Fabry cornea verticillata Fabry cornea verticillata is a common ocular manifestation of Fabry disease, characterised by a whorl-like pattern of golden-brown or gray opacities in the corneal epithelium

Wes Burian, a US-based visual effects artist who worked on the Kung Fu Panda franchise, Shark Tale and Men in Black II, has Fabry disease, which can cause subcapsular cataracts.

The rare genetic disorder causes a deficiency of the enzyme alpha-galactosidase A, leading to an accumulation of lipid wastes in patients’ small blood vessels, ultimately causing symptoms including fatigue, brain fog, increased stroke risk and anhidrosis (lack of sweating).

According to Dr Sumayya Ahmad, Icahn School of Medicine at Mount Sinai, posterior subcapsular cataracts are so common among patients with Fabry disease they are sometimes termed Fabry cataracts. However, they do not commonly affect vision, she said. Cornea verticillata – a whorl-like pattern of golden brown or grey opacities in the corneal epithelium – is also characteristic of the condition and present early in up to 70% of patients with Fabry disease.

Burian, 50, told Fabry Disease News his increasing exhaustion and the beginnings of cognitive impairment forced him to retire in 2017. “All of a sudden, I really had no purpose,” he said.

Wes Burian

Several drugs are being trialled, all aiming to restore alpha-galactosidase A. Burian said he hopes to participate in one of them so younger patients – including his daughter, who also has Fabry disease – won’t have to rely on enzyme replacement therapy for life.