Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.
Doc Ophthalmol
; 146(3): 273-279, 2023 Jun.
Article
em En
| MEDLINE
| ID: mdl-36807032
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Retinose Pigmentar
/
Microftalmia
/
Mucopolissacaridose II
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article