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Biomedical subjects

J B Bateman

Publications and source records attributed to J B Bateman.

At least 73 records · Page 4Linked to original sources
PubMed1987

Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.

Gyrate atrophy is a hereditary chorioretinal degeneration associated with a deficiency of ornithine aminotransferase (OAT). By means of a complementary DNA clone encoding human OAT, the OAT gene sequences were mapped by somatic cell hybrids and in situ hybridization to human chromosome regions 10q26 and Xp11.2. A review of 80 biochemically confirmed cases of gyrate atrophy confirmed the autosomal recessive inheritance of this disease and supported the presence of a functional OAT gene on chromosome 10. Interestingly, the X chromosome OAT gene sequences (Xp11.2) map to the same region as L1.28 (Xp11.0-p11.3), a marker closely linked to X-linked recessive retinitis pigmentosa.

Chromosome Mapping↗
PubMed1986

Ocular features of the Hagberg-Santavuori syndrome.

The Hagberg-Santavuori syndrome, the infantile form of the lipopigment storage disorders (so-called neuronal ceroid-lipofuscinoses), is a rare autosomal recessive disease characterized by progressive mental and motor deterioration with an onset between 1 and 1 1/2 years of age. Visual impairment is usually evident early in the disease and hypopigmented retinal degeneration has been described. We studied two unrelated patients with the infantile Hagberg-Santavuori form and found stellate posterior polar cataracts and retinal degeneration with hyperpigmented "bone spicules" in both.

Adolescent↗
PubMed1986

Genetic linkage analysis of autosomal dominant congenital cataracts.

Clinical studies and genetic linkage analysis in 64 members of a family with autosomal dominant congenital cataracts demonstrated intrafamilial variable expressivity and asymmetry between the two eyes. On the basis of 26 polymorphic phenotypic gene markers, linkage was excluded with the Duffy blood group (located on chromosome 1), haptoglobin (chromosome 16), and others. These data supported genetic heterogeneity of congenital cataracts as previous linkage assignments have included the pulverulent or Coppock cataract to chromosome 1 with Duffy and a posterior polar cataract to chromosome 16 with haptoglobin.

Cataract↗
PubMed1985

Acute angle-closure glaucoma associated with surgical anesthesia.

We reviewed the records of all inpatients of the UCLA Medical Center from 1955 to 1980 with the discharge diagnosis of "glaucoma." Nine cases of acute angle-closure glaucoma occurring after spinal or general anesthesia were identified among the 913 records reviewed. Of the nine cases, two were bilateral. Seven patients were female and two were male; the mean age was 63 years. Six of the nine surgical procedures were extraperitoneal and abdominal or pelvic. Parenteral atropine sulfate or scopolamine hydrobromide was administered to seven patients and ephedrine sulfate to four; drug-induced mydriasis may have contributed to this complication. Succinylcholine chloride, which causes contraction of the extraocular muscles, was administered to six patients. Additionally, psychological stress in the surgical patient may increase the risk of this disease by causing mydriasis. Our cases are compared with previous reports.

Acute Disease↗
PubMed1985

Classification of congenital and early onset retinitis pigmentosa.

We retrospectively studied 36 patients with congenital (Leber's amaurosis) and early onset retinitis pigmentosa (RP) to develop a new schematic classification system based on the age at onset of symptoms, severity of visual loss, and associated nonocular abnormalities. Our four groups were designated as complicated and uncomplicated Leber's congenital amaurosis and juvenile and early onset RP. Criteria for patient selection included an extinguished or barely recordable electroretinogram, well-documented age of onset, and comprehensive ocular and medical examinations before the age of 10 years. Among the congenitally blind, the distinguishing features were the degree of hyperopia and the presence or absence of neurologic abnormalities. Among patients with infantile or juvenile onset of retinal degeneration, the distinguishing features were the severity of visual loss and the age at onset of symptoms. The presence of nystagmus and hyperopia and the severity of central visual loss differentiated congenital from early onset RP.

Child↗
PubMed1985

Eye movement abnormalities in rod monochromatism and blue-cone monochromatism.

Eye movements were recorded with electro-oculography in seven patients with rod monochromatism (RM) and five with blue-cone monochromatism (BCM). The continuous horizontal nystagmus was similar in both groups. However, three patients with BCM demonstrated an intermittent, high-frequency nystagmus, in addition to the continuous nystagmus. The most striking differences between the groups were present during monocular smooth pursuit and optokinetic tracking. Patients with RM demonstrated better tracking when targets moved in the temporal-to-nasal (T-N) direction in the visual field of the viewing eye, than when targets moved in the nasal-to-temporal (N-T) direction. The velocity of optokinetic nystagmus (OKN) increased gradually over several seconds during T-N target movement. Patients with BCM did not show a directional asymmetry or a slow build-up of OKN during monocular tracking. Differences in eye movement abnormalities can be useful in differentiating these two forms of congenital color blindness from other forms of congenital nystagmus and from each other.

Adolescent↗
PubMed1984

Wilms' tumor-aniridia association: segregation of affected chromosome in somatic cell hybrids, identification of cell surface antigen associated with deleted area, and regional mapping of c-Ha-ras-1 oncogene, insulin gene, and beta-globin gene.

Fusion of an auxotrophic mutant hamster cell with the skin fibroblasts of a child with the Wilms' tumor-aniridia association produced clones which, on the one hand, contained the child's normal chromosome 11 and, on the other, the chromosome 11 with the 11p13 deletion associated with the syndrome. Both hybrids were positive for human LDH-A by enzymatic assay. Clones containing the normal human chromosome 11 were killed by a cytotoxic monoclonal antibody to a cell surface antigen previously mapped to the 11p13----11pter region of chromosome 11. Clones with the abnormal 11 were not killed. Thus, we have produced hybrids from the same patient distinct from each other on the basis of their chromosome 11. These hybrids have been used to map the locus for a cell surface antigen to the deleted region on chromosome 11 of a patient with the Wilms tumor-aniridia association. The linkage between this antigen and the syndrome should be helpful in further study of the genetics of this disease. In addition, we have found that the c-Ha-ras-1 oncogene is distal to the p13 region of chromosome 11 and the position of insulin and beta-globin on the chromosome. Finally, by producing segregants of the hybrids containing the abnormal chromosome 11, we have provided evidence that chromosome 11-associated c-Ha-ras-1 is syntenic with chromosome 11 and not moved to a different portion of the genome.

Animals↗
PubMed1984

Peters' anomaly associated with partial deletion of the long arm of chromosome 11.

A 5-week-old boy with Peters' anomaly was found to have an interstitial deletion of the long arm of chromosome 11; no developmental delays or dysmorphic features were evident. His right cornea was enlarged and opaque with extensive pannus formation; the anterior chamber, iris, and lens were not visible. The left eye showed a central opacity and a superficial pannus; the optic disk and macula could not be visualized. He underwent bilateral corneal transplantation. Histologic examination of the corneal buttons confirmed the diagnosis. The potential genetic mechanisms in this case included a gene for this autosomal recessive disorder on the long arm of chromosome 11, generalized disruption of the embryogenesis of the anterior segment as a result of the deleted material, or simple autosomal recessive inheritance unrelated to the chromosomal deletion.

Chromosome Aberrations↗
PubMed1984

Microphthalmos.

Explore the source record for details and available documents.

Chromosome Aberrations↗
PubMed1984

Estimating the recombination frequency for the MN and the Ss loci.

Linkage analysis of 146 informative families for MN and Ss resulted in an estimate of the recombination frequency greater than previously reported. Our total is 7 recombinant children out of 467 individuals, including 1 confirmed recombinant (retested and HLA-compatible) and 6 not verified. The 95% confidence interval of our estimate of recombination is 0.0033-0.0167. Our results are compared with two earlier studies.

Female↗
PubMed1984

Colobomatous macrophthalmia with microcornea.

The ocular malformation of microcornea, uveal coloboma, high myopia, posterior staphyloma, and macrophthalmia was studied in a family. Clinical characteristics and ocular parameters, including refractive error and axial length, are summarized. The pedigree is consistent with autosomal dominant inheritance of the disorder; expressivity is variable. This unique malformation is differentiated from other well-recognized syndromes of colobomatous microphthalmia.

Adult↗
PubMed1984

Aniridia: enzyme studies in an 11p--chromosomal deletion.

A patient with aniridia and an interstitial deletion of the bands p13-p14 of the short arm of chromosome 11 was studied to determine the relative locations of the gene(s) encoding for the aniridia-Wilms' tumor association with other genes on the same chromosome. Quantitative analysis was performed on the red blood cell enzymes lactic acid dehydrogenase-A (LDH-A) and catalase, the genes for which are located on the short arm of chromosome 11. The activity of LDH-A was normal; the activity of catalase was reduced to approximately half normal. This evidence supports loci for the genes encoding for both catalase and the aniridia-Wilms' tumor association within the bands p13-p14 of the short arm of chromosome 11; the normal activity of LDH-A supports a locus outside this region.

Catalase↗
PubMed1983

Hereditary posterior microphthalmos with papillomacular fold and high hyperopia.

Five patients had a bilateral hereditary ocular syndrome composed of posterior microphthalmos with a papillomacular fold and high hyperopia. Anterior segment dimensions were near normal; the vitreous compartment was markedly fore-shortened. A papillomacular retinal fold extending from the center of the fovea toward the optic nerve head was present. Visual acuity ranged from 0.05 (20/400) to 0.6 (20/33); refractive errors ranged from + 11.25 to + 17.50 diopters. An autosomal recessive pattern of inheritance is postulated.

Adult↗
PubMed1983

Genetics in pediatric ophthalmology.

Genetic factors are becoming increasingly important causes of both congenital and acquired eye disease in the pediatric age group. Referral to an ophthalmologist is important both for global genetic disorders potentially affecting the eye and for eye disorders that may be diagnostic for genetic disease.

Abnormalities, Multiple↗
PubMed1983

Discriminant analysis of acquired esotropia surgery. Predictor variables for short- and long-term outcomes.

In a retrospective study, a computer-based stepwise discriminant analysis was used to create a biostatistical model of the results of surgery in acquired esotropia. One hundred seventy-two patients who had bilateral medial rectus muscle recession as an initial operative procedure with at least 6 months postoperative follow-up were studied. The outcome groups for the discriminant analysis were based on the ocular deviation 6 weeks after the first surgery and at the patient's last visit, or the presence or absence of stereopsis at the last visit. With respect to the two predominant ocular deviation groups (Esotropia or Success) 6 weeks after surgery, 11 independent variables were analyzed; those determined to be prognostic of the outcome grouping were refractive error of the left eye and preoperative deviation, in that order. With respect to ocular deviation at last visit, 146 patients were followed for over 2 years and were last examined when over 5 years of age; of the 12 independent variables analyzed, postoperative deviation at 6 weeks, refractive error of the right eye, and age of onset were predictive. With respect to stereopsis, 126 patients had similar follow-up; of the 11 independent variables analyzed, only postoperative deviation at 6 weeks was prognostic. The results indicate that in patients with acquired esotropia the postoperative deviation is the most important prognostic factor for both the maintenance of ocular alignment and the status of stereopsis; refractive error and the age of onset of the esotropia influence the ocular alignment at the last visit.

Age Factors↗
PubMed1983

Discriminant analysis of congenital esotropia surgery. Predictor variables for short- and long-term outcomes.

In a retrospective study, a computer-based stepwise discriminant analysis was used to create a biostatistical model of the results of surgery in congenital esotropia. One hundred fifty-seven patients who had bilateral medial rectus muscle recession as an initial operative procedure with at least 6 months postoperative follow-up were studied. The outcome groups for the discriminant analysis were based on the ocular deviation 6 weeks after the first surgery and at the patient's last visit, or the presence or absence of stereopsis at the last visit. With respect to the two predominant ocular deviation groups (Esotropia or Success) 6 weeks after surgery, 11 independent variables were analyzed; those determined to be prognostic of the outcome grouping were preoperative deviation, millimeters of medial rectus muscle recession, and interval between the onset of strabismus and surgery. With respect to ocular deviation at last visit, 105 patients were followed for over 2 years and were last examined when over 5 years of age; of the 12 independent variables analyzed, only postoperative deviation at 6 weeks was predictive. With respect to stereopsis, 94 patients had similar follow-up; of the 12 independent variables analyzed, preoperative deviation and age at surgery were prognostic. The results indicate that a smaller preoperative deviation and earlier surgical intervention increase the probability of achieving some degree of stereopsis in patients with congenital esotropia.

Age Factors↗