Retinal cases & brief reports · 2024
ROTH SPOTS IN A RENDU-OSLER-WEBER SYNDROME.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Ferreira de Moura Thomas, Servettaz Amélie, Henry Adrien, Arndt Carl, Denoyer Alexandre
Аннотация
PURPOSE: The purpose of this study was to describe the molecular diagnosis and atypical ocular presentation of a patient who suffered for a Rendu-Osler-Weber syndrome associated with juvenile polyposis syndrome.
METHODS: This is a case report of a patient who underwent fundus examination, brain MRI, and arteriography. Genetic testing was performed by next-generation sequencing.
RESULTS: A 35-year-old woman presented with right hemiplegia with right homonymous lateral hemianopia and homolateral complete sensory deficit. She also had Roth spots in her left fundus. Genetic testing revealed a pathogenic variation in the heterozygous state in the SMAD-4 gene (c.1245_1248del).
CONCLUSION: Hereditary hemorrhagic telangiectasia also known as Rendu-Osler-Weber syndrome is a rare autosomal dominant disease, which reveals mostly with epistaxis and cutaneous telangiectasias. Our clinical case reports Roth spots in the context of hereditary hemorrhagic telangiectasia associated with juvenile polyposis syndrome. SMAD-4 mutation may explain the presence of a carotid-ophthalmic aneurysm, which is not a lesion usually found in hereditary hemorrhagic telangiectasia.
METHODS: This is a case report of a patient who underwent fundus examination, brain MRI, and arteriography. Genetic testing was performed by next-generation sequencing.
RESULTS: A 35-year-old woman presented with right hemiplegia with right homonymous lateral hemianopia and homolateral complete sensory deficit. She also had Roth spots in her left fundus. Genetic testing revealed a pathogenic variation in the heterozygous state in the SMAD-4 gene (c.1245_1248del).
CONCLUSION: Hereditary hemorrhagic telangiectasia also known as Rendu-Osler-Weber syndrome is a rare autosomal dominant disease, which reveals mostly with epistaxis and cutaneous telangiectasias. Our clinical case reports Roth spots in the context of hereditary hemorrhagic telangiectasia associated with juvenile polyposis syndrome. SMAD-4 mutation may explain the presence of a carotid-ophthalmic aneurysm, which is not a lesion usually found in hereditary hemorrhagic telangiectasia.