Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare multi-organ condition that causes early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.

Genetic analysis by a team led by Carlo Rivolta, group head for genetic ophthalmology at IOB, and Prof. Andrea Superti-Furga, head of the division of genetic medicine at Lausanne University Hospital, has revealed that the disease traces back to a common founder variant, possibly originating from a healthy carrier of the mutation living in Portugal approximately 125 years ago.

“In 1986, the ophthalmologist Ruth Liberfarb and her co-workers first described the condition in a patient originating from the Azores but residing in the U.S. at time of diagnosis. We could show in our study that the molecular cause of disease is the same in all patients. Therefore, Andrea Superti-Furga had the idea we could suggest calling it Liberfarb syndrome,” says Carlo Rivolta.

Hope for future therapies

The research team is particularly pleased that their work did not only document the likely migration of a rare genetic mutation from Portugal to two continents, but also highlights the link between phospholipid metabolism and bone formation, sensory defects, and cerebral development, while raising the possibility of therapeutic phospholipid replacement for future patients.

Liberfarb syndrome

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