Rod-cone dystrophy with myriad systemic manifestations

Abstract:

Rod-cone dystrophy (RCD) is an inherited retinal disorder primarily affecting rod photoreceptors, followed by cone degeneration. We present the case of a 26-year-old male with RCD and multiple systemic abnormalities (atrial septal defect, hypogonadism, liver disease with gastric varices, hypertriglyceredemia, hypothyroidism, adrenal insufficiency, and delayed epiphyseal closure) in the same individual. Ophthalmic evaluation revealed retinal pigment epithelial atrophy, bone spicule pigmentation, a macular hole in the right eye, and an epiretinal membrane in the left. Genetic testing identified a heterozygous ABCA4 c.3113C>T (p.Ala1038Val) mutation, previously associated with retinal dystrophies. We postulate that this case represents a unique blended phenotype, i.e., retinal disease due to ABCA4 and multiple systemic issues due to an unidentified syndrome.