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Case Reports
. 2023 Jun;146(3):273-279.
doi: 10.1007/s10633-023-09924-z. Epub 2023 Feb 20.

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

Thiago Gonçalves Dos Santos Martins  1 , Ana Luiza Fontes de Azevedo Costa  2 , Sérgio Luís Gianotti Pimentel  2 , Maria Kiyoko Oyamada  2 , Simone Finzi  2
Affiliations
Case Reports

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

Thiago Gonçalves Dos Santos Martins et al. Doc Ophthalmol. 2023 Jun.

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.

Keywords: Hunter’s syndrome; Nanophthalmos; Retinitis pigmentosa; Total field electroretinogram.

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