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Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity
L E Allen1, E M Cosgrave, J P Kersey
1Department of Ophthalmology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. louise.allen@addenbrookes.nhs.uk
Insights
Ophthalmic manifestations are common in children with Fabry disease, particularly those with loss-of-function GLA mutations. Retinal vascular changes may indicate coexisting autonomic neuropathy symptoms.
Area of Science:
- Genetics
- Ophthalmology
- Rare Diseases
Background:
- Fabry disease is a severe X-linked lysosomal storage disorder.
- It leads to multiorgan failure and premature death.
- Ophthalmic manifestations are key indicators of disease progression.
Purpose of the Study:
- Determine the prevalence of eye conditions in pediatric Fabry disease patients.
- Investigate links between ocular findings, genetic mutations, and disease severity.
Main Methods:
- Reviewed records of 26 children with Fabry disease.
- Conducted GLA gene sequencing for genotypic analysis.
- Correlated ophthalmic and systemic phenotypes with genotypes.
Main Results:
- Corneal verticillata observed in 50% of pediatric patients.
- Ophthalmic manifestations linked to loss-of-function GLA mutations (p=0.003).
- Retinal vascular tortuosity present in 27%, often with autonomic neuropathy symptoms.
Conclusions:
- Ophthalmic signs are frequent in children with Fabry disease, especially with specific GLA mutations.
- Retinal vascular changes may suggest co-occurring autonomic neuropathy.
- Further research is needed due to the small sample size.
Background/Aims:
Fabry disease is an X linked lysosomal disorder associated with severe multiorgan failure and premature death. This study aims to determine the prevalence of ophthalmic manifestations in children with the condition and investigate the correlation with genotype and systemic disease severity.
Methods:
The records of 26 children from 18 pedigrees with Fabry disease undergoing regular ophthalmic and systemic examination were reviewed. All pedigrees underwent GLA gene sequencing to determine genotype. Correlations between ocular and systemic phenotype and genotype were investigated.
Results:
Corneal verticillata occurred in 50% of the children in this study (95% CI, 29% to 79%). Children with ophthalmic manifestations were more likely to have loss-of-function GLA mutations (p=0.003). Retinal vascular tortuosity was seen in seven children (27%), all of whom had systemic symptoms suggestive of autonomic neuropathy, such as diarrhoea and syncope. These symptoms seemed less prevalent in children without retinal vascular changes, although this did not reach statistical significance (p=0.134).
Conclusion:
Ophthalmic manifestations of Fabry disease are common even in young children with loss-of-function GLA gene mutations. Although the limited sample size possibly prevented statistical significance, systemic symptoms of autonomic neuropathy often coexist with retinal vascular changes and may share the same pathogenesis.
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