Distinguishing <i>ABCA4</i> from <i>PRPH2</i> -related disease: qualitative analysis of examination and imaging features

Peripapillary sparing and pisciform flecks are more highly associated with <i>ABCA4</i>-related disease, while macular chorioretinal atrophy is more highly associated with <i>PRPH2</i>-related disease. Logistic regression demonstrates that bull's eye maculopathy and macular flecks are predictive of the <i>ABCA4</i> genotype.

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Publication Details

Journal
Ophthalmic Genetics
Published
2024-11-25
DOI
https://doi.org/10.1080/13816810.2024.2432064
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
0.00
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article

Distinguishing ABCA4 from PRPH2 -related disease: qualitative analysis of examination and imaging features

Tim Becker, Breck Nichols, Roa Sadat, Calvin W. Wong et al.
Ophthalmic Genetics
Connective tissue disorders research
article

Distinguishing ABCA4 from PRPH2 -related disease: qualitative analysis of examination and imaging features

Tim Becker, Breck Nichols, Roa Sadat, Calvin W. Wong, Kenneth C. Fan, David M. Brown, Charles C. Wykoff
article en

Abstract

Peripapillary sparing and pisciform flecks are more highly associated with <i>ABCA4</i>-related disease, while macular chorioretinal atrophy is more highly associated with <i>PRPH2</i>-related disease. Logistic regression demonstrates that bull's eye maculopathy and macular flecks are predictive of the <i>ABCA4</i> genotype.

Ophthalmic GeneticsVol. 46(4)
Methodist Hospital (US), Retina Consultants of Texas (US), Methodist Hospital (US), The University of Texas Health Science Center at Houston (US)
Openalex Percentile: Top 76%
Connective tissue disorders research
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