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Journals / Retina-Vitreus / 2006 / Cilt: 14 - Sayı: 1

Case report of a Hermansky-Pudlak syndrome with ocular albinism and bleeding diathesis

Oküler albinizmi ve kanama diyatezi olan Hermansky-Pudlak sendromlu bir olgu

Harika ÇELEBİ
Serdal ÇELEBİ
Tamer ELKIRAN
A. Şahap KÜKNER
Ülkü KÖHLE
Pages
63–66
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We reported the characteristic findings of the HPS that can be easily overlooked in patients with albinism.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:The Hermansky-Pudlak Syndrome (HPS) is a clinical syndrome described as autosomal recessively inherited tyrosinase-positive oculocutaneous albinism with bleeding diathesis and accumulation of ceroid in tissues.
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Key Findings & Data:A patient with bleeding diathesis and given thrombocyte suspension presented with amaurosis fugax, consulted and diagnosed as HPS.
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Conclusion & Impact:We reported the characteristic findings of the HPS that can be easily overlooked in patients with albinism.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Erişkin · Kadın · Hemorajik bozukluklar

Abstract

The Hermansky-Pudlak Syndrome (HPS) is a clinical syndrome described as autosomal recessively inherited tyrosinase-positive oculocutaneous albinism with bleeding diathesis and accumulation of ceroid in tissues. A patient with bleeding diathesis and given thrombocyte suspension presented with amaurosis fugax, consulted and diagnosed as HPS. We reported the characteristic findings of the HPS that can be easily overlooked in patients with albinism.

Özet

Hermansky-Pudlak Sendromu (HPS), tirozinaz-pozitif okülokütanöz albinizm, trombosit disfonksiyonuna bağlı kanama diyatezi ve çeşitli dokularda seroid benzeri madde birikimi ile karakterize otozomal resesif geçişli genetik bir hastalıktır. Kanama diyatezi nedeniyle hematoloji servisine başvuran, bu amaçla trombosit süspansiyonu verilen ve bu esnada bilateral görme kaybı gelişen bir hasta konsülte edildiğinde HPS tanısı konuldu. Amacımız, albinizmli bazı hastalarda akla getirilmediğinde kolayca gözden kaçabilen HPS’nın karakteristik özelliklerini literatür ışığında gözden geçirmektir.

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Cite This Article

ÇELEBİ, H., ÇELEBİ, S., ELKIRAN, T., KÜKNER, A. Ş., KÖHLE, Ü. (2006). Case report of a Hermansky-Pudlak syndrome with ocular albinism and bleeding diathesis. Retina-Vitreus, Cilt: 14 - Sayı: 1, 63–66. https://ajindex.com/articles/307938

References (16)

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