Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Visual screening tests were done on 61 individuals with various types of genetic skeletal dysplasias to determine which, if any, refractive errors are associated with each type. In individuals with achondroplasia, refractive error distribution was approximately that expected from its distribution in the general population. However, there was a significantly higher than expected frequency of strabismus in achondroplasts. A tendency to myopia was noted in diastrophic dysplasia and in those individuals with spondyloepiphyseal dysplasia.
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PMID:Optometric screening in achondroplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita. 676 35

We describe a patient with achondroplasia who presented with defective night vision due to fundus albipunctatus. We found no previous report of the association in a search of the literature.
J Pediatr Ophthalmol Strabismus
PMID:Fundus albipunctatus in a patient with achondroplasia. 1791 75