“ The genetic and clinical heterogeneity of inherited retinal dystrophies (IRDs) can make diagnosis and prognosis challenging, requiring full ophthalmologic evaluation, genetic testing, and electrophysiological testing,”...
A classification of more than 2,200 unique variants of the ABCA-4 gene will improve diagnosis and genetic counseling for ABCA4-associated retinopathy, including Stargardt disease, according to results published in Human...
Most domains in the Michigan Retinal Degeneration Questionnaire (MRDQ) strongly associate with visual function in retinitis pigmentosa (RP), according to findings published in Acta Ophthalmologica. Camiel Boon, MD, and...