Serebello-Okülo-Renal Sendrom ve Mikroftalmi Birlikteliği
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Tarih
2018
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Serebello-okülo-renal sendrom, hipotoni, ataksi, anormal solunum paterni ve gelişme geriliği ile karakterize konjenital nöro-gelişimsel birbozukluk olan Joubert sendromunun bir varyantıdır ve Joubert sendromu bulgularına renal tutulumun eklenmesiyle tanımlanır. Beyin manye-tik rezonans görüntülemesindeki “molar diş” görünümü hastalık için patognomoniktir. Bu çalışmada göz teması kuramama şikayetiyle ailesitarafından kliniğimize getirilen serebello-okülo-renal sendrom tanılı 6 aylık kız olgunun klinik özellikleri ve bilateral mikroftalmi birlikteliğisunulmaktadır. Serebello-okülo-renal sendroma eşlik edebilen çok sayıda oküler anomaliden biri olan mikroftalmide, erken refraktif düzeltmeile ambliyopi riski azaltılabilir. Bu da hayatın ilk aylarında yapılan oftalmolojiik muayenenin önemini vurgulamaktadır.
Cerebello-oculo-renal syndrome is a clinical variant of Joubert syndrome, which is a congenital neurodevelopmental disorder, character-ized by hypotonia, abnormal respiration pattern, ataxia and developmental delay. Cerebello-oculo-renal syndrome is defined by the features ofJoubert syndrome with the addition of renal involvement. ”Molar tooth” sign on the brain magnetic resonanace imaging is pathognomonic forthe disease. In this study we present a 6-months old girl with cerebello-oculo-renal syndrome, who was brought to our clinic with the com-plaints of not establishing eye contact with her family. We present the association between cerebello-oculo-renal syndrome and bilateral mi-crophtalmia, with other ophthalmic and systemic findings in our patient. The risk of amblyopia in microphthalmia; which is one of the ocularabnormalities associated with cerebello-oculo-renal syndrome, can be reduced with early refractive correction. This emphasizes the importanceof ophthalmic examination in the first months of life.
Cerebello-oculo-renal syndrome is a clinical variant of Joubert syndrome, which is a congenital neurodevelopmental disorder, character-ized by hypotonia, abnormal respiration pattern, ataxia and developmental delay. Cerebello-oculo-renal syndrome is defined by the features ofJoubert syndrome with the addition of renal involvement. ”Molar tooth” sign on the brain magnetic resonanace imaging is pathognomonic forthe disease. In this study we present a 6-months old girl with cerebello-oculo-renal syndrome, who was brought to our clinic with the com-plaints of not establishing eye contact with her family. We present the association between cerebello-oculo-renal syndrome and bilateral mi-crophtalmia, with other ophthalmic and systemic findings in our patient. The risk of amblyopia in microphthalmia; which is one of the ocularabnormalities associated with cerebello-oculo-renal syndrome, can be reduced with early refractive correction. This emphasizes the importanceof ophthalmic examination in the first months of life.
Açıklama
Anahtar Kelimeler
Serebello-okülo-renal sendrom, Göz bulguları, Mikroftalmi, Cerebello-oculo-renal syndrome, Microphthalmia, Ocular findings
Kaynak
MN Oftalmoloji
WoS Q Değeri
Scopus Q Değeri
Cilt
25
Sayı
3
Künye
Özkağnıcı, A., Bitirgen, G., Çaksen, H., Güneş, İ., Tınkır Kayıtmazbatır, E. (2018). Serebello-okülo-renal
sendrom ve mikroftalmi birlikteliği. MN Oftalmoloji 25, 3,183-185.
