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Biomedical subjects

K F Damji

Publications and source records attributed to K F Damji.

At least 19 recordsLinked to original sources
PubMed2001

Demonstration of retroiridal extension of an epithelial membrane by ultrasound biomicroscopy: a clinicopathologic correlation.

PURPOSE: To report the utilization of ultrasound biomicroscopy (UBM) in identifying the extension into the posterior segment of an epithelial membrane, as correlated by the histopathologic findings. METHOD: Case report. UBM findings before enucleation with histopathologic correlation. RESULTS: UBM demonstrated a membrane tracking from the posterior iris surface over the ciliary body and towards the retina. Light microscopic examination disclosed the epithelial nature of this membrane. CONCLUSION: UBM can identify extension of an epithelial membrane into the posterior segment and thereby guide the approach to surgical management.

Aged↗
PubMed2001

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.

BACKGROUND: Leber's congenital amaurosis (LCA) represents the earliest and severest form of retinal dystrophy leading to congenital blindness. A total of 20% of children attending blind schools have this disease. LCA has a multigenic basis and is proving central to our understanding of the development of the retina. We describe the clinical and molecular genetic features of four inbred pedigrees from neighbouring remote villages in northern Pakistan, in which some of the affected members have concurrent keratoconus. METHODS: History-taking and physical and eye examinations were performed in the field. Venipuncture, DNA extraction, studies of linkage to known LCA genes, automated sequencing and polymorphism analyses for haplotype assessments were done. RESULTS: We examined 12 affected and 15 unaffected family members. By history, there were an additional nine blind people in the four pedigrees. In each pedigree a consanguineous marriage was evident. We found a homozygous nonsense mutation in the AIPL1 gene, which replaces a tryptophan with a stop codon (Trp278X). The phenotype is severe and variable, despite the common molecular genetic etiology in each family. Affected patients had hand motion to no light perception vision and fundus findings ranging from maculopathy to diffuse pigmentary retinopathy. Three affected members had definite keratoconus, and two were suspects based on mild cone formation in the cornea of at least one eye. INTERPRETATION: We have identified four Pakistani families with a severe form of LCA that is associated with severe keratoconus in some affected members. The molecular etiology in all four families is a homozygous nonsense mutation, Trp278X, in the photoreceptor-pineal gene AIPL1. To our knowledge, this is one of the first phenotype-genotype correlations of AIPL1-associated LCA.

Adaptor Proteins, Signal Transducing↗
PubMed2001

Familial occurrence of pigment dispersion syndrome.

BACKGROUND: Pigment dispersion syndrome affects up to 4% of the white population. It is characterized by the presence of transillumination defects, Krukenberg's spindle and dense trabecular meshwork pigmentation. Open-angle glaucoma will develop in as many as 50% of affected patients. In this study we describe the familial occurrence of pigment dispersion syndrome in six North American pedigrees and the phenotypic characteristics with respect to pigment dispersion syndrome and glaucoma. METHODS: Probands with pigment dispersion syndrome were identified in glaucoma clinics at university eye centres in Ottawa and Durham, NC. Families with two or more affected members were evaluated. All willing members in each family underwent a thorough clinical examination and were classified as affected with pigment dispersion syndrome, suspect or unaffected. The previous medical records were reviewed to obtain the past medical and ocular history, including risk factors for glaucoma. RESULTS: All six families are white. Three families show at least two generations of affected members. Of the 43 subjects examined 58% were women. All 14 affected members showed moderate to heavy trabecular meshwork pigmentation and either Krukenberg's spindle or transillumination defects. The affected members were also considerably more myopic (mean spherical equivalent for the right eye -4.72 dioptres) than the suspect group or the unaffected group (mean spherical equivalent -0.79 D and +1.19 D respectively) (p < or = 0.001), and the intraocular pressure was higher for the affected than the unaffected group (mean for the right eye 20 mm Hg vs. 16 mm Hg) (p = 0.004). Half of those affected also had open-angle glaucoma. INTERPRETATION: We have identified and phenotypically characterized six North American families with autosomal dominant pigment dispersion syndrome. Our ultimate goal is to identify the gene(s) that causes this disorder in order to clarify its molecular etiology and pathophysiology. This may give rise to a molecular classification of the disease as well as provide the foundation for genetic testing and new treatment approaches.

Adult↗
PubMed2001

Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma.

OBJECTIVE: In patients with dominant optic atrophy (DOA, Kjer type), excavation of the optic nerve develops, and these patients may be misdiagnosed as having normal tension glaucoma (NTG). This study examined disc morphologic features in patients with DOA and explored features that help distinguish this condition from NTG. DESIGN: Noncomparative, observational case series. PARTICIPANTS: Patients with DOA who were seen at the Duke University Eye Center between 1987 and 1996 and who had bilateral optic nerve photographs. METHODS: Retrospective chart review of the results of visual acuity testing, visual field testing by Goldmann perimetry, color vision testing, intraocular pressure measurement, and observation of bilateral optic nerve photographs. MAIN OUTCOME MEASURES: Appearance of the optic disc and peripapillary zone in patients with DOA. RESULTS: Nine patients were identified. The mean age at the time of evaluation was 28 years (range, 11-62 years). Most patients had a mild to moderate reduction in visual acuity. Color vision as tested with Hardy-Rand-Rittler plates was reduced (4.0/10 +/- 4.2/10). A cup-to-disc ratio of more than 0.5 was observed in at least one eye of eight patients. A temporal wedge-shaped area of excavation was observed in 14 of the 18 eyes studied. Moderate to severe temporal pallor was observed in all of the eyes. Pallor of the remaining (noncupped) neuroretinal rim was also observed consistently, ranging from mild to moderate. A gray crescent and some degree of peripapillary atrophy were noted in all eyes. CONCLUSIONS: Several clinical features, including early age of onset, preferential loss of central vision, sparing of the peripheral fields, pallor of the remaining neuroretinal rim, and a family history of unexplained visual loss or optic atrophy, help to distinguish patients with DOA from those with NTG.

Adolescent↗
PubMed2001

Intraocular pressure decrease after phacoemulsification in patients with pseudoexfoliation syndrome.

PURPOSE: To determine the intraocular pressure (IOP) response to phacoemulsification cataract extraction with posterior chamber intraocular lens (PC IOL) implantation in patients with pseudoexfoliation syndrome. SETTING: Eye clinics at the University of Ottawa Eye Institute, Ottawa, Ontario, Canada. METHODS: A retrospective cohort study design assigned patients to 1 of 3 subgroups: pseudoexfoliation syndrome (PEX) (n = 21), primary open-angle glaucoma (POAG) control (n = 23), and cataract control (n = 23). Inclusion criteria consisted of age older than 50 years, open angle by gonioscopy, and a cataract requiring phacoemulsification. The IOP response was determined at intervals up to 18 months. RESULTS: Postoperative IOP changes from baseline in the PEX group were -1.81, -4.52, and -2.31 mm Hg at 3, 6, and 12 months, respectively. The changes in the POAG control group were -2.22, -2.32, and -1.88 mm Hg, respectively, and in the cataract control group, -2.49, +0.45, and +0.28 mm Hg. Patients in the PEX group had a reduction in IOP from baseline at all postoperative measurements. That reduction was significantly greater than in the POAG and cataract control groups at 6 months (P =.012 and P =.002, respectively) and 12 months (P =.001 and P =.050, respectively). CONCLUSIONS: Patients with pseudoexfoliation syndrome had a postoperative IOP reduction from baseline at all measurements and a significantly greater reduction than patients in the POAG and cataract control groups at 6 and 12 months. Phacoemulsification cataract surgery with PC IOL implantation may be effective in managing patients with pseudoexfoliation syndrome who have elevated IOP and visually significant cataract but no advanced optic nerve damage.

Aged↗
PubMed2001

Changes in measured intraocular pressure after hyperopic photorefractive keratectomy.

PURPOSE: To investigate the effect of hyperopic photorefractive keratectomy (PRK) on intraocular pressure (IOP) measurements. SETTING: University of Ottawa Eye Institute, Ottawa Hospital, Ottawa, Canada. METHODS: In this retrospective cohort study, IOP and central corneal thickness (CCT) were measured preoperatively and at 1, 2, 3, 6, 12, 18, and 24 months in 191 eyes that had hyperopic PRK with the VISX Star excimer laser. All corrections applied were between +1.00 and +6.50 diopters (D) of sphere and less than 3.75 D of cylinder. RESULTS: At all postoperative examinations, the mean IOP in the hyperopic PRK group was 1.0 to 1.8 mm Hg lower than the preoperative IOP (P <.001). A large range of IOP changes was found across the population; eg, at 6 months, 49% of the eyes had a change in IOP from baseline of at least +/-3 mm Hg. A mean reduction of 19 microm of CCT was found with pachymetry after surgery (P < .001). The change in IOP readings postoperatively was not correlated with age, sex, keratometric readings, or applied correction. Changes in IOP were strongly correlated with preoperative IOP at all time points and with preoperative CCT at 18 and 24 months (P < .001). After hyperopic PRK, the measured IOP was more likely to increase in patients with preoperative IOPs less than 14.5 mm Hg and more likely to decrease in patients with preoperative IOPs above 14.5 mm Hg. CONCLUSION: Changes in IOP after hyperopic PRK were similar to changes after myopic PRK, despite only minimal changes in the CCT. This suggests that hyperopic PRK results in biomechanical effects that modify the elastic properties of the cornea beyond the changes in rigidity expected from central corneal thinning. There was a strong negative correlation between the measured preoperative IOP and the change in IOP postoperatively that was likely the result of regression of the mean effect.

Cohort Studies↗
PubMed2001

Pseudoexfoliation syndrome in Icelandic families.

AIM: To examine the distribution and clinical ophthalmic characteristics of pseudoexfoliation syndrome (pseudoexfoliation) and glaucoma in Icelandic families. METHODS: Icelandic families containing three or more members aged 70 or older with at least one member with pseudoexfoliation were identified. All family members over age 45 were invited to participate. Visual acuity, Goldmann applanation tonometry, gonioscopy, slit lamp examination before and after dilatation, and dilated fundus examination were performed on all available family members. Pertinent data were obtained from medical records, including ophthalmic history and a medical history of cardiovascular disease, cerebrovascular disease, systemic hypertension, and diabetes mellitus. Participants were classified according to affected status for pseudoexfoliation, glaucoma, and age related macular degeneration. RESULTS: Six families were identified who met the criteria for entry into the study. Of 94 family members who were invited to participate 82 were enrolled (87%). Of these 25 (30%) had pseudoexfoliation syndrome, 51 (62%) were unaffected, and six (7%) were suspects. At least one individual with pseudoexfoliation was identified in the second generation of every family. A parent with pseudoexfoliation was identified in all cases either by examination (4/6) or a review of ophthalmic records (2/6). In all cases the mother was the affected parent. The prevalence of glaucoma was significantly greater in the group with pseudoexfoliation (p <0.0001). Although the presence of age related macular degeneration (ARMD) was highly associated with the presence of pseudoexfoliation, the significance was lost after correction for age (p = 0.69). Although the sample size was small, no association between pseudoexfoliation affected status and cardiovascular disease, cerebrovascular disease, systemic hypertension, or diabetes mellitus was found. CONCLUSIONS: Multiple Icelandic families with pseudoexfoliation in two generations were identified. In all cases where determination was possible, transmission to the second generation was through an affected parent. In each case the affected parent was the mother. Pseudoexfoliation was strongly associated with the presence of glaucoma, but was not associated with either ARMD or systemic disease in this study. These data clearly indicate that pseudoexfoliation is a familial condition and although not conclusive, supports the hypothesis that pseudoexfoliation syndrome is genetically inherited.

Aged↗
PubMed2000

Familial occurrence of artefactual ocular hypertension from thick corneas and of primary open angle glaucoma in a French Canadian kindred.

We describe the coexistence of artefactual ocular hypertension due to increased central corneal thickness (CCT>585 microm), with primary open angle glaucoma (POAG) in a French Canadian kindred. Seventeen members of the family were examined and classified as to their glaucoma status. The mean CCT for our glaucoma patients (580 microm; n=5) and that for normals (552 microm; n=6) were within two standard deviations of the mean value provided in the literature (531 microm +/- SD=29 microm). The mean CCT of 611 microm for the suspect group (n=6) was considerably higher than for the glaucoma and normal groups. All but one of the suspects were classified as ocular hypertensives on the basis of high intraocular pressures (IOPs). When the IOPs for these patients (mean 22.6 mmHg) were corrected for their CCTs, all had pressures of <21 mmHg (mean 16.4 mmHg). Ten of the seventeen family members had thick CCTs, and transmission of thick corneas was seen in two generations. A number of individuals in this family had optic nerve head drusen (9/17) and the mean CCT of these individuals (601 microm) was higher than the mean CCT (560 microm) of the group without drusen (P=0.020 by t test). Artefactual ocular hypertension and POAG can be present in different members of the same family. The presence of a thick cornea appears to be an inherited trait and may be associated with the presence of optic nerve drusen. This association suggests a developmental relationship between thick corneas and optic nerve head drusen which needs to be studied further.

Aged↗
PubMed1999

Childhood-onset primary open angle glaucoma in a Canadian kindred: clinical and molecular genetic features.

OBJECTIVE: To describe the clinical features and identify the molecular etiology of childhood-onset primary open angle glaucoma (POAG) in a Canadian kindred. METHODS: Members of a Canadian Caucasian family with POAG were examined and DNA obtained. Single-strand conformation polymorphism analysis was performed using reported primers from exon 3 of the myocilin gene. A single-stranded conformation polymorphism was characterized by polymerase chain reaction-based sequencing. RESULTS: Two affected half-sibs had onset of severe glaucoma at age 3 and 9. Their mother had lost vision in one eye from glaucoma by age 17. All three affected subjects had undergone bilateral glaucoma filtering surgery. Both fathers were unaffected. A single-stranded conformation polymorphism was identified in the mother and the two affected daughters and was absent in one father. A single base change from C-->T at nucleotide position 1109 was identified in the affected members of the family by direct sequencing. This mutation, which causes a nonconservative amino acid change (Pro370Leu), was not found on 192 normal chromosomes from Caucasian individuals. CONCLUSION: We report a Canadian family with childhood-onset, severe POAG due to a mutation in the myocilin gene.

Adult↗
PubMed1999

Selective laser trabeculoplasty v argon laser trabeculoplasty: a prospective randomised clinical trial.

AIMS: To compare the effectiveness of selective laser trabeculoplasty (SLT, a 532 nm Nd:YAG laser) with argon laser trabeculoplasty (ALT) in lowering the intraocular pressure (IOP) in patients with medically uncontrolled open angle glaucoma. METHODS: A prospective randomised clinical trial was designed. Patients were randomised to treatment with either SLT or ALT and were evaluated at 1 hour, 1 week, 1, 3, and 6 months post-laser. RESULTS: There were 18 eyes in each group. Baseline characteristics were similar in both groups. In the SLT group the mean IOP at baseline, 1, 3, and 6 months was 22.8 (SD 3.0), 20.1 (4.6), 19.3 (6.0), and 17.8 (4.8) mm Hg, respectively. In the ALT group, the mean IOP at baseline, 1, 3, and 6 months was 22.5 (3.6), 19.5 (4.7), 19.6 (5.6), and 17.7 (3.3) mm Hg, respectively. There was a greater anterior chamber reaction, 1 hour after SLT v ALT (p< 0.01). Patients with previous failed ALT had a better reduction in IOP with SLT than with repeat ALT (6.8 (2. 4) v 3.6 (1.8) mm Hg; p = 0.01). CONCLUSION: SLT appears to be equivalent to ALT in lowering IOP during the first 6 months after treatment. There is a slightly greater anterior chamber reaction 1 hour after SLT. Patients with previous failed ALT had a significantly greater drop in IOP when treated with SLT v ALT. These results need to be confirmed with a larger sample size.

Adult↗
PubMed1999

Advances in molecular genetics of glaucoma: a perspective for the clinician.

Extraordinary progress has been made over the last 5 years in improving our understanding of the molecular causes of various glaucomas. Identification of the myocilin gene and of 5 additional genetic loci that play a role in development of primary open angle glaucoma provides us with an opportunity to reclassify this complex phenotype based on underlying cause of disease. Clinicians who obtain a detailed family history from their patients and who have referred families with glaucoma to laboratory investigators are at the forefront of this revolution in molecular genetics. As a result, all clinicians will soon be poised to profit from genetic discoveries by being able to order diagnostic tests that will identify specific genetic mutations. These mutations will provide a detailed understanding of the natural history of the patient's glaucoma, as well as information for genetic counseling. Individuals at risk in the family will be able to be identified, permitting closer follow-up and earlier institution of glaucoma therapy. A new understanding of pathophysiology is developing and will provide the basis for more rational pharmacological and gene therapy approaches in the future. The hope of primary prevention for various glaucomas, once a distant dream, may become reality within our lifetimes.

Chromosomes, Human, Pair 1↗
PubMed1999

Familial occurrence of pseudoexfoliation in Canada.

BACKGROUND: Genetic factors may play an important role in pseudoexfoliation syndrome. We describe the familial occurrence of pseudoexfoliation in Canadian families. METHODS: Probands with pseudoexfoliation were referred to a tertiary care glaucoma service in Ottawa because of a family history of pseudoexfoliation or glaucoma, or both. Probands and family members who agreed to participate underwent a systematic interview and eye examination. The pseudoexfoliation status was classified as affected, suspect or unknown based on preestablished criteria for the diagnosis of pseudoexfoliation and glaucoma. RESULTS: Thirty-four members of 10 families were assessed (18 affected, 2 suspect and 14 status unknown). Six families had two or more generations with pseudoexfoliation, and four families had one generation affected. There was a predominance of females among the affected subjects (17:1), and transmission in all cases appeared to be maternal. Eight of the families were of Irish/Scottish ancestry. Nine (50%) of the affected subjects had cardiovascular disease. Affected subjects tended to be older than suspects and those whose status was unknown (mean age 77, 67 and 55 years respectively). Seven subjects were affected unilaterally and 11 bilaterally. Affected subjects had moderate angle pigmentation in both eyes (mean +2.7, where 0 = no pigment and +4 = dense homogeneous pigment). The mean intraocular pressure in both eyes was higher for the affected subjects (23.1 [standard deviation (SD) 8.6] mm Hg) than for the suspects (16.8 [SD 6.1] mm Hg) and those of unknown status (16.8 [SD 2.9] mm Hg). An enlarged cup:disc ratio was seen in the affected subjects (mean 0.62). Eleven (61%) of the affected subjects had open angles on gonioscopy, and five had occludable angles and required peripheral iridectomy. Ten (56%) of the affected subjects were classified as having glaucoma, and 14 (78%) had evidence of cataract formation in at least one eye. INTERPRETATION: Pseudoexfoliation appears to be transmitted matrilineally, which raises the possibility of mitochondrial inheritance, X-linked inheritance or autosomal inheritance with genomic imprinting. A larger study of families with pseudoexfoliation is necessary to clarify the mode of transmission and to identify the gene(s) involved in the etiology of this disorder.

Adult↗
PubMed1998

Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease.

DNA pooling is an efficient method to rapidly perform genome-wide linkage scans in autosomal recessive diseases in inbred populations where affected individuals are likely to be homozygous for alleles near the disease gene locus. We wanted to examine whether this approach would detect linkage in autosomal dominant (AD) disorders where affected individuals may share one allele identical by descent at loci tightly linked to the disease. Two large outbred pedigrees in which the AD diseases familial venous malformation (FVM) and hereditary hemorrhagic telangiectasia (HHT1), linked to 9p and 9q, respectively, were investigated. Separate pools of DNA from affected (n = 21 for FVM and 17 for HHT1) and unaffected family members (n = 9 FVM and HHT1), and 25 unrelated population controls were established. Polymorphic markers spanning chromosome 9 at approximately 13.5-cM intervals were amplified using standard PCR. Allele quantitation was performed with a fluorimager. Visual inspection of allele intensities and frequency distributions suggested a shift in frequency of the most common allele in the affecteds lane when compared to control lanes for markers within 30 cM of the FVM and HHT1 loci. These subjective assessments were confirmed statistically by testing for the difference between two proportions (one-sided; P < or = 0.05). When using population controls, the true-positive rates for FVM and HHT1 were 5/5 and 2/5 markers, respectively. False-positive rates for FVM and HHT1 were 3/9 and 2/9, respectively. In both AD diseases investigated, quantitative DNA pooling detected shifts in allele frequency, thus identifying areas of known linkage in most cases. The utility of this technique depends on the size of the pedigree, frequency of the disease-associated allele in the population, and the choice of appropriate controls. Although the false-positive rate appears to be high, this approach still serves to reduce the amount of overall genotyping by about 60%. DNA pooling merits further investigation as a potential strategy in increasing the efficiency of genomic linkage scans.

Alleles↗