| Autor: |
Josef Flammer, M. G. Todorova, Lukas Bubendorf, Peter Meyer, Christian Prünte |
| Rok vydání: |
2010 |
| Předmět: |
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| Zdroj: |
Acta Ophthalmologica. 88 |
| ISSN: |
1755-375X |
| Popis: |
Purpose Objective: To describe the cytology characteristics in a case of Norrie’s disease. Methods This is a retrospective case report of a 3-weeks-old boy. Diagnosis was based on findings at the initial and follow-up examinations, cytology of the pseudotumor mass and the retina of both eyes and genetic work up. Results The excised material was rich of cells with dense structures of small, round and blue nuclei. The cells stained positive for synaptophysin and displayed a proliferation rate of less than 5%. DNA sequence analysis revealed a heterozygosity of the mother and a hemizygosity of the child for the Norrie's disease associated NDP gene c.1A>G (p.M1V) sequence variant. Conclusion The small proportion of proliferating cells as well as the synoptophysin positive phenotype of the retina point towards dysplastic retina and argue against retinoblastoma. Taken the cytological results together with the genetic analysis into account a X-linked Norrie’s disease could be confirmed. Thus, cytology complemented by immunocytochemistry seems to be a useful tool to promptly differentiate patients with Norrie’s syndrome from those with retinoblastoma. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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