SPAST and Abnormal retinal morphology: Further identifying such tissue-specific dosage disrupting SVs among 530 previously unresolved individuals with inherited retinal disease (IRD) or hereditary ataxia (HA), we made a molecular diagnosis in 10.1% and 3.2% of cases, respectively. We identified pathogenic dosage-disrupting SVs in critical, tissue-specific genes such as EYS in the retina and ITPR1 and SPAST in the cerebellum.