AI Article Synopsis
- The study revised a diagnosis of Usher syndrome to PRPS1-associated retinopathy and Charcot-Marie-Tooth disease type 5 in a 38-year-old female with visual and hearing impairments.
- The patient initially had genetic variants linked to Usher syndrome but was found to have additional symptoms like asymmetrical retinopathy and muscle atrophy upon further evaluation.
- The case highlights the importance of correlating genetic testing results with clinical symptoms, suggesting that atypical presentations may require broader diagnostic approaches beyond standard panels.
Article Abstract
Purpose: This study describes how the diagnosis of Usher syndrome was revised to PRPS1-associated retinopathy and Charcot-Marie-Tooth disease type 5.
Case Report: A 38-year-old female with bilaterally subnormal vision and non-congenital hearing loss was initially diagnosed with Usher syndrome, based on finding variants in three genes (MYO7A, USH2A, and PCDH15), was re-evaluated at the inherited retinal disorders clinic. She had asymmetric retinopathy and right macular pseudocoloboma. She was also found to have myopathic facies, poor grip strength and atrophy of the calf muscles. Whole exome sequencing including variants in PRPS1 showed a variant (NM_002764.4:c.287 G > A; p.Arg96Gln), which was not detected by targeted Sanger sequencing of the DNA from her mother and sister.
Conclusion: The constellation of asymmetric retinopathy and non-congenital hearing impairment should prompt the clinician to search for other diagnoses that may not be covered by an Usher syndrome next generation sequencing panel. Interpretation of genetic testing results should be correlated with a detailed clinical phenotype.
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| http://dx.doi.org/10.1080/13816810.2024.2321871 | DOI Listing |
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