz S, Atiskova Y, Diederen RM et al. The ocular phenotype in primary hyperoxaluria type 1. AM J OPHTHALMOL. 2019 Okt;206:184-191. https://doi.org/10.1016/j.ajo.2019.04.036

Bibtex

@article{8fb9b8a1af584209a5408fdde698975c,

title = "The ocular phenotype in primary hyperoxaluria type 1",

abstract = "PURPOSE: To investigate ophthalmic features in a large group of patients with primary hyperoxaluria type 1 (PH1) and to determine the relation between ocular involvement and systemic disease severity.DESIGN: Retrospective, cross-sectional, multicenter study of the OxalEurope Registry Network.METHODS: Sixty-eight patients with PH1 were included. Infantile PH1 was diagnosed in 12 patients, and non-infantile PH1 was diagnosed in 56 patients (17 with end-stage renal disease). Ophthalmic examination included best corrected visual acuity (BCVA) testing and multimodal retinal imaging, including fundus photography and optical coherence tomography (OCT). In selected cases, fundus autofluorescence imaging was performed.RESULTS: All eyes (n = 24) of infantile PH1 patients revealed severe retinal alterations and oxalate deposits, including macular crystals and hyperpigmentations (n = 9, 38%), and subretinal fibrosis (n = 15, 63%) with (n = 7, 47%) or without (n = 8; 53%) associated chronic retinal edema. In 9 eyes (38%, all with subretinal fibrosis), BCVA was significantly reduced (<20/50 Snellen equivalent). In contrast, all eyes (n = 112) of patients with non-infantile PH1 had a BCVA in the normal range (median, 20/20). Only 6 patients with non-infantile disease (11%, all with end-stage renal disease) showed mild, likely PH1-related retinal features. These deposits appeared as focal hyperreflective subretinal lesions on OCT imaging and were hyperautofluorescent on autofluorescence images.CONCLUSIONS: Severe ocular alterations occur in infantile cases, whereas mild or no ocular alterations are typical in non-infantile PH1 patients. The natural history of (sub)retinal oxalate deposits, the pathogenesis of subretinal fibrosis, and exact factors influencing the overall severity of ocular disease manifestation remain to be determined.",

keywords = "Journal Article",

author = "Johannes Birtel and Philipp Herrmann and Garrelfs, {Sander F} and Simon Dulz and Yevgeniya Atiskova and Diederen, {Roselie M} and Martin Gliem and Florian Brinkert and Holz, {Frank G} and Boon, {Camiel J F} and Bernd Hoppe and Issa, {Peter Charbel}",

year = "2019",

month = oct,

doi = "10.1016/j.ajo.2019.04.036",

language = "English",

volume = "206",

pages = "184--191",

journal = "AM J OPHTHALMOL",

issn = "0002-9394",

publisher = "Elsevier USA",

}

RIS

TY - JOUR

T1 - The ocular phenotype in primary hyperoxaluria type 1

AU - Birtel, Johannes

AU - Herrmann, Philipp

AU - Garrelfs, Sander F

AU - Dulz, Simon

AU - Atiskova, Yevgeniya

AU - Diederen, Roselie M

AU - Gliem, Martin

AU - Brinkert, Florian

AU - Holz, Frank G

AU - Boon, Camiel J F

AU - Hoppe, Bernd

AU - Issa, Peter Charbel

PY - 2019/10

Y1 - 2019/10

N2 - PURPOSE: To investigate ophthalmic features in a large group of patients with primary hyperoxaluria type 1 (PH1) and to determine the relation between ocular involvement and systemic disease severity.DESIGN: Retrospective, cross-sectional, multicenter study of the OxalEurope Registry Network.METHODS: Sixty-eight patients with PH1 were included. Infantile PH1 was diagnosed in 12 patients, and non-infantile PH1 was diagnosed in 56 patients (17 with end-stage renal disease). Ophthalmic examination included best corrected visual acuity (BCVA) testing and multimodal retinal imaging, including fundus photography and optical coherence tomography (OCT). In selected cases, fundus autofluorescence imaging was performed.RESULTS: All eyes (n = 24) of infantile PH1 patients revealed severe retinal alterations and oxalate deposits, including macular crystals and hyperpigmentations (n = 9, 38%), and subretinal fibrosis (n = 15, 63%) with (n = 7, 47%) or without (n = 8; 53%) associated chronic retinal edema. In 9 eyes (38%, all with subretinal fibrosis), BCVA was significantly reduced (<20/50 Snellen equivalent). In contrast, all eyes (n = 112) of patients with non-infantile PH1 had a BCVA in the normal range (median, 20/20). Only 6 patients with non-infantile disease (11%, all with end-stage renal disease) showed mild, likely PH1-related retinal features. These deposits appeared as focal hyperreflective subretinal lesions on OCT imaging and were hyperautofluorescent on autofluorescence images.CONCLUSIONS: Severe ocular alterations occur in infantile cases, whereas mild or no ocular alterations are typical in non-infantile PH1 patients. The natural history of (sub)retinal oxalate deposits, the pathogenesis of subretinal fibrosis, and exact factors influencing the overall severity of ocular disease manifestation remain to be determined.

AB - PURPOSE: To investigate ophthalmic features in a large group of patients with primary hyperoxaluria type 1 (PH1) and to determine the relation between ocular involvement and systemic disease severity.DESIGN: Retrospective, cross-sectional, multicenter study of the OxalEurope Registry Network.METHODS: Sixty-eight patients with PH1 were included. Infantile PH1 was diagnosed in 12 patients, and non-infantile PH1 was diagnosed in 56 patients (17 with end-stage renal disease). Ophthalmic examination included best corrected visual acuity (BCVA) testing and multimodal retinal imaging, including fundus photography and optical coherence tomography (OCT). In selected cases, fundus autofluorescence imaging was performed.RESULTS: All eyes (n = 24) of infantile PH1 patients revealed severe retinal alterations and oxalate deposits, including macular crystals and hyperpigmentations (n = 9, 38%), and subretinal fibrosis (n = 15, 63%) with (n = 7, 47%) or without (n = 8; 53%) associated chronic retinal edema. In 9 eyes (38%, all with subretinal fibrosis), BCVA was significantly reduced (<20/50 Snellen equivalent). In contrast, all eyes (n = 112) of patients with non-infantile PH1 had a BCVA in the normal range (median, 20/20). Only 6 patients with non-infantile disease (11%, all with end-stage renal disease) showed mild, likely PH1-related retinal features. These deposits appeared as focal hyperreflective subretinal lesions on OCT imaging and were hyperautofluorescent on autofluorescence images.CONCLUSIONS: Severe ocular alterations occur in infantile cases, whereas mild or no ocular alterations are typical in non-infantile PH1 patients. The natural history of (sub)retinal oxalate deposits, the pathogenesis of subretinal fibrosis, and exact factors influencing the overall severity of ocular disease manifestation remain to be determined.

KW - Journal Article

U2 - 10.1016/j.ajo.2019.04.036

DO - 10.1016/j.ajo.2019.04.036

M3 - SCORING: Journal article

C2 - 31078535

VL - 206

SP - 184

EP - 191

JO - AM J OPHTHALMOL

JF - AM J OPHTHALMOL

SN - 0002-9394

ER -