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Jacobson SG, McGuigan DB, Sumaroka A, et al. Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations. Invest Ophthalmol Vis Sci. 2016;57(11):4847-4858doi: 10.1167/iovs.16-19890.
Jacobson, S. G., McGuigan, D. B., Sumaroka, A., Roman, A. J., Gruzensky, M. L., Sheplock, R., Palma, J., Schwartz, S. B., Aleman, T. S., & Cideciyan, A. V. (2016). Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations. Investigative ophthalmology & visual science, 57(11), 4847-4858. https://doi.org/10.1167/iovs.16-19890
Jacobson, Samuel G, et al. "Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations." Investigative ophthalmology & visual science vol. 57,11 (2016): 4847-4858. doi: https://doi.org/10.1167/iovs.16-19890
Jacobson SG, McGuigan DB, Sumaroka A, Roman AJ, Gruzensky ML, Sheplock R, Palma J, Schwartz SB, Aleman TS, Cideciyan AV. Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations. Invest Ophthalmol Vis Sci. 2016 Sep 01;57(11):4847-4858. doi: 10.1167/iovs.16-19890. PMID: 27654411; PMCID: PMC5032913.
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Invest Ophthalmol Vis Sci. 2016 Sep 01;57(11):4847-4858. doi: 10.1167/iovs.16-19890.

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.

Investigative ophthalmology & visual science

Samuel G Jacobson, David B McGuigan, Alexander Sumaroka, Alejandro J Roman, Michaela L Gruzensky, Rebecca Sheplock, Judy Palma, Sharon B Schwartz, Tomas S Aleman, Artur V Cideciyan

Affiliations

  1. Scheie Eye Institute Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.

PMID: 27654411 PMCID: PMC5032913 DOI: 10.1167/iovs.16-19890

Abstract

PURPOSE: Previously, patients with RHO mutations and a class A phenotype were found to have severe early-onset loss of rod function, whereas patients with a class B phenotype retained rod function at least in certain retinal regions. Here class B patients were studied at different disease stages to understand the topographic details of the phenotype in preparation for therapies of this regionalized retinopathy.

METHODS: A cohort of patients with RHO mutations and class B phenotype (n = 28; ages 10-80 years) were studied with rod and cone perimetry and optical coherence tomography (OCT).

RESULTS: At least three components of the phenotype were identified in these cross-sectional studies. Patients could have hemifield dysfunction, pericentral loss of function, or a diffuse rod sensitivity loss across the visual field. Combinations of these different patterns were also found. Colocalized photoreceptor layer thicknesses were in agreement with the psychophysical results.

CONCLUSIONS: These disorders with regional retinal variation of severity require pre-evaluations before enrollment into clinical trials to seek answers to questions about where in the retina would be appropriate to deliver focal treatments, and, for retina-wide treatment strategies, where in the retina should be monitored for therapeutic efficacy (or safety).

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