Inherited Retinal Diseases

Most female carriers of IRDs feel anxiety for their children’s well-being

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There is a critical need for comprehensive support and counseling for female carriers of X-linked inherited retinal diseases (IRDs), according to a study that highlights the emotional burden carried by these carriers, including feelings of guilt, concern, and anxiety for their children.

The study also emphasizes the importance of providing accurate information about genetic testing and emerging treatments like gene therapy.

The study included 228 self-identified carriers from the United States of America (51%), Australia (19%), and the United Kingdom (14%). Most respondents voiced a prevailing sense of guilt (70%), concern (91%), and anxiety (88%) regarding their children’s well-being. Notably, carriers who had given birth to children demonstrated significantly greater knowledge about gene therapy in comparison to those who had not.

The study found that eyecare providers and general practitioners played pivotal roles in helping carriers comprehend their condition, as attested by 63% of respondents. However, a minority reported receiving psychological counseling (9%) or family planning advice (5%). This underscores the need for a comprehensive approach to support the mental and emotional well-being of carriers.

Importantly, 78% of respondents advocated for the availability of gene therapy to carriers. This reflects a collective motivation among carriers to actively engage with emerging treatment options.

Gocuk SA, Edwards TL, Jolly JK, Ayton LN. Perspectives of carriers of X-linked retinal diseases on genetic testing and gene therapy: A global survey. Clin Genet. 2023;doi: 10.1111/cge.14442. Epub ahead of print. PMID: 37859457.