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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two subjects (brother and sister), children of consanguineous parents, showed a typical congenital corneal dystrophy associated with mental retardation and a bilateral malformation of the little finger. One of them, a boy of 10, was fat and showed a hearing loss for high tones. His corneal opacity diminished during 7 years observation. Seeing that the affected tissues were of mesenchymal origin, the authors conclude that the syndrome was mesodermal.
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PMID:[Congenital hereditary corneal dystrophy associated with various extraoculary anomalies]. 108 Aug 46

The hereditary cases of microphthalmia in the mentally retarded are not all of the partially sex-linked type as has hitherto been stated. A survey is given of published cases of dominant, autosomal recessive and sex-linked recessive pedigrees with the coincidence of microphthalmia and mental retardation. The common misconception of Norrie's disease being regraded as microphthalmia or hereditary corneal dystrophy instead of phthisis is noted. Present knowledge of chromosomal aberrations associated with microphthalmia is surveyed, and some of the syndromes and phenocopies in the mentally retarded in which microphthalmia may be found are reviewed. The survey, however, does not pretend to be a complete inventory of causes of microphthalmia in the mentally retarded.
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PMID:The heterogeneity of microphthalmia in the mentally retarded. 495 Sep 16

Aniridia is a congenital developmental anomaly of the eye that usually affects both eyes. The development of the iris, cornea, lens, angle, optic nerve and retina is disturbed. Aniridia is most often a hereditary disease with an autosomal dominant, rarely autosomal recessive inheritance, but sporadic cases are also possible. The vision function in aniridia has been observed to have a wide range from blindness to a normal visual acuity. The more serious cases where blindness occurs has been due not specifically to the aniridia but to associated conditions like cataract, glaucoma, foveal hypoplasia, corneal dystrophy, nystagmus. Aniridia could be associated with the mental retardation. Some of the sporadic cases develop Wilms' tumor, frequently as part of the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation).
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PMID:[Aniridia]. 1208 63