Neuropsychology and ophthalmology
Pathophysiology and progression in Fabry disease
The information on this page is tailored for neurologists, ophthalmologists and mental health professionals. For more detailed information on the cause, inheritance, diagnosis and management of Fabry disease, please refer to our ‘About Fabry disease’ page.
Introduction to neurological pathophysiology in Fabry disease
Cerebrovascular and neurological involvement in Fabry disease can be extensive, spanning central and peripheral nerve dysfunction, ophthalmological complications and psychiatric disorders.1 Early symptoms such as neuropathic pain are related to dysfunction of peripheral and autonomic nervous systems due to damage to small nerve fibres, while late symptoms are due to vascular complications of the central nervous system (CNS).2 Though transient ischaemic attacks (TIAs) and stroke are common, in patients with Fabry disease they often occur before a patient has been formally diagnosed.3
Neuropsychological and ophthalmological progression in Fabry disease
The figure below summarises typical neuropsychological and ophthalmological progression in Fabry disease patients.
Tap on each dot to learn moreTIA: transient ischaemic attack
Adapted from Ortiz et al 2018, Germain 2010, Mehta et al 2010 and Sodi et al 2007.1-4
NP-NN-UKI-00041024
October 2024
- Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123:416–427.
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
- Mehta A, Beck M, Eyskens F, et al. Fabry disease: a review of current management strategies. Q J Med. 2010;103:641-59.
- Sodi A, Ioannidis AS, Mehta A, et al. Ocular manifestations of Fabry’s disease: data from the Fabry Outcome Survey. Br J Ophthalmol. 2007;91:210–214.
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Neuropsychology and ophthalmology
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Neurology and Fabry disease
