Ophthalmic genetics · 2025
Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Alyan Deniz, Kiratli Hayyam, Koc Irem, Simsek Kiper Pelin Ozlem, Urel Demir Gizem
Аннотация
BACKGROUND: Jeune syndrome is an autosomal recessive chondrodysplasia characterized by skeletal deformities and extra-skeletal organ involvement. Retinal astrocytic hamartomas (astrocytomas) are benign glial cell 10 15 Q1 tumors that are generally asymptomatic and diagnosed incidentally. The IFT74 gene is responsible for the formation of IFT proteins, which play a major role in ciliogenesis.
CASE PRESENTATION: In this retrospective clinical laboratory observational study, an 18-year-old male with Jeune syndrome and night vision loss is presented. Fundus examination revealed bilateral optic discs with minimally blurred margins and bilateral retinal pigment epithelium changes in salt-pepper pattern in the peripheral retina. Additionally, a yellowish retinal astrocytoma was observed inferior to the optic disc in the left eye. Genetic analysis of the patient revealed a homozygous deletion in exon 2 of the IFT74 gene.
CONCLUSIONS: Our observations on this patient and some relationships between hamartoma and ciliopathies other than eye may potentially suggest a possible association between Jeune syndrome and retinal astrocytoma in the context of IFT74-related ciliopathies.
CASE PRESENTATION: In this retrospective clinical laboratory observational study, an 18-year-old male with Jeune syndrome and night vision loss is presented. Fundus examination revealed bilateral optic discs with minimally blurred margins and bilateral retinal pigment epithelium changes in salt-pepper pattern in the peripheral retina. Additionally, a yellowish retinal astrocytoma was observed inferior to the optic disc in the left eye. Genetic analysis of the patient revealed a homozygous deletion in exon 2 of the IFT74 gene.
CONCLUSIONS: Our observations on this patient and some relationships between hamartoma and ciliopathies other than eye may potentially suggest a possible association between Jeune syndrome and retinal astrocytoma in the context of IFT74-related ciliopathies.