GUCY2D has been associated with autosomal recessive Leber Congenital Amaurosis and autosomal dominant cone-rod dystrophy. This retrospective case series found that autosomal recessive GUCY2D mutations may cause congenital night blindness with normal acuity and refraction, and unique electroretinography.
This is the first report, to our knowledge, of patients with CNB associated with AR mutations in the GUCY2D gene. Although GUCY2D mutations have been well studied in 2 other genetic retinal disorders, LCA1 and cone-rod dystrophy 6, AR CNB patients present very differently from the other phenotypes of GUCY2D-associated retinopathy.
This paper was published in the American Journal of Ophthalmology (Vol 190, pages 58 – 68) in June 2018.
Link: https://www.sciencedirect.com/science/article/pii/S000293941830120X?via%...