Zihinsel Yetersizlik ve Retinitis Pigmentosa Birlikteliğinin Nadir Bir Nedeni: Laurence Moon Bardet Biedl Sendromu

Authors : Serkan KIRIK, Olcay GÜNGÖR, Yasemin KIRIK

Pages : 302-305

View : 39 | Download : 16

Publication Date : 2019-06-01

Article Type : Other Papers

Abstract :Laurence Moon Bardet Biedl syndrome is a rare, autosomal recessive disorder. Patients present with obesity, renal abnormalities, visual abnormalities, hypogonadism and mental retardation. In this case report, a 11-year-old male patient presented with absence of perception and retinitis pigmentosa who was diagnosed with Laurence Moon Bardet Biedl Syndrome. It was noted that one of the rare causes of mental retardation and retinitis pigmentosa is Bardet Biedl syndrome
Keywords : Bardet Biedl syndrome, mental retardation, retinitis pigmentosa