Search PubMed⌕ Search

Biomedical subjects

A C Bird

Publications and source records attributed to A C Bird.

At least 145 records · Page 8Linked to original sources
PubMed1995

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.

OBJECTIVE: To define the phenotype of a retinal dystrophy associated with a 4-base pair insertion at codon 140 of the peripherin/RDS gene. PATIENTS: Six affected members spanning two generations of a single family were examined. Five were studied in detail electrophysiologically and psychophysically. METHODS: Psychophysical testing included color vision testing, photopic and scotopic static threshold perimetry, and dark adaptometry. Electrophysiological testing included flash and pattern electroretinography, as well as electrooculography. RESULTS: Clinical findings ranged from subtle pigmentary changes at the level of the retinal pigment epithelium to more widespread pigmentary changes associated with choroidal neovascularization. Those with severe fundus changes exhibited greater abnormalities in psychophysical and electrophysiological testing than those with minimal fundus changes. CONCLUSIONS: This particular peripherin/RDS gene mutation is associated with dominantly inherited pattern dystrophy of the retina. The phenotypic expression is variable in a manner not explained by age.

Aged↗
PubMed1995

Detection of tumor-associated antigens in sera of canine cancer patients by monoclonal antibodies generated against canine mammary carcinoma cells.

Two murine monoclonal antibodies (MAbs), 1A10 and SB2, generated against a canine mammary carcinoma cell line, were used in a competitive enzyme-linked immunosorbent assay (ELISA) to measure tumor-associated antigens (TAAs) in canine serum samples. Sera were tested from disease-free dogs and from dogs diagnosed with mammary carcinoma, non-mammary carcinoma, sarcoma, benign mammary tumor, benign non-mammary tumor, or non-neoplastic disease. Serum antigen concentrations measured by ELISA were expressed as inhibitory units (IU). The upper limit of normal, defined as the mean plus 2 SD of the TAA concentration in disease-free dogs, was 20 IU with antibody 1A10 and 22 IU with antibody SB2. Compared with disease-free dogs, the frequency of TAA-positive sera was significantly greater (P < 0.05) among dogs with mammary or non-mammary carcinoma when tested with MAbs 1A10 or SB2, and also with sarcoma when tested with MAb SB2. Testing a serum sample with both antibodies rather than just one increased the sensitivity of the competitive ELISA for TAA detection. The presence of TAA in serum might serve as a useful marker for certain types of carcinomas or sarcomas in canine cancer patients.

Animals↗
PubMed1995

Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture.

PURPOSE: To assess the state of knowledge of photoreceptor dystrophies. METHODS: The current literature concerning photoreceptor dystrophies is reviewed, and their potential impact on concepts of pathogenesis of disease and clinical practice is assessed. RESULTS: As a result of cooperative investigative work between researchers in various disciplines, major advances in the classification of retinal photoreceptor dystrophies have been made. Until recently, classification of retinal dystrophies was based on clinical observation alone, and it was evident that this method was imprecise and of limited value. Largely through the work of molecular biologists, it has been shown that diseases clinically indistinguishable from one another may be a result of mutations on a variety of genes; conversely, different mutations on a single gene may give rise to a variety of phenotypes. It is reassuring that it is possible to generate concepts as to potential pathogenetic mechanisms that exist in retinal dystrophies in light of this new knowledge. More important for the clinician is the potential impact on clinical practice. There is as yet no therapy by which the course of most of these disorders can be modified. However, there is a considerable body of work in which therapeutic intervention is being explored, and many researchers now see treatment as a justifiable objective of their work. CONCLUSIONS: Knowledge of the causative mutation is of value to the clinician in that it provides a precise diagnosis and allows the distribution of the abnormal gene to be documented fully within a family. To take full advantage of the opportunities provided by current research, clinical practice will have to be modified, particularly if therapy can be justified.

Amino Acid Sequence↗
PubMed1995

Recurrent acute multifocal placoid pigment epitheliopathy in two cousins.

PURPOSE/METHODS: To test the hypothesis that there may be inherited predisposition in acute multifocal placoid pigment epitheliopathy, HLA typing was undertaken in two cousins with recurrent disease. RESULTS/CONCLUSIONS: Both cousins were shown to have HLA antigens DR2 but not B7; both antigens have been associated with this disorder previously. This finding is compatible with the concept that DR2 may be associated with an increased risk of recurrent disease.

Acute Disease↗
PubMed1995

The role of molecular genetics in the prenatal diagnosis of retinal dystrophies.

Inherited retinal dystrophies are important causes of incurable blindness in developed countries. Advances in molecular genetics promise significant improvements in their management. Immediate benefits of present knowledge are presymptomatic and prenatal diagnosis in selected cases. To study the predictive power of these techniques a simulated genetic risk estimation was undertaken in a cone-rod retinal dystrophy pedigree known to be linked to chromosome 19. Using data on five fully informative, flanking DNA markers, phenotype was correctly assigned with only a 2% probability of error. If the two most closely linked markers were found to be uninformative, this error probability remained unchanged. Using genetic risk calculations and direct mutation detection many retinal dystrophies could now be identified by prenatal diagnosis.

Blindness↗
PubMed1995

Dominantly inherited drusen represent more than one disorder: a historical review.

Hutchinson-Tay choroiditis, Holthouse-Batten chorioretinitis, Doyne's honeycomb familial choroiditis and Malattia levantinese are various names which have been used to denote dominantly inherited drusen. Whether these represent one or more than one disorder remains unclear because of the quality of the illustrations and incomplete information in some of the original articles. The early descriptions of these various conditions have been reviewed. Evidence is presented that Doyne's honeycomb familial choroiditis and Malattia levantinese are disorders which can be distinguished from each other by clinical criteria.

Adult↗
PubMed1995

Foveal involvement and lack of visual recovery in APMPPE associated with uncommon features.

Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is commonly believed to be a benign disease with excellent visual prognosis. Identification of cases with poor visual outcome prompted this retrospective study of 33 eyes of 18 patients with this disorder. Loss of visual acuity at presentation was recorded in 25 eyes (76%), 22 of which had lesions at the fovea. Visual acuity quickly returned to normal or near normal levels (even when it was as poor as counting fingers at entry) in all but 7 eyes of 7 patients, in which visual acuity failed to recover to better than 6/24 over a period of several months. All these eyes had poor acuity and foveal involvement when first seen, and at least one of the following atypical features: age older than 60 years, unilaterality, an interval before involvement of the second eye of at least 6 months, recurrence of the disease, leakage from choroidal vein. One additional patient whose foveae were initially not involved lost vision in one eye because of the development of choroidal neovascularisation. Caution should be exercised in giving a prognosis in cases when the fovea is involved and the acuity markedly reduced, particularly if one or more atypical features is present.

Adolescent↗
PubMed1995

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.

Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. We have performed genetic linkage analysis on a five-generation British pedigree. Two-point linkage analysis showed significant linkage with nine microsatellite marker loci mapping to chromosome 6q. Multipoint analysis gave a maximum lod score of 11.8 (theta = 0.05) between D6S249 and D6S283. This region overlaps with that to which the gene for North Carolina macular dystrophy (MCDR1) has been assigned. However, given the range of differences in phenotype between these two retinal disorders, it is likely that different mutation mechanisms are responsible for each disease.

Atrophy↗
PubMed1995

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.

The genetic locus causing autosomal dominant retinitis pigmentosa (adRP) has recently been mapped in a large English family to chromosome 7p. Eight affected members of this family were studied electrophysiologically and psychophysically with dark adapted static threshold perimetry and dark adaptometry. The phenotypes observed fell into three categories: minimally affected with no symptoms, and normal (or near normal) electrophysiology and psychophysics; moderately affected with mild symptoms, abnormal electroretinograms, and equal loss of rod and cone function in affected areas of the retina; and severely affected with extinguished electroretinograms and barely detectable dark adapted static threshold sensitivities. The mutation in the gene on 7p causing adRP in this family causes regional retinal dysfunction with greatly variable expressivity ranging from normal to profoundly abnormal in a manner not explained by age.

Adult↗
PubMed1995

Distribution of fundus autofluorescence with a scanning laser ophthalmoscope.

BACKGROUND: Variation of fluorescence derived from lipofuscin in the retinal pigment epithelium has been recorded with age and in retinal diseases. Studies have been based largely on in vitro observations on eye bank eyes which has placed severe limitations on the data available. METHODS: A technique is described whereby in vivo imaging of autofluorescence of the fundus was achieved using a scanning laser ophthalmoscope. RESULTS: The optical characteristics, distribution, and variation with disease imply that the fluorescence is derived from lipofuscin in the pigment epithelium. Autofluorescence is shown to be abnormally high in certain inherited diseases, and low in the presence of retinal atrophy. CONCLUSION: This technique may be useful both in clinical practice and research. It may allow the detection of the abnormal phenotype in genetically determined disease at a time when other techniques may not. Longitudinal studies of age related macular disease would permit correlation between changes in the pigment epithelium and Bruch's membrane to be established.

Adolescent↗
PubMed1995

Ocular findings in Saudi Arabian patients with sickle cell disease.

AIM: This study was set up to determine whether or not retinal changes occur in sickle cell disease in Saudi Arabian subjects with either the Benin, which exists in the south western part of the kingdom, or Asian haplotypes in the east, and to compare the findings with those in sickle cell disease in Jamaica. METHODS: Retinal examination and fluorescein angiography were performed in 61 patients with SS disease (40 eastern, 20 south western, 1 central region) and 10 with sickle cell beta(0) thalassaemia. RESULTS: Peripheral retinal vascular changes were common, and a qualitatively abnormal vascular border believed to imply risk of proliferative sickle retinography (PSR) was significantly more common in south western SS patients and PSR was shown in one of these. There were no differences in visual acuity, the presence of peripheral retinal patches, or the circumferential or posterior extent of peripheral retinal vessel closure between SS disease and sickle cell beta(0) thalassaemia or between SS disease in the two regions. Compared with the Jamaican Cohort Study, > 180 degrees of the peripheral retinal vasculature was seen significantly less frequent, suggesting factors inhibiting vascular remodeling in Saudi patients in early life. CONCLUSION: Sickle cell disease in Saudi Arabia affects the retina and represents a potential threat to vision. Changes occur whatever the haplotype, and is similar to that observed in Jamaica.

Adolescent↗
PubMed1995

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

A clinical, psychophysical, and electrophysiologic study was undertaken of two autosomal dominant retinitis pigmentosa pedigrees with a genetic mutation assigned to chromosome 19q by linkage analysis. Members with the abnormal haplotype were either symptomatic with adolescent onset nyctalopia, restricted visual fields, and non-detectable electroretinographic responses by 30 years of age, or asymptomatic with normal fundus appearance and minimal or no psychophysical or electroretinographic abnormalities. There was no correlation in the severity in parents and their offspring. Pedigree analysis suggested that although the offspring of parents with the genetic mutation were at 50% risk of having the genetic defect, the risk of being symptomatic during a working lifetime was only 31%. Such bimodal phenotypic expressivity in these particular pedigrees may be explained by a second, allelic genetic influence and may be a phenomenon unique to this genetic locus. Genetic counselling in families expressing this phenotype can only be based on haplotype analysis since clinical investigations, even in the most elderly, would not preclude the presence of the mutant gene.

Adult↗
PubMed1995

Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.

Sorsby fundus dystrophy is an autosomal dominant disorder which both clinically and histopathologically bears striking similarities to age related macular degeneration, one of the leading causes of blindness in the developed world. Recent studies have suggested a genetic localisation of the disease to chromosome 22q in a large genetic interval of approximately 25 cM. Independent genetic linkage analysis in a six generation British pedigree confirms linkage to the chromosome 22q region. A maximum two point lod score of 7.09 with no recombination was obtained with marker D22S280. Haplotype data positioned the disease between loci D22S275 and D22S278, thus significantly reducing the region on chromosome 22q where the gene is located.

Chromosomes, Human, Pair 22↗
PubMed1995

Fine matrix mapping of the macular region in normal subjects.

Using a Humphrey field analyzer and fine matrix mapping, we measured photopic and scotopic thresholds for a blue light stimulus at 100 locations on a 9 degrees by 9 degrees matrix of 1 degree spacing centered at the fovea in 14 normal subjects. Additionally, trial lenses were used to investigate the effect of refractive error. Under photopic conditions the mean sensitivity varied by less than 1 dB over this region. Under scotopic conditions the central values were reduced in sensitivity by 15 dB compared with those at 4 degrees eccentricity. Defocus showed less than 1.2 dB loss with 1.00D of refractive error under photopic condition. The results reflect the properties of rod and cone photoreceptors and the effects of the rod mosaic near the fovea. This technique is a sensitive test of macular visual function.

Adult↗
PubMed1995

Colour contrast sensitivity in patients with age-related Bruch's membrane changes.

Patients with bilateral drusen as a manifestation of early age-related macular degeneration (AMD) may have minor psychophysically detectable visual defects in the presence of normal visual acuity. In a variety of retinal diseases, one of the earliest changes in visual processing is an impairment of normal colour vision. This study was undertaken to evaluate colour vision deficits in patients with macular drusen and to determine whether changes in colour contrast sensitivity may occur over time. In a prospective study, colour vision in 84 eyes of 84 patients aged 55-84 years (mean, 68.89 +/- 6.23 years) with macular drusen and clear media was tested using a computer graphics technique. A total of 47 patients were reviewed annually for up to 2 years and measurements were obtained at annual intervals. Colour contrasts sensitivity along protan, deutan and tritan colour confusion lines was determined at a foveal and a parafoveal region. The sensitivity to all stimuli showed large variations between patients. The thresholds for foveal blue-colour contrast sensitivity were elevated and increased during the review period. In contrast, there was no significant change in sensitivity with time for red and green at the foveal or parafoveal region. Tritan threshold changes suggest that the SW cone-receptor population is more susceptible to damage associated with early age-related macular disease than are red or green cones. The results indicate that blue colour contrast sensitivity determined over time may serve as a measure to assess the progression of age-related maculopathy prior to the manifestation of atrophic or exudative macular lesions associated with visual loss.

Aged↗
PubMed1994

Decreasing stromal iris pigmentation as a risk factor for age-related macular degeneration.

To evaluate iris color, change of iris color, and iris pigment epithelial defects as risk factors in age-related macular degeneration, we compared 101 patients with age-related macular changes with 102 control subjects in a case-control study. Three of 101 patients (3%) and four of 102 control subjects (4%) had epithelial iris defects. Light iris color during youth was reported by 51 of 101 patients (50.5%) and 42 of 102 control subjects (41.2%) (odds ratio, 1.46; P = .184). Of the 101 patients, 26 (25.7%) noticed their iris color to have become lighter during life compared with six of 102 control subjects (5.9%) (odds ratio, 5.5; P = .0001). At present examination, 63 of 101 patients (62.4%) had light irides compared with 43 of 102 control subjects (42.2%) (odds ratio, 2.27; P = .004). These results suggest that initial light iris color and iris pigment epithelial defects are not associated with an increased risk of age-related macular degeneration, whereas decreased stromal iris pigmentation may indicate a higher risk.

Aged↗