We aimed to present the ophthalmic findings in a patient with Seckel syndrome who had pigmentary retinal degeneration and severe hypermetropia and astigmatism
📌 3 Key Takeaways
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Objective & Hypothesis:Seckel syndrome is a rarely seen genetic disorder that has characteristic features such as mental retardation, severe prenatal and postnatal growth retardation, microcephaly, cardiovascular, hematological and endocrine system, central nervous system and ophthalmologic anomalies and a typical facial appearance.
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Key Findings & Data:Seckel syndrome is a rarely seen genetic disorder that has characteristic features such as mental retardation, severe prenatal and postnatal growth retardation, microcephaly, cardiovascular, hematological and endocrine system, central nervous system and ophthalmologic anomalies and a typical facial appearance.
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Conclusion & Impact:We aimed to present the ophthalmic findings in a patient with Seckel syndrome who had pigmentary retinal degeneration and severe hypermetropia and astigmatism
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Anomaliler · çoklu · Astigmatizm
Abstract
Seckel syndrome is a rarely seen genetic disorder that has characteristic features such as mental retardation, severe prenatal and postnatal growth retardation, microcephaly, cardiovascular, hematological and endocrine system, central nervous system and ophthalmologic anomalies and a typical facial appearance. We aimed to present the ophthalmic findings in a patient with Seckel syndrome who had pigmentary retinal degeneration and severe hypermetropia and astigmatism
Özet
Seckel sendromu, tipik yüz görünümü, mental retardasyon, ağır prenatal ve postnatal gelişme geriliği, düşük doğum ağırlığı, mikrosefali, kardiyovasküler, santral sinir sistemi, endokrin sistem, hematolojik ve oftalmolojik anomaliler ile karakterize nadir görülen genetik bozukluktur. Pigmenter retinal dejenerasyon ve ileri derece hipermetropi ve astigmatizma saptadığımız Seckel sendromlu bir olguyu sunmayı amaçladık.
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