Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The prevalence of legal blindness in 10-year-olds in metropolitan Atlanta was 6.8 per 10,000 during 1985 to 1987. The prevalence was 8.8 per 10,000 in Black boys, 8.6 per 10,000 in White boys, 6.7 per 10,000 in White girls, and 1.8 per 10,000 in Black girls. Retinopathy of prematurity was the most common known cause (1.0 per 10,000). Of the 61 cases, 40 had other disabilities, including 14 with mental retardation, cerebral palsy, and epilepsy. The low prevalence among Black girls and the frequent occurrence of blindness with other disabilities are noteworthy.
 ...
PMID:Legal blindness among 10-year-old children in Metropolitan Atlanta: prevalence, 1985 to 1987. 141 64

Bardet-Biedl syndrome is a genetically heterogeneous multisystem disorder that causes severe visual impairment. Retinitis pigmentosa (RP), hypogonadism, digit and renal anomalies, obesity, and a variable degree of mental retardation characterize the disorder. Eight different loci have been identified on 2q31(BBS5), 3p13 (BBS3), 4q27 (BBS7), 11q13 (BBS1), 14q32 (BBS8), 15q22.3 (BBS4), 16q21 (BBS2), and 20p12 (BBS6). The ocular manifestations of Bardet-Biedl syndrome include an early and severe rod-cone dystrophy causing legal blindness in the second decade. Features of systemic phenotypic variability were proposed to distinguish patients mapped to either the BBS2, BBS3, or BBS4 loci but no phenotype-genotype correlation has been established for the ocular phenotype. We studied the three original families used for the identification of BBS2, BBS3, and BBS4 loci to define the ocular phenotypes of patients (n = 34) and obligate carriers (n = 32) using clinical examination and electroretinography (ERG). RP was severe and early in all cases. Myopia was associated with BBS3 and BBS4, but not BBS2. One patient with Bardet-Biedl syndrome also had iris and chorioretinal colobomata, features suggestive of Biemond syndrome.
 ...
PMID:Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 1569 Mar 72