< em > PRPS1 < /em > -associated retinopathy: a diagnostic odyssey

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.PMID:38619019 | DOI:10.1080/13816810.2024.2321871
Source: Ophthalmic Genetics - Category: Opthalmology Authors: Source Type: research