Phenotypic Manifestations in Female Carriers of ORF15 Variants Causing X-Linked Cone Dystrophy

What is the phenotype of female carriers of variants that cause X-linked cone dystrophy in hemizygous male individuals?In this case-control study of 11 patients, female carriers with variants causing X-linked cone dystrophy presented with cone dysfunction, predominantly involving the macula, and an absence of peripheral degeneration. A mosaic pattern of reduced retinal sensitivity affected the central 20° on cone-mediated functional testing using microperimetry; this functional deficit was verified with electroretinography testing.A better understanding of the female carrier disease will help identify affected individuals who may be suitable to receive future genetic interventions.

Corresponding Author: Shabnam Raji, BSc, Oxford Eye Hospital, Oxford University Hospitals National Health Service Foundation Trust, Headley Way, Lower Ground 1 West Wing, Oxford OX3 9DU, United Kingdom (shabnam.raji@ndcn.ox.ac.uk).

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