Abstract
In the United Kingdom (U.K), 2.19 million people are affected by visual loss. Monogenic causes of visual loss include retinal dystrophies, optic neuropathies, and congenital glaucoma. A variety of reproductive options are available to adults with genetic visual loss to permit them to have an unaffected child. Prenatal diagnostic testing (PND) via amniocentesis or chorionic villus sampling (CVS) or Preimplantation Genetic Testing (PGT) is possible, provided the causal genetic variants are known in the family. We report a qualitative interview study of people with genetic causes of visual loss to explore their attitudes toward reproductive options. Participants reported a range of challenges associated with living with genetic conditions associated with visual loss. These had the potential to shape attitudes to reproductive options. Participants expressed enthusiasm for genetic testing, as it enabled them to understand if relatives might be affected by the visual loss. Decisions around reproductive options were recognized as challenging and highly personal. Positive opinions of PGT were reported, as it permitted conception of a child without the genetic cause of visual loss while avoiding the need for the termination of pregnancy. The provision of accessible information resources on genetics and reproductive options was reported to be important.