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Ophthalmological findings with two Bardet-Biedl syndrome cases with polymorphisms on cardiovascular susceptibility genes

Poster Details

First Author: Ö.Ergür TURKEY

Co Author(s):    A. Törel Ergür   S. Aky?ld?z           

Abstract Details


Bardet-Biedl Syndrome (BBS) is a genetic autosomal recessive disorder, characterized by abdominal obesity, mental retardation, polydactyly, hypogonadism, retinal dystrophy or pigmentary retinopathy and renal impairment. Obesity associated with metabolic syndrome (MS) in early childhood increases the risk of prothrombotic and cardiovascular diseases. In syndromic cases with obesity such as BBS, possibility that myocardial infarction and thromboembolic events could develop at early age should be considered.


Ankara, Turkey


Two cases (Case1 and Case 2) were admitted to the Department of Pediatric Endocrinology (PE) for obesity. Both of cases were performed a detailed physical examination, pubertal staging and anthropometric evaluations. The criteria of metabolic syndrome were defined according to modified WHO criteria. In both cases, polymorphisms were detected on Factor V, Factor XIII, methylenetetrahydrofolate reductase (MTHRF), Plasminogen activator inhibitor-1 (PAI-1) (4G/5G), Glycoprotein IIIa receptor (HPA-1), and Apoprotein-E3/3 genes.


Clinical and laboratory characteristics of both BBS cases are shown in Table 1 and 2, respectively. In both cases disseminated hyperpigmented areas as bone corpuscules in the peripheral regions were determined. .Retinitis Pigmentosa were determined in both Case 1 and Case 2,but the maculopathy was determinedonly in Case 1with palor of the optic nerve, not in Case 2.In this study, we investigate the polymorphisms on cardiovascular susceptibility genes in two BBS cases who visited our clinic with obesity, metabolic syndrome and ophthalmological findings.


In conclusion, in syndromic cases with metabolic syndrome, the occurrence possibility of thromboembolic diseases and myocardial infarction could develop at an early age of life should be kept in mind. Detecting genetic susceptibility in such cases and monitoring the patients may be life saving especially in conditions at risk such as dehydration, severe infection, and operation.

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