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Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature

Thierry Derveaux (UGent) , Patricia Delbeke, SOPHIE WALRAEDT (UGent) , Ann Raes (UGent) , Steven Van Laecke (UGent) , Bart Leroy (UGent) and Julie De Zaeytijd (UGent)
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Abstract
PURPOSE: To describe the structural and functional characteristics of oxalate retinopathy. METHODS: Five patients with molecularly confirmed primary hyperoxaluria (PH) Type 1 underwent multimodal retinal imaging (spectral-domain optical coherence tomography, white light, and HRA multispectral imaging) and functional testing, including color vision testing, Goldmann perimetry, and International Society for Clinical Electrophysiology of Vision standard electrophysiological testing. RESULTS: Four distinct retinal phenotypes are presented. One patient with a c.[33dupC]; c.[731T>C] mutation showed bilateral perifoveal retinal pigment epithelium hyperplasia. The fundus in the four other patients, all of whom share an identical homozygous c.[33dupC] mutation, ranged from normal to bilateral widespread distribution of retinal crystals and confluent macular retinal pigment epithelium hyperplasia with subfoveal fibrosis. All patients who had developed end-stage renal disease showed some sign of retinopathy, more severe with earlier onset. CONCLUSION: Retinopathy in PH Type 1 shows considerable interindividual variation. No correlation between genotype and retinal phenotype was detected. Oxalate crystals at the level of the retinal pigment epithelium seem to be irreversible. A proposed clinical grading system of oxalate maculopathy, based on a literature review, may provide clinicians with a tool to better predict visual function and prognosis.
Keywords
crystalline retinopathy, oxalate maculopathy, oxalate retinopathy, oxalosis, primary hyperoxaluria, secondary hyperoxaluria, PRIMARY OXALOSIS, RETINAL OXALOSIS, CRYSTALLINE RETINOPATHY, OCULAR INVOLVEMENT, FLECKED RETINA, TRANSPLANTATION, MANIFESTATIONS

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Chicago
Derveaux, Thierry, Patricia Delbeke, SOPHIE WALRAEDT, Ann Raes, Steven Van Laecke, Bart Leroy, and Julie De Zaeytijd. 2016. “Detailed Clinical Phenotyping of Oxalate Maculopathy in Primary Hyperoxaluria Type 1 and Review of the Literature.” Retina-the Journal of Retinal and Vitreous Diseases 36 (11): 2227–2235.
APA
Derveaux, T., Delbeke, P., WALRAEDT, S., Raes, A., Van Laecke, S., Leroy, B., & De Zaeytijd, J. (2016). Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 36(11), 2227–2235.
Vancouver
1.
Derveaux T, Delbeke P, WALRAEDT S, Raes A, Van Laecke S, Leroy B, et al. Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 2016;36(11):2227–35.
MLA
Derveaux, Thierry et al. “Detailed Clinical Phenotyping of Oxalate Maculopathy in Primary Hyperoxaluria Type 1 and Review of the Literature.” RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES 36.11 (2016): 2227–2235. Print.
@article{8084797,
  abstract     = {PURPOSE: To describe the structural and functional characteristics of oxalate retinopathy.
METHODS: Five patients with molecularly confirmed primary hyperoxaluria (PH) Type 1 underwent multimodal retinal imaging (spectral-domain optical coherence tomography, white light, and HRA multispectral imaging) and functional testing, including color vision testing, Goldmann perimetry, and International Society for Clinical Electrophysiology of Vision standard electrophysiological testing.
RESULTS: Four distinct retinal phenotypes are presented. One patient with a c.[33dupC]; c.[731T>C] mutation showed bilateral perifoveal retinal pigment epithelium hyperplasia. The fundus in the four other patients, all of whom share an identical homozygous c.[33dupC] mutation, ranged from normal to bilateral widespread distribution of retinal crystals and confluent macular retinal pigment epithelium hyperplasia with subfoveal fibrosis. All patients who had developed end-stage renal disease showed some sign of retinopathy, more severe with earlier onset.
CONCLUSION: Retinopathy in PH Type 1 shows considerable interindividual variation. No correlation between genotype and retinal phenotype was detected. Oxalate crystals at the level of the retinal pigment epithelium seem to be irreversible. A proposed clinical grading system of oxalate maculopathy, based on a literature review, may provide clinicians with a tool to better predict visual function and prognosis.},
  author       = {Derveaux, Thierry and Delbeke, Patricia and WALRAEDT, SOPHIE and Raes, Ann and Van Laecke, Steven and Leroy, Bart and De Zaeytijd, Julie},
  issn         = {0275-004X},
  journal      = {RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES},
  keywords     = {crystalline retinopathy,oxalate maculopathy,oxalate retinopathy,oxalosis,primary hyperoxaluria,secondary hyperoxaluria,PRIMARY OXALOSIS,RETINAL OXALOSIS,CRYSTALLINE RETINOPATHY,OCULAR INVOLVEMENT,FLECKED RETINA,TRANSPLANTATION,MANIFESTATIONS},
  language     = {eng},
  number       = {11},
  pages        = {2227--2235},
  title        = {Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature},
  volume       = {36},
  year         = {2016},
}

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