Author: Ana Maria Cunha (Portugal)
Co-authors: Ana Maria Cunha, Rodrigo Vilares-Morgado, Elisa Leão-Teles, Manuel Falcão, Fernando Falcão-Reis, Augusto Magalhães
Purpose
To describe retinal findings in two patients with mucopolysaccharidosis type I (MPS I).
Setting/Venue
Department of Ophthalmology, Centro Hospitalar Universitário São João, Porto, Portugal
Methods
A complete ophthalmologic examination, fundus photography, near infra-red imaging (NIR), spectral-domain optical coherence tomography (SD-OCT), and En face SD-OCT were performed.
Results
We describe a case of a 12-year-old female with a diagnosis of Hurler’s syndrome with a severe genotype (homozygous status for the mutation c.1293G>A; p.W402X, exon 9, in the IDUA gene) that underwent HSCT and ERT on the first year of life. The visual acuity was 5/10 in both eyes and bilateral grade 2 corneal haze. Spectral domain optical coherence tomography (SD-OCT) revealed thickening of the external limiting membrane (ELM) at the fovea. In the parafoveal and perifoveal regions, SD-OCT displayed a loss of the interdigitation, ellipsoid, and myoid zones and of the ELM accompanied by progressive thinning of the outer nuclear layer. Fundus infrared imaging revealed a hyperreflective ring centred on the fovea and hyporeflective areas in temporal parafoveal regions in both eyes. En face OCT imaging revealed two hyperreflective rings on the outer retinal level. The second case is a 5-year-old female with a diagnosis of Hurler- Scheie’s syndrome with a moderated genotype (homozygous status for the mutation c.1598C>G; p.P533R, exon 11, in the IDUA gene). She had bilateral grade 2 corneal haze. SD-OCT revealed thickening of the ELM at the fovea. In the parafoveal and perifoveal regions, SD-OCT displayed had no changes.
Conlusions
These patients developed macular changes with foveal deposition of hyperreflective material and parafoveal thinning, despite early systemic treatment. Systemic therapies can provide an increase in life expectancy and stabilize visual acuity and corneal clouding, although their effect on retinal degeneration is unknown.
Financial Disclosure
None
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