Other syndromes that have been related with mutations in PNPLA6 include: (i) Oliver–McFarlane syndrome, the features of which consist of trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy; (ii) Laurence–Moon syndrome, which presents in a similar manner, though with progressive spinocerebellar ataxia and spastic paraplegia, and without trichomegaly [57]. Here, PNPLA6 is linked to retinal degeneration.