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. Author manuscript; available in PMC: 2021 Sep 1.
Published in final edited form as: Hum Mutat. 2020 Jul 5;41(9):1528–1539. doi: 10.1002/humu.24065

Figure 1. Variable Expressions within eyeGENE® Family 4 and Participant Diagnoses:

Figure 1

A: Participant 4.1 was enrolled under the preliminary diagnosis of Choroideremia at age 62 years. Age of onset was at 52 years. The participant’s visual acuity was 20/20 OU, with an abnormal, but recordable full-field ERG. B: Participant 4.2 was enrolled under the preliminary diagnosis of Stargardt disease at age 39 years. Age of onset was at 38 years. The participant’s visual acuity was 20/20 OD and 20/40 OS. An ERG was not performed. C: Pedigree of Family 4. Participant 4.3 was enrolled under the preliminary diagnosis of Stargardt disease but did not carry the familial PRPH2 variant c.828+3A>T. D: Percentage of participants by diagnosis category and variant exon location.