Autosomal recessive
Caused by changes in both copies of the PNPLA6 gene, which makes neuropathy target esterase, an enzyme that helps maintain cell membranes in nerves and other tissues.
Signs and symptoms
Features vary along a spectrum. Common features include progressive retinal dystrophy causing loss of vision, cerebellar ataxia with unsteady walking and speech, and underdeveloped puberty from low pituitary hormone levels. In the Oliver-McFarlane form, long eyelashes, sparse scalp hair and growth hormone deficiency can also occur. Less often there is spasticity, peripheral neuropathy or cognitive difficulties.
What a diagnosis changes
Regular eye, neurological and endocrine assessment, with hormone replacement for puberty, growth or other pituitary deficiencies, and physiotherapy and low-vision support. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.
Genes analysed
Also known as
RAPH syndrome
