Autosomal recessive
Caused by loss-of-function changes in both copies of ACBD5, which tethers peroxisomes to the endoplasmic reticulum and helps break down very-long-chain fatty acids. Without it, these fatty acids accumulate in cells.
Signs and symptoms
A progressive retinal dystrophy causing loss of vision, together with a slowly progressive leukodystrophy that leads to spasticity, unsteadiness and difficulty walking. Symptoms can start in infancy. Some people also have cleft palate, tremor or ovarian insufficiency. Only a small number of families have been reported.
What a diagnosis changes
Care includes eye follow-up and low-vision support, physiotherapy and neurological review. Measuring very-long-chain fatty acids in patient samples can support the diagnosis. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.
Genes analysed
