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Biomedical subjects

J B Bateman

Publications and source records attributed to J B Bateman.

At least 37 records · Page 2Linked to original sources
PubMed1996

Autosomal-dominant anomalies of the iris pigment epithelium.

PURPOSE: The authors document two families in which anomalies of the iris pigment epithelium occur as an autosomal dominant trait. METHODS: Eyes of members of two families were examined for the presence of anomalies of the iris pigment epithelium. RESULTS: In both families, anomalies characterized by iris pigment epithelial cysts and peripupillary ruffles were observed in successive generations. In one family, the proband was 3 months of age, and both cysts and ruffles were present in affected individuals. CONCLUSIONS: Anomalies of the iris pigment epithelium can be inherited in an autosomal-dominant pattern. The cystic and ruffled phenotypes represent variable expressivity and may be evident in infancy.

Cysts↗
PubMed1996

Orbital lesions in the blue rubber bleb nevus syndrome.

PURPOSE: To identify ophthalmologic manifestations of the blue rubber bleb nevus syndrome, a rare cutaneovisceral hemangiomatosis. METHODS: The authors report two patients with a diagnosis of blue rubber bleb nevus syndrome with orbital hemangiomas. RESULTS: In one patient, the orbital lesion presented with signs and symptoms similar to an orbital varix and in the other with lid ecchymosis from an eyelid lesion. CONCLUSION: Patients with the blue rubber bleb nevus syndrome may have vascular orbital lesions associated with intermittent proptosis. Ophthalmologists should be familiar with the syndrome and its life-threatening complication of gastrointestinal hemorrhage.

Adult↗
PubMed1996

Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa.

In order to elucidate the genetic basis of autosomal dominant retinitis pigmentosa (adRP) in a large eight-generation family (UCLA-RP09) of British descent, we assessed linkage between the UCLA-RP09 adRP gene and numerous genetic loci, including eight adRP candidate genes, five anonymous adRP-linked DNA loci, and 20 phenotypic markers. Linkage to the UCLA-RP09 disease gene was excluded for all eight candidate genes analyzed, including rhodopsin (RP4) and peripherin/RDS (RP7), for the four adRP loci RP1, RP9, RP10 and RP11, as well as for 17 phenotypic markers. The anonymous DNA marker locus D17S938, linked to adRP locus RP13 on chromosome 17p13.1, yielded a suggestive but not statistically significant positive lod score. Linkage was confirmed between the UCLA-RP09 adRP gene and markers distal to D17S938 in the chromosomal region 17p13.3. A reanalysis of the original RP13 data from a South African adRP family of British descent, in conjunction with our UCLA-RP09 data, suggests that only one adRP locus exists on 17p but that it maps to a more telomeric position, at band 17p13.3, than previously reported. Confirmation of the involvement of RP13 in two presumably unrelated adRP families, both of British descent, suggests that this locus is a distinct adRP gene in a proportion of British, and possibly other, adRP families.

Chromosome Mapping↗
PubMed1995

New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy.

Three females in 2 families were originally diagnosed with Spielmeyer-Vogt disease (SVD). The clinical course was different from SVD, with vision well preserved until age 10 years, and learning rather than visual difficulties the marker at the onset. Later, regression was unusually rapid, including global dementia, blindness, aphasia, and finally loss of self-feeding and ambulation between ages 12-18 years. MRI scan in patient 3 documented brain atrophy between ages 8-10 years. Position Emission Tomography (PET) scanning with fluorodeoxyglucose in patients 2 and 3 showed diffusely decreased or absent cortical glucose metabolism, comparable at ages 12 and 18 years, respectively, to the results found in the oldest typical SVD case tested at age 29 years. Fine granular inclusions, instead of the expected fingerprint inclusions, were demonstrated by electron microscopy of lymphocytes, conjunctiva, and skin. Usual markers on chromosome 16p12 were not present in the first family tested. The clinical course, with nonspecific initial behavior difficulties, late onset of visual decline followed by fast global regression, progressive brain atrophy, decreased cortical glucose utilization as shown by PET scanning, and granular tissue inclusions, suggest a genetic variant of SVD.

Adult↗
PubMed1995

Chromosomal assignment of the human gene for the cancer-associated retinopathy protein (recoverin) to chromosome 17p13.1.

The gene for the mouse recoverin protein (23 kDa photoreceptor-specific protein, S-modulin, or the Cancer-Associated Retinopathy protein) was recently assigned to mouse chromosome 11, closely linked to trp53. In this paper, the human gene for recoverin was localized to human chromosome 17 by Southern analysis of restriction digests of the DNA from mouse/human somatic cell hybrids. Using a 7 kb subclone of the human recoverin gene, a positive fluorescence in situ hybridization signal was demonstrated near the terminus of the short arm of chromosome 17 at position p13.1. The mapping of recoverin to this region of human chromosome 17, which contains a number of cancer-related loci, suggests a possible mechanism by which cancer-associated retinopathy occurs in humans.

Animals↗
PubMed1995

Vortex vein exit sites. Scleral coordinates.

PURPOSE: The authors determined the frequency and scleral coordinates of vortex vein exit sites in 46 autopsy eyes to provide topographic data that will enable surgeons to locate these vessels more precisely. METHODS: Forty-six autopsy eyes were examined under a dissecting microscope to measure the frequency of vortex veins and the cord lengths between the vortex vein scleral exit sites and the limbus, rectus muscle insertions, and oblique muscle insertions. RESULTS: Data from this study showed that 32 (70%) of the 46 individual eyes studied had more than four vortex veins. The number of second or third vortex veins found in the nasal quadrants was significantly higher than the number found in the temporal quadrants (P < 0.01). Statistical analyses of the measurements provided mean values for distances between vortex vein scleral exit sites and the three nearest extraocular muscle insertions; these positions among eyes were found to be relatively uniform (standard deviation, 0.7-2.5 mm). CONCLUSION: The authors suggest that the majority of adult eyes encountered by a surgeon will have more than four vortex vein exit sites and that more vortex veins may be expected in the nasal quadrants than in the temporal quadrants. This study delineates the locations of vortex vein exit sites so that surgeons can reliably predict their surface positions to avoid vessel laceration and its ensuing complications.

Anthropometry↗
PubMed1995

A retrospective study of eye disease among first grade children in Los Angeles.

BACKGROUND: The prevalence of ocular disease among children in one school district in Los Angeles, California was studied to better understand the types of eye disorders among this population as well as to develop appropriate preventive programs. METHODS: A computer-assisted retrospective analysis of date was performed from charts of 2,204 first grade children examined in the UCLA Mobile Eye Clinic. RESULTS: One or more ocular disorders were observed in 22.3 percent of the subjects. Uncorrected best monocular visual acuity was 20/40 or worse in 3.4 percent of the children. Refractive errors were diagnosed in 15.7 percent of the subjects, astigmatism in 7.6 percent, hyperopia in 6.2 percent, and myopia in 6.0 percent. Color vision deficiencies (red-green) were found in 2.6 percent of boys. The prevalences of heterophorias and heterotropias were 1.2 percent and 1.3 percent, respectively. CONCLUSIONS: The variety of ocular disorders diagnosed in this demographic setting attests to the importance of performing early and effective screening eye examinations for children.

Child↗
PubMed1994

Assignment of the zeta-crystallin gene (CRYZ) to human chromosome 1p22-p31 and identification of restriction fragment length polymorphisms.

zeta-Crystallin is a lens protein that has been associated with autosomal dominant congenital cataracts in guinea pigs and thus is a candidate for human congenital cataracts. We have assigned the zeta-crystallin gene (CRYZ) to human chromosome 1 using a Southern panel of 17 human-mouse somatic cell hybrids and regionally localized it to 1p22-p31 by fluorescence in situ hybridization. Five restriction fragment length polymorphisms were identified by analyzing the DNA from 10 unrelated, unaffected individuals. Our results will permit evaluation of its role in human cataractogenesis.

Alleles↗
PubMed1993

Growth of the human optic disk and nerve during gestation, childhood, and early adulthood.

We measured vertical and horizontal diameters of the optic disk and retrobulbar optic nerve in eyes from 95 patients on whom autopsies were performed at the UCLA Medical Center over a 20-year period. Ages at death ranged from 4.8 months' gestation to 21.9 years. Optic disk surface area and nerve cross-sectional area were calculated for each subject by using the formula for an ellipse. Approximately 50% of the growth of the optic disk and nerve occurs by 20 weeks' gestation, and 75% by birth; 95% of the growth occurs before the age of 1 year. All optic disk and nerve measurements correlate strongly (correlations > .67; P < .0001) with subject height and globe anteroposterior diameter. We applied our results to the current understanding of optic disk and nerve development, and compared them to previous clinical and pathologic studies of optic nerve dimensions in adults and older children.

Adolescent↗
PubMed1993

Ocular manifestations of the lacrimo-auriculo-dento-digital syndrome.

We studied a mother and daughter with an extremely rare constellation of signs and symptoms. One or both had absent lacrimal puncta, nasolacrimal duct obstruction, chronic dacryocystitis, dry eyes, and epiphora. Systemic findings included salivary gland hyposecretion, dental hypoplasia and dysplasia, cup-shaped ears with hearing loss, and digital anomalies. These findings are consistent with those of the lacrimo-auriculo-dento-digital syndrome, a genetic disorder. Our study supports the autosomal dominant inheritance of this syndrome, delineates the ophthalmic manifestations, and provides evidence that renal anomalies are part of the disorder.

Abnormalities, Multiple↗
PubMed1993

The effectiveness of daily wear contact lenses for the correction of infantile aphakia.

OBJECTIVE: To evaluate the effectiveness and safety of daily wear contact lenses in the treatment of infantile aphakia. DESIGN: A study of prognosis using a cohort followed up for a mean of 58 months. SETTING: All operations, contact lens care, and follow-up were conducted at a university referral center. PATIENTS: Of 111 children undergoing surgery for cataract between 1980 and 1990, 51 (68 eyes) met the criteria of age younger than 2 years at the time of surgery and of cataract of nontraumatic origin. Patients were evaluated for visual acuity, complications, number of contact lenses worn per year, and changes in contact lens refractive power per month. A subgroup of 28 eyes of patients undergoing surgery before age 7 months and followed up for at least 24 months was studied. INTERVENTION: Following cataract surgery, all patients were fitted with daily wear contact lenses. MAIN OUTCOME MEASURE: Final visual acuity and complications were studied. The distribution of mean contact lens power for each month of age was determined. RESULTS: During the follow-up period, no serious complications were encountered. The visual acuity outcome was better following bilateral cataract surgery than unilateral surgery (P < .001 using chi 2 analysis) and was comparable with that achieved with extended wear contact lenses. CONCLUSION: Daily wear contact lenses were found to be safe and effective in the treatment of infantile surgical aphakia. The daily care was easily learned by the parents.

Aphakia, Postcataract↗
PubMed1993

Mapping of aldose reductase gene sequences to human chromosomes 1, 3, 7, 9, 11, and 13.

Aldose reductase (alditol:NAD(P)+ 1-oxidoreductase; EC 1.1.1.21) (AR) catalyzes the reduction of several aldehydes, including that of glucose, to the corresponding sugar alcohol. Using a complementary DNA clone encoding human AR, we mapped the gene sequences to human chromosomes 1, 3, 7, 9, 11, 13, 14, and 18 by somatic cell hybridization. By in situ hybridization analysis, sequences were localized to human chromosomes 1q32-q42, 3p12, 7q31-q35, 9q22, 11p14-p15, and 13q14-q21. As a putative functional AR gene has been mapped to chromosome 7 and a putative pseudogene to chromosome 3, the sequences on the other seven chromosomes may represent other active genes, non-aldose reductase homologous sequences, or pseudogenes.

Aldehyde Reductase↗
PubMed1993

Assignment of tear lipocalin gene to human chromosome 9q34-9qter.

We assigned the gene for tear lipocalin to the long arm of human chromosome 9. Polyadenylated RNA was extracted from lacrimal gland. The coding region for tear lipocalin was amplified, sequenced and used to probe a panel of somatic cell hybrid DNA by Southern blot analysis. Regional mapping was accomplished by probing a panel of subfragments of the indicated chromosome. Restriction of genomic DNA with EcoRI failed to reveal any bands corresponding to the human tear lipocalin gene in mouse-human hybrids all of which lack chromosome 9. Southern blot analysis of human-hamster hybrids demonstrated a human 5.6 kb TaqI restriction fragment that segregated to the q34-qter region of chromosome 9 and assigned the gene for tear lipocalin to this region. Structurally homologous proteins of the lipocalin family, human placental protein 14, human alpha 1 microglobulin, and human brain prostaglandin synthase, have been mapped to this region. We suggest that the gene for tear lipocalin is part of an important lipocalin superfamily gene cluster on chromosome 9 within band q34.

Animals↗
PubMed1993

Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.

Norrie disease is a rare disease of newborn males caused by prenatal or perinatal retinal detachment, which may be associated with mental retardation, psychosis, and/or hearing loss. DXS7 (L1.28) and MAO A and B loci have been linked to the ND locus on the short arm of the X chromosome. Sequences homologous to OAT also have been mapped to the short arm of the X chromosome. We performed linkage analyses between the ND locus and one of the OAT-like clusters of sequences on the X chromosome (OATL1), using a ScaI RFLP in a ND family, and increased the previously calculated lod score (z) to over 3 (3.38; theta = 0.05). Similarly, we calculated a lod score of 4.06 (theta = 0.01) between the OATL1 and DXS7 loci. Alone, the OATL1 ScaI RFLP system is expected to be informative in 48% of females. If this system were used in combination with the DXS7 TaqI polymorphism, 71% of females would be informative for at least one of the markers and 21% would be informative for both. Because the OATL1 ScaI RFLP is a relatively common polymorphism, this system should be useful for the identification of ND carriers and affected male fetuses and newborns.

DNA↗
PubMed1992

Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.

A highly informative microsatellite marker, DXS426, which maps proximal to DXS7 in the interval Xp11.4-Xp11.23, has been used to refine further the localisation of the gene for Norrie disease (NDP). The results from a multiply informative crossover localize the NDP gene proximal to DXS7. In conjunction with information from 2 NDP patients who have a deletion for DXS7 but not for DSX426, our data indicate that the NDP gene lies between DXS7 and DXS426 on proximal Xp.

Base Sequence↗