Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome
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Citações na Scopus
0
Tipo de produção
article
Data de publicação
2023
Título da Revista
ISSN da Revista
Título do Volume
Editora
SPRINGER
Autores
MARTINS, Thiago Goncalves dos Santos
COSTA, Ana Luiza Fontes de Azevedo
Citação
DOCUMENTA OPHTHALMOLOGICA, v.146, n.3, p.273-279, 2023
Resumo
PurposeTo describe a case of retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.MethodsFundus photography, total field electroretinogram, ultrasound, computerized visual field examination, biochemical examination and genetic testing were obtained.ResultsThe 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.ConclusionThe 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
Retinitis pigmentosa, Nanophthalmos, Hunter's syndrome, Total field electroretinogram
Referências
- Ashworth JL, 2006, EYE, V20, P553, DOI 10.1038/sj.eye.6701921
- Ashworth JL, 2006, SURV OPHTHALMOL, V51, P1, DOI 10.1016/j.survophthal.2005.11.007
- Baehner F, 2005, J INHERIT METAB DIS, V28, P1011, DOI 10.1007/s10545-005-0112-z
- Beesley CE, 2001, HUM GENET, V109, P503
- BRAUN SE, 1993, P NATL ACAD SCI USA, V90, P11830, DOI 10.1073/pnas.90.24.11830
- Bruscolini A, 2017, SEMIN OPHTHALMOL, V32, P707, DOI 10.3109/08820538.2016.1170160
- Connell P, 2008, J AAPOS, V12, P7, DOI 10.1016/j.jaapos.2007.04.003
- Karageorgos L, 2007, HUM MUTAT, V28, P897, DOI 10.1002/humu.20534
- Lin HY, 2009, AM J MED GENET A, V149A, P960, DOI 10.1002/ajmg.a.32781
- Salvucci IDM, 2018, OPHTHALMIC GENET, V39, P103, DOI 10.1080/13816810.2017.1354383
- Martins AM, 2009, J PEDIATR-US, V155, pS32, DOI 10.1016/j.jpeds.2009.07.005
- Quaio CRDC, 2012, JIMD REP, V4, P125, DOI 10.1007/8904_2011_90
- Stephan BD, 2022, CLINICS, V77, DOI 10.1016/j.clinsp.2022.100082
- Whiteman DAH, 2017, DRUG DES DEV THER, V11, P2467, DOI 10.2147/DDDT.S139601