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11 - Eye symptoms in Johanson Blizzard Syndrome
Ayşegül Mavi Yıldız, Ali Olgun, Ayşe Burcu Dirim, Ali Atakhan Yıldız, Dilek Güven
Johanson-Blizzard Syndrome (JBS) is a rare, autosomal recessive disease with multi-system involvement and characteristic exocrine pancreatic insufficiency. Other typical clinical features of JBS are the following (with decreasing frequency); hypoplasia/aplasia of the alae nasi (beak like small nose), dental anomalies, congenital scalp defects, sensorineural hearing loss, growth retardation, psychomotor retardation, hypothyroidism, cardiovascular and genitourinary anomalies. The most common ophthalmologic manifestation is lacrimal cutaneous fistula. The syndrome is often accompanied with nasolacrimal malformations however, intraocular malformations are almost never coincide with syndrome, supports the hypothesis that syndrome is a surface ectodermal dysplasia. We performed bilateral dilatation of puncta and nasolacrimal probing to a male infant with JBS who had been referred to our clinic with constant and excessive tearing of both eyes. Due to the rare incidence of the syndrome we aimed to report this case.
Keywords: Johanson blizzard syndrome, nasolacrimal duct, cutaneous fistula
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