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Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter’s syndrome

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Abstract

Purpose

To describe a case of retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter’s syndrome.

Methods

Fundus photography, total field electroretinogram, ultrasound, computerized visual field examination, biochemical examination and genetic testing were obtained.

Results

The fundus exam showed diffuse arteriolar attenuation, optic disc with regular contours, and pigment agglomerates like "bone spicules" in the middle periphery. Ultrasound examination revealed scleral thickening and short axial diameter in both eyes. The total field electroretinogram exam showed a subnormal result with greater impairment of the scotopic phase of the exam. Computerized visual field examination demonstrated a diffuse reduction in retinal sensitivity in the periphery. Biochemical examination showed increased urine glycosaminoglycan excretion and iduronate-2-sulphatase activity (IDS) deficiency in leukocytes, confirming the type II mucopolysaccharidosis. Molecular analysis revealed a novel missense mutation (p.A77D) in the IDS gene.

Conclusion

The case report is about a patient presented an attenuated form of the syndrome, with no cognitive impairment. Ophthalmologic follow-up is still an important part of multidisciplinary treatment for Hunter’s syndrome.

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Acknowledgements

Jose Carlos Eudes Carani for the contribution at work.

Funding

The author(s) received no financial support for the research, authorship, and/or publication of this article.

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Authors and Affiliations

  1. University of São Paulo (USP), Av. Dr. Enéas Carvalho de Aguiar, 255- 6° Floor, São Paulo, Brazil

    Thiago Gonçalves dos Santos Martins, Ana Luiza Fontes de Azevedo Costa, Sérgio Luís Gianotti Pimentel, Maria Kiyoko Oyamada & Simone Finzi

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  1. Thiago Gonçalves dos Santos Martins
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  2. Ana Luiza Fontes de Azevedo Costa
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  3. Sérgio Luís Gianotti Pimentel
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  4. Maria Kiyoko Oyamada
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  5. Simone Finzi
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Correspondence to Thiago Gonçalves dos Santos Martins.

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dos Santos Martins, T.G., de Azevedo Costa, A.L.F., Pimentel, S.L.G. et al. Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter’s syndrome. Doc Ophthalmol 146, 273–279 (2023). https://doi.org/10.1007/s10633-023-09924-z

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  • DOI: https://doi.org/10.1007/s10633-023-09924-z

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