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Molybdenum cofactor deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Dislocation of the lenses may be a late finding, and some infants have died without demonstrating this finding. A patient reported [3] developed dislocation of the lenses at eight years of age. Other ocular findings seen earlier in this patient included spherophakia, small spherically lenses prone to subluxation, typically seen in the Weill-Marchesani syndrome, but the authors attributed subluxations to abnormal relaxation of the zonular fibers that ultimately leads to dislocation.
Ophthalmology
Published in Shibley Rahman, Avinash Sharma, A Complete MRCP(UK) Parts 1 and 2 Written Examination Revision Guide, 2018
Shibley Rahman, Avinash Sharma
Ectopia lentis/subluxation of the lens is associated with: Ehlers-Danlos syndromeMarfan’s syndromeWeill-Marchesani syndrome (short stature, skeletal abnormalities and ectopia lentis)Refsuiris diseasehomocystinuria
Analysis of Corneal Astigmatism before Surgery in Chinese Congenital Ectopia Lentis Patients
Published in Current Eye Research, 2018
Yichi Zhang, Guangming Jin, Charlotte Aimee Young, Qianzhong Cao, Junxiong Lin, Jianqiang Lin, Yiyao Wang, Danying Zheng
The records of 306 CEL patients were reviewed, of which 252 subjects met the criteria and were enrolled in the study. All 252 patients’ corneal astigmatism data were collected. Table 1 summarizes the demographics of patients and the characteristics of eyes enrolled in the study. Marfan syndrome was found in 37.7% of enrolled subjects (95/252), Weill-Marchesani syndrome in 0.40% (1/252), and Francois symptom in 0.40% (1/252) (Table 1). Most corneal astigmatism of CEL eyes fell into the range of 0.5–2.5D (64.2%, 162/252) (Figure 1). Corneal astigmatism WTR was found in 85% of eyes (214/252), ATR in 8% of eyes (20/252), and oblique in 7% of eyes (18/252).
Characteristics and Risk Factors for Pupillary Capture of Intraocular Lens in Congenital Ectopia Lentis
Published in Current Eye Research, 2020
Guangming Jin, Junxiong Lin, Bing Xiao, Aiming Chen, Charlotte Aimee Young, Danying Zheng
Congenital ectopia lentis (CEL) is a rare but severe disease caused by zonular defect that leads to lens displacement from its normal position. It is usually associated with systemic diseases such as Marfan syndrome,1,2 Weill-Marchesani syndrome,3 and homocystinuria.4,5 Ectopia lentis can not only cause large degrees of refractive error, but also complicate severe eye diseases which could lead to vision impairment such as cataract,6 glaucoma,7 and retinal detachment.8,9