Thelansis

  Autosomal dominant optic atrophy (ADOA) is a rare hereditary disorder characterized by progressive and irreversible vision loss in both eyes, typically commencing in the first decade of life. Approximately 80% of affected individuals manifest symptoms before age 10, with onset frequently occurring between ages 4 and 6. Hallmark clinical features of ADOA include central visual field defects and impaired color vision. The disease exhibits significant phenotypic variability among family members, making predicting visual acuity decline and progression challenging. Many affected children eventually progress to blindness. About 50% of individuals with ADOA do not meet driving standards, and up to 46% are classified as legally blind. A subset of approximately 20% of patients presents with a more severe phenotype known as ADOA “plus” syndrome, which encompasses additional non-ocular manifestations such as permanent hearing loss and other severe conditions impacting the nervous system a...