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PURPOSE: To map and identify the mutated gene for autosomal dominant cataract (ADC) in a large Chilean family (ADC53). DESIGN: Experimental study. PARTICIPANTS: Large Chilean family with ADCs. METHODS: Linkage analyses using genome-wide polymorphic DNA markers were performed on a family with variable expression of cataracts to map the mutated gene to a chromosome; 2-point lod scores were calculated. Candidate genes in the region of the maximum lod score were sequenced. We compared haplotypes (alleles at closely linked markers) in families with previously reported mutations of the crystallin, beta-B2 gene (CRYBB2). MAIN OUTCOME MEASURES: Identification of the causative mutation in the ADC53 family. RESULTS: The ADC locus mapped to chromosome 22 in the region of a cluster of lens beta crystallin genes (CRYBB3, CRYBB2, CRYBB1, and CRYBA4 and the pseudogene CRYBB2P1). We sequenced CRYBB1 and CRYBB2 and found a previously reported mutation and a variant in exon 6 of CRYBB2 that cosegregate with the disease; these changes in CRYBB2 are in the reference (normal) sequence of an adjacent gene CRYBB2P1, a pseudogene. The haplotypes in the ADC53 Chilean family were different from the 2 previously reported families with the mutation. CONCLUSIONS: The cataracts in the ADC53 Chilean family are caused by a mutation in the CRYBB2 gene; as the 2 variations in CRYBB2 are identical to the reference sequence of pseudogene CRYBB2P1, which has over 97% homology to CRYBB2, a gene conversion probably has occurred. Based on haplotype analyses, the mutation and variant are likely to be caused by independent gene conversions in our family and the previously reported families.

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PURPOSE: To document intrafamilial and interocular phenotypic variability of autosomal dominant cataract (ADC). DESIGN: Prospective observational case series. METHODS: We performed ophthalmologic examination in four Chilean ADC families. RESULTS: The families exhibited variability with respect to morphology, location with the lens, color and density of cataracts among affected members. We documented asymmetry between eyes in the morphology, location within the lens, color and density of cataracts, and a variable rate of progression. CONCLUSIONS: The cataracts in these families exhibit wide intrafamilial and interocular phenotypic variability, supporting the premise that the mutated genes are expressed differentially in individuals and between eyes; other genes or environmental factors may be the bases for this variability. Marked progression among some family members underscores the variable clinical course of a common mutation within a family. Like retinitis pigmentosa, classification of ADC will be most useful if based on the gene and specific mutation.

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Limited information is currently available about performance of Spanish-speaking children on different neuropsychological tests. This study was designed to (a) analyze the effects of age and sex on different neuropsychological test scores of a randomly selected sample of Spanish-speaking children, (b) analyze the value of neuropsychological test scores for predicting school performance, and (c) describe the neuropsychological profile of Spanish-speaking children with learning disabilities (LD). Two hundred ninety (141 boys, 149 girls) 6- to 11-year-old children were selected from a school in Bogotá, Colombia. Three age groups were distinguished: 6- to 7-, 8- to 9-, and 10- to 11-year-olds. Performance was measured utilizing the following neuropsychological tests: Seashore Rhythm Test, Finger Tapping Test (FTT), Grooved Pegboard Test, Children's Category Test (CCT), California Verbal Learning Test-Children's Version (CVLT-C), Benton Visual Retention Test (BVRT), and Bateria Woodcock Psicoeducativa en Español (Woodcock, 1982). Normative scores were calculated. Age effect was significant for most of the test scores. A significant sex effect was observed for 3 test scores. Intercorrelations were performed between neuropsychological test scores and academic areas (science, mathematics, Spanish, social studies, and music). In a post hoc analysis, children presenting very low scores on the reading, writing, and arithmetic achievement scales of the Woodcock battery were identified in the sample, and their neuropsychological test scores were compared with a matched normal group. Finally, a comparison was made between Colombian and American norms.

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Objetivo: Relatar um resultado visual favorável incomum em um paciente com meningite criptocócica, e paresia bilateral do músculo oblíquo superior como nova complicaçäo deste quadro. Relato de caso: Paciente de 15 anos, portadora de lúpus eritematoso e meningite criptocócica apresentou paresia bilateral do músculo oblíquo superior, edema bilateral do nervo óptico e pressäo intracraniana elevada, evoluindo com ausência de percepçäo luminosa no olho direito. Resultado: Com tratamento com fluconazol, acetazolamida e dexametasona, assim como repetidas punçöes lombares para reduzir a pressäo intracraniana, se obteve recuperaçäo da acuidade visual de 20/20 em ambos os olhos e restauraçäo da motilidade ocular. Conclusäo: Com tratamento apropriado, a perda visual associada à meningite criptocócica pode ter um resultado favorável.

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OBJECTIVE: The authors describe new ocular and electroretinographic (ERG) features in Menkes disease. DESIGN: The study design is a case report. PARTICIPANTS: The authors studied two patients with Menkes disease. INTERVENTION: The authors performed complete ophthalmologic and ERG evaluations in both patients. MAIN OUTCOME MEASURES: The parameters used were slit-lamp biomicroscopy and ERG recordings. RESULTS: Aberrant lashes and anterior stromal hypoplasia of the iris are new findings, and profound delays in b-wave implicit time in well-developed photopic responses may be added as new ERG features. CONCLUSIONS: Patients with Menkes disease may have aberrant lashes, anterior stromal hypoplasia, and retinal degeneration.

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A Síndrome de Menkes é uma desordem neurodegenerativa progressiva ligada ao cromossona X; uma mutaçäo no gene de Menkes (MNK) causa a doença por alterar o transporte de cobre do citosol para as organelas celulares. Apesar da síndrome näo ser rara, o diagnóstico é raramente feito em nosso meio. Déficit de crescimento, convulsöes e um cabelo peculiar säo achados precoces da síndrome. A visäo deteriora a despeito de um exame ocular praticamente normal. Sem tratamento, os pacientes raramente sobrevivem além de três anos de idade. Foram estudadas as manifestaçöes oculares em três pacientes com a Síndrome de Menkes e adicionadas hipoplasia do estroma anterior da íris e cílios aberrantes como novas manifestaçöes da doença. Uma vez familiarizados com esta síndrome, os oftalmologistas teräo um grande papel no seu diagnóstico precoce e seu eventual tratamento

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PURPOSE: To describe cataracts in classic and early onset Cockayne syndrome (CS). Classic CS typically has an onset after the first year of life; intrauterine growth failure and severe neurologic dysfunction from birth distinguishes the less common early onset CS from the classic form. METHODS: A complete ophthalmic evaluation was performed in four affected patients, one with the early onset and three with classic CS. RESULTS: We report cataract in all patients and glaucoma in one, the latter never previously reported in CS. CONCLUSION: CS should be considered in babies with low birth weight and congenital cataract.

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A questionnaire designed to assess the prevalence of psychoactive substance use and its relation with: (a) central nervous system risk factors, (b) associated disorders (allergies, migraine-type headaches, developmental dyslexia history, smoking, suicide attempt, and sleep disorders), and (c) cognitive-type symptoms, was given to a general population sample of 1,879 university students (mean age = 24.0) from Bogotá (Colombia, South America). A prevalence of 3.4% of self-reported psychoactive substance use was found. Results indicated that the incidence of some risk factors of minor brain injury or dysfunction, smoking, suicide attempt, and headache was higher among the self-reported psychoactive substance users than among nonusers. Cognitive-type symptoms, except suicide ideation, did not differ between drug users and nonusers. Current results point to a significant association between psychoactive substance use and depressive symptoms, and there was no significant association between psychoactive substance use and psychotic ideation.

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A basic neuropsychological test battery was given to 64 adolescents (57 males and seven females; mean age = 15.5) divided in two groups: (1) drug-abusers ("experimental group," n = 26), and (2) non drug-abusers ("control group," n = 38). Psychoactive substances included marijuana, "crack," solvent inhalation, gasoline sniffing, and alcohol. The following tests were used: (1) language, (2) perceptual recognition, (3) memory, and (4) praxic abilities. In general, performance was mildly (but nonsignificantly) lower in the experimental than in the control group. Only some neuropsychological test scores correlated with lifetime and amount of psychoactive drugs used. It was proposed that cognitive impairments in this sample of young drug-abusers may have been not evident because: (1) lifetime use was limited, due to the age of the subjects; and (2) in adolescents and pre-adolescents, toxic effects of drug-abuse might be manifested as a decrease in the rate of cognitive development rather than as a general cognitive decline.

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A questionnaire designed to assess the prevalence of stuttering and its relation with: (a) central nervous system risk factors; (b) associated disorders (allergies, migraine-type headache, developmental dyslexia history, smoking, and drug abuse), and (c) depression symptoms, was given to a general population sample of 1879 Spanish-speaking university students (mean age = 24.0). A prevalence of 2% of self-reported stuttering was found. Results indicated that the prevalence of minor brain injury or dysfunction, developmental dyslexia history, word-finding difficulties, and depressive symptoms was higher among the self-reported stutterers than among the nonstutterers.

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A general neuropsychological test battery was assembled and individually given to a 98-subject sample, aged 11-12 years old. The battery included some basic and common tests routinely used in the evaluation of language, memory, spatial abilities, concept formation, and praxic abilities. Twenty-five different scores were calculated. A factor analysis with varimax rotation disclosed nine different factors, accounting for about 70% of the variance. Factor I was measured by a Sequential Verbal Memory test and Verbal Fluency subtests ("verbal factor"). Factor II was measured by the Wechsler Memory Scale Visual Memory subtests (immediate and delayed reproduction), and the Rey-Osterrieth Complex Figure (copy and immediate reproduction) ("non-verbal memory and constructional factor"). Factor III was measured by the WMS Logical Memory subtests (immediate and delayed; "verbal memory factor"). Factor IV was associated with fine movements (tapping subtests, right and left hand; "fine movements factor"). Factor V was specially measured by the Information subtest of the WMS and the Boston Naming Test ("verbal knowledge"). Factor VI represented a "praxic ability factor" (ideomotor praxis tests). Delayed Associative Learning subtest measured Factor VII; and Digits measured Factor VIII. Factor IX was a "mental control factor" (Mental Control subtest of the Wechsler Memory Scale). The implications of these results to theories relating to the structure of cognitive activity are discussed.