Although Boucher–Neuhäuser Syndrome is characterized by chorioretinal dystrophy and GHS by brisk reflex, both diseases can be caused by mutations in patatin-like phospholipase domain containing 6 (PNPLA6),45 an enzyme with little functional overlap with CHIP or RNF216. Here, PNPLA6 is linked to Ataxia - hypogonadism - choroidal dystrophy.