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E. E. Obi, P. Watts; Ocular Findings in Arthrogryposis Congenita. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4839.
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Arthrogryposis, or arthrogryposis multiplex congenita, comprisesnon progressive conditions characterized by multiple joint contracturesfound throughout the body at birth. The incidence is 1 in 3000.The major cause of arthrogryposis is fetal akinesia (ie, decreasedfetal movements) due to fetal abnormalities (eg, neurogenic,muscle, or connective tissue abnormalities; mechanical limitationsto movement) or maternal disorders (eg, infection, drugs, trauma,other maternal illnesses). Generalized fetal akinesia also canlead to polyhydramnios, pulmonary hypoplasia, micrognathia,ocular hypertelorism, and short umbilical cord. While the preponderanceof musculoskeletal disorders are largely known, the ocular anomaliesare not.The aim of the study, was to ascertain the range ofocular anomalies in arthrogryposis congenita, particularly themost predominant ones.
An observational survey was carried out through the ArthrogryposisTAG society using a designed questionnaire. distributed to itsmembers.
35 questionnaires were returned, 33 out of 35 responses werecomplete. A significant range of ocular diseases were foundin 66% (23) of cases, ranging from astigmatism, keratoconus,ptosis, strabismus, glaucoma to cortical blindness.
In this group of patients, despite severe musculoskeletal manifestations,there is unfortunately a preponderance of refractive errorsand strabismus, which could give rise to further limitationsin their mobility. Since a diagnosis is usually made at birthor early childhood, it is recommended that in this group ofpatients, an ophthalmology review forms part of their multidisciplinarycare to prevent ambylopia.
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