Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report six males with the syndrome of macroorchidism and mental retardation. The trait is inherited as though X-linked, or possibly autosomal dominant male-limited. We also found no evidence of gonadal dysfunction. Associated abnormalities were abnormal EEG (3/4), seizures (2/6), and one instance each of cervical vertebral fusion, cataract, esophoria, and abnormal cutaneous pigmentation. One woman with a 50% a priori risk of bearing the mutant gene had mental retardation and seizures. Results of Xg blood-group typing were uninformative for the purpose of linkage analysis.
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PMID:The X-linked syndrome of macroorchidism and mental retardation: further observations. 26 49

Optical correction of high hypermetropia with glasses is the primary treatment for accommodative esotropia. These glasses are often poorly accepted by adolescents and young adults for they are cosmetically undesirable, heavy, and esotropia occurs with their removal. We report an 11 1/2-year-old, physically mature female with high hypermetropia and accommodative esotropia corrected to orthophoria with glasses who was unable to be weaned from her glasses. She became intolerant to glasses wear, refused contact lenses, and was treated successfully with bilateral phakic hypermetropic epikeratoplasty. Two years postepikeratoplasty her visual acuity is 20/40 and 20/20 uncorrected and the vision in the amblyopic right eye has remained at its maximum preoperative level. She is orthophoric at distance and has a 2 prism diopter monofixational esophoria at near without glasses. Epikeratoplasty is an option in the treatment of accommodative esotropia for patients who are past the amblyopia forming age, have a stable angle of strabismus, and who require their full hypermetropic optical correction to maintain orthophoria.
J Cataract Refract Surg 1990 May
PMID:Bilateral phakic hypermetropic epikeratoplasty for accommodative esotropia. 235 24