Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.
<!--[if gte mso 9]><xml> <w:WordDocument> <w:View>Normal</w:View> <w:Zoom>0</w:Zoom> <w:TrackMoves /> <w:TrackFormatting /> <w:HyphenationZone>21</w:HyphenationZone> <w:PunctuationKerning /> <w:ValidateAgainstSchemas /> <w:SaveIfXMLInvalid>false</w:SaveIfXMLInvalid> <w:IgnoreMixedContent>false</w:IgnoreMixedContent> <w:AlwaysShowPlaceholderText>false</w:AlwaysShowPlaceholderText> <w:DoNotPromoteQF /> <w:LidThemeOther>PT-BR</w:LidThemeOther> <w:LidThemeAsian>X-NONE</w:LidThemeAsian> <w:LidThemeComplexScript>X-NONE</w:LidThemeComplexScript> <w:Compatibility> <w:BreakWrappedTables /> <w:SnapToGridInCell /> <w:WrapTextWithPunct /> <w:UseAsianBreakRules /> <w:DontGrowAutofit /> <w:SplitPgBreakAndParaMark /> <w:DontVertAlignCellWithSp /> <w:DontBreakConstrainedForcedTables /> <w:DontVertAlignInTxbx /> <w:Word11KerningPairs /> <w:CachedColBalance /> </w:Compatibility> <w:BrowserLevel>MicrosoftInternetExplorer4</w:BrowserLevel> <m:mathPr> <m:mathFont m:val="Cambria Math" /> <m:brkBin m:val="before" /> <m:brkBinSub m:val=" " /> <m:smallFrac m:val="off" /> <m:dispDef /> <m:lMargin m:val="0" /> <m:rMargin m:val="0" /> <m:defJc m:val="centerGroup" /> <m:wrapIndent m:val="1440" /> <m:intLim m:val="subSup" /> <m:naryLim m:val="undOvr" /> </m:mathPr></w:WordDocument> </xml><![endif]--> <p class="MsoNormal" style="margin-bottom: .0001pt; text-align: justify; line-height: 150%;"><span style="font-size: small;"><span style="line-height: 24px;">Introduction: Despite recent improvements in ophthalmologic examination techniques, the evaluation of vitreoretinal diseases due </span></span><span style="font-size: small;"><span style="line-height: 24px;">diabetic retinopathy (DR) often presents a diagnostic challenge. Ocular sonography is superior to computed tomography and magnetic </span></span><span style="font-size: small;"><span style="line-height: 24px;">resonance imaging in detecting of DR, because the eye can be examined dynamically during ocular movements, and can gather a vast </span></span><span style="font-size: small;"><span style="line-height: 24px;">amount of information what is not possible with clinical examination alone. Objective: Observational study demonstrating ophthalmic </span></span><span style="font-size: small;"><span style="line-height: 24px;">ultrasound findings of patients with DR in your different grades. Methodology: Study in which are presented the sonographic aspects in </span></span><span style="font-size: small;"><span style="line-height: 24px;">a group of patients with DR in your different grades. We studied both eyes of individuals with DR by ocular sonography. The diagnostic </span></span><span style="font-size: small;"><span style="line-height: 24px;">of DR was based on the clinical and retinography examinations performed. The DR was classified according to the modified Airlie </span></span><span style="font-size: small;"><span style="line-height: 24px;">House system on the basis of stereoscopic fundus examination with a 90 diopter lens. Results: The individuals examined had some </span></span><span style="font-size: small;"><span style="line-height: 24px;">degree of DR, level 20 to 85 of the Early Treatment of Diabetic Retinopathy Scale. The diagnosis of DR was accomplished when at </span></span><span style="font-size: small;"><span style="line-height: 24px;">least four or more microaneurysms were present in the retinography, with or without hard or soft exudates, in the absence of other </span></span><span style="font-size: small;"><span style="line-height: 24px;">known diseases, being presented the sonographic features of these complications. Conclusion: Ocular sonography is very useful </span></span><span style="font-size: small;"><span style="line-height: 24px;">diagnostic tool in detection and evaluation of DR complications, because shows the nature and extent of lesions in eyes with vitreous </span></span><span style="font-size: small;"><span style="line-height: 24px;">opacification, which is usually not visualized on ophthalmoscopy, helping to determine the clinical treatment or timing of surgery, </span></span><span style="line-height: 24px; font-size: medium;">and to predict the visual outcome and it may serve as a useful extension of the initial investigation of the symptomatic or not patient.</span></p> <!--[if gte mso 9]><xml> <w:LatentStyles DefLockedState="false" DefUnhideWhenUsed="true" DefSemiHidden="true" DefQFormat="false" DefPriority="99" LatentStyleCount="267"> <w:LsdException Locked="false" Priority="0" SemiHidden="false" UnhideWhenUsed="false" QFormat="true" Name="Normal" /> <w:LsdException 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Based on finding of a 4% prevalence of elevated TSH during pregnancy, the authors consider important the inclusion of thyroid function laboratory evaluation in the routine prenatal examination. Further studies appear necessary to establish at what gestational age thyroid function evaluation should be started in pregnant women and how frequently it should be repeated during the course of gestation.
Purpose: Employ fuzzy logic to auxiliary in identification and diagnosis the gravity of diabetic retinopathy (DR). Methods: A cross-sectional study was performed, being assessed 100 diabetes mellitus patients with DR. The following ultrasound findings were measured employing a semi-quantitative punctuation method: vitreous hemorrhage, posterior vitreous detachment, epiretinal fibrosis, retinal detachment. The fundus photography (FP) aspects evaluated for diagnosis of DR were at least four or more microaneurysms with or without hard or soft exudates, and neovascularization, graded using the Early Treatment of Diabetic Retinopathy Scale. With the combination between ultrasound punctuation and FP aspects through fuzzy logic, a classification for DR has been built. Results: Microaneurysms were the findings which presented the better interaction with the DR severity on ultrasound, while the hard exudates showed the minors estimation errors when compared to soft exudates. A classification for DR was suggested based on the 95% confidence interval of number of microaneurysms: mild group (< 24.6); moderately mild (24.6 - 48.0); moderate (48.1 - 64.5); moderately severe (64.6 - 77.0); severe (77.1 - 92.7); and very severe (> 92.7). Conclusion: By the fuzzy logic, a DR classification was constructed supported on number of microaneurysms measurement with a simple practical application. Keywords: Fuzzy logic; Ultrasound imaging; Fundus retinal image; Diabetic retinopathy; Diabetes mellitus.
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