Association of a nonsynonymous single-nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritis.

OBJECTIVE: Giant cell arteritis (GCA) is the most common type of primary vasculitis. Matrix metalloproteinase 9 (MMP-9) is present in arterial lesions of GCA and may be involved in its pathogenesis. We investigated whether certain genotypes of 4 single-nucleotide polymorphisms (SNPs) of MMP-9 are overrepresented in patients with histologically confirmed GCA. METHODS: Four SNPs of MMP-9, rs3918242 in the promoter region and 3 nonsynonymous coding SNPs (rs3918252, rs17576, and rs2250889) were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis in 58 white patients for whom there was a clinical suspicion of GCA. Thirty of these patients had histologically confirmed GCA (group 1), and 28 patients had negative results of a temporal artery biopsy for GCA (group 2). Estimates of the genotype distributions of each of these SNPs in a white population were determined using publicly available genotype data for a panel of 23 individuals (group 3). RESULTS: Although 1 SNP was monomorphic in all 3 groups, we observed statistically significant differences in the genotype distributions for rs2250889 between group 1 and group 2 (P = 0.005) and between group 1 and group 3 (P = 0.009), but not between groups 2 and 3 (P = 0.965). CONCLUSION: These data derived from a sample of patients with GCA suggest that the G allele of MMP-9 polymorphism rs2250889 is overrepresented in patients with histologically confirmed GCA. Clearly, larger sample sizes will be necessary to confirm this suggestive association and better characterize a possible linkage disequilibrium structure among polymorphisms.

Multifocal ERG in ethambutol associated visual loss.

AIM: To determine the anatomical site and extent of electrophysiological dysfunction in patients with ethambutol associated visual loss. METHODS: A comparative case series. Four patients with ethambutol associated visual loss underwent multifocal electroretinography (mERG). Two patients had advanced visual loss while two had early signs of toxicity. The N1-P1, N1, P1 amplitudes, N1, and P1 latencies were compared to 10 age and sex matched controls. RESULTS: mERG abnormalities were detected in the ethambutol treated patients. The N1 amplitude was significantly lower in the ethambutol treated patients than in the control group. CONCLUSION: Ethambutol is possibly toxic to the retina, and not only the optic nerve. The multifocal ERG may be of value to diagnose and monitor patients taking ethambutol.

Fractionated stereotactic radiotherapy for parasellar meningiomas: a preliminary report of visual outcomes.

BACKGROUND/AIM: Fractionated stereotactic radiotherapy (FSRT) is a new treatment for brain tumours that are close to critical structures, such as the visual apparatus. This study aims to assess the visual outcomes for patients with parasellar meningioma following FSRT. METHODS: A retrospective, non-comparative case series of 13 patients with parasellar meningiomas who were treated in one institution with FSRT between January 1995 and January 2001. RESULTS: 13 patients (26 eyes) were followed for a mean of 2 years. Visual acuity improved in four eyes (12.5%), remained stable in 18 eyes (75%), and worsened in three eyes (12.5%). Visual field improved in 15 eyes (57%), remained stable in six eyes (23%), and worsened in four eyes (15%). No adverse visual outcome occurred as a result of radiation. CONCLUSION: These preliminary findings suggest that FSRT is a safe and effective treatment for parasellar meningiomas.

Amiodarone induced optic neuropathy.

AIM: To determine the clinical features of amiodarone induced optic neuropathy, which may help distinguish it from non-arteritic anterior ischaemic optic neuropathy. METHODS: Retrospective observational case series of patients diagnosed with amiodarone induced optic neuropathy at the neuro-ophthalmology service from March 1998 to February 2001. Amiodarone was discontinued after discussion with the patient's cardiologist. Visual acuity, colour vision, automated perimetry, and funduscopy were performed on initial and follow up examinations. RESULTS: Three patients with amiodarone induced optic neuropathy presented with mildly decreased vision, visual field defects, and bilateral optic disc swelling. Upon discontinuing the medication, visual function and optic disc swelling slowly improved in all three patients. CONCLUSION: Amiodarone induced optic neuropathy can present with visual dysfunction, and is typically a bilateral process. Upon discontinuation of amiodarone, slow resolution of optic disc swelling occurs and visual function improves in some patients.

The prevalence of cupping in end-stage arteritic and nonarteritic anterior ischemic optic neuropathy.

OBJECTIVE: To evaluate the prevalence of cupping in arteritic anterior ischemic optic neuropathy (AAION) and nonarteritic anterior ischemic optic neuropathy (NAION). DESIGN: Retrospective, observational case series. PARTICIPANTS: Three hundred one patients. METHODS: Review of clinical records and color fundus photographs. MAIN OUTCOME MEASURES: Photographic and clinical interpretation of optic nerve appearance. RESULTS: Ninety-two patients with AAION and 102 with NAION were included in the study. Disc photographs of 42 patients (48%) with AAION and 32 patients (31%) with NAION were available for reassessment. These were presented in a masked fashion along with a random sample of 27 disc pairs considered to be 'normal' and 27 disc pairs with 'established glaucoma' according to two examiners. Cupping was present in 92% of eyes with AAION secondary to giant cell arteritis and in 2% of eyes with NAION (kappa = 0.96; P < 0.001). CONCLUSIONS: The end-stage optic disc appearance in AAION secondary to giant cell arteritis is cupping, whereas segmental or diffuse pallor without cupping is the typical disc appearance after NAION.

Intraocular pressure changes after treatment for Graves' orbitopathy.

OBJECTIVE: To evaluate the change in intraocular pressure (IOP) in subjects with Graves' orbitopathy (GO) after orbital decompression, strabismus surgery, and orbital radiation. DESIGN: Retrospective case review. METHODS: The charts of 172 consecutive subjects from the Neuro-ophthalmology Service at Wills Eye Hospital (Philadelphia, PA) with GO who underwent either orbital decompression, strabismus surgery, or orbital radiation between 1994 and 1999 were analyzed. Subject age, gender, diagnosis of glaucoma in either eye, use of systemic steroids or topical glaucoma medications, procedure performed, and the preoperative and postoperative IOP (in primary position and upgaze) were evaluated. RESULTS: Of 116 eyes that underwent orbital decompression, the mean preoperative IOP was 21.6+/-4.6 mmHg (standard deviation) in primary position and 27.9+/-6.8 mmHg in upgaze. The postoperative IOP was 17.5 mmHg +/- 3.0 mmHg in primary position and 20.1+/-4.7 mmHg in upgaze, a decrease in IOP of 18.9% in primary position and 27.9% in upgaze (P<0.001). Subjects taking glaucoma medication or who had IOP greater than 21 mmHg demonstrated a significantly (P<0.001) greater reduction in IOP postoperatively. The mean preoperative IOP in the 32 subjects who had strabismus surgery was 18.5+/-2.8 mmHg (primary position), and 24.7+/-4.3 mmHg (upgaze). Postoperative IOP was 16.1 mmHg (primary position) and 16.9 mmHg (upgaze), a decrease of 2.4 mmHg (13.3%, P<0.01 in primary position) and 7.8 mmHg (31.2%, P<0.01 in upgaze). There was no statistically significant reduction in IOP after orbital radiation. CONCLUSIONS: In the selected subgroup of subjects with GO who required intervention, orbital decompression and strabismus surgery resulted in a significant reduction in IOP in the early postoperative period, especially in subjects with preoperative IOP greater than 21 mmHg.

Gaze-evoked amaurosis produced by intraorbital buckshot pellet.

OBJECTIVE: To report the first case of gaze-evoked amaurosis secondary to an intraocular foreign body and to highlight the characteristic clinical findings of patients with this symptom. DESIGN: Case report and review of the literature. METHODS: Case review, clinical history, electrophysiologic testing, and follow-up. MAIN OUTCOME MEASURES: Visual acuity, automated perimetry, and visual fields. RESULTS: A case of gaze-evoked amaurosis as a result of an intraorbital foreign body is described, and 19 additional cases of gaze-evoked amaurosis are reviewed from the English language literature. These cases share certain characteristics including good vision in primary position with deterioration of vision in eccentric gaze; concurrent objective pupillary abnormalities in eccentric gaze; stereotypic onset and recovery of vision; and funduscopic abnormalities consisting of disc edema and chorioretinal folds. CONCLUSIONS: Gaze-evoked amaurosis is a reliable sign of intraconal mass lesion. We report the first case of gaze-evoked amaurosis secondary to an intraorbital foreign body.

A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy.

PURPOSE: To determine if tobacco or alcohol consumption is associated with vision loss among sibships harboring pathogenic mitochondrial mutations associated with Leber hereditary optic neuropathy. METHODS: Retrospective case-control study with questionnaires obtained from both affected and unaffected siblings from 80 sibships with Leber hereditary optic neuropathy. Sibships harbored molecularly confirmed mitochondrial DNA mutations at nucleotide positions 11778 (63), 14484 (10), and 3460 (7). Exposure in affected individuals was calculated based on reported consumption before vision loss. RESULTS: For male probands (67 sibships), the recurrence risk within a sibship was 10.3% (eight of 78) for males and 3.1% (three of 98) for females. For female probands (13 sibships), the recurrence risk within a sibship was 17.6% (three of 17) for males and 0% (zero of 22) for females. Greater risk of vision loss was associated with male sex (odds ratio [OR] = 6.63; 95% confidence interval [CI] = 2.96 to 14.84; P =.00001) and harboring a 3460 or 14484 in comparison with the 11778 mutation (OR = 2.071; 95% CI = 1.19 to 3.58; P =.0095). No significant association of maximal intensity of smoking or cumulative smoking, whether light or heavy, with vision loss was observed. Light (OR = 0. 31; 95% CI = 0.17 to 0.56; P =.0001) and heavy alcohol consumers (OR = 0.25; 95% CI = 0.11 to 0.58; P =.0011) were less likely to be affected than individuals who did not consume alcohol after adjusting for age, sex, and mutation. In a categorical analysis of sibships with the 3460 or 14484 mutation, no relationship of vision loss with tobacco or alcohol consumption was observed. CONCLUSION: Unlike previous studies, the present study calculated exposure based on self-reported consumption of tobacco or alcohol before vision loss. No significant deleterious association between tobacco or alcohol consumption and vision loss among individuals harboring Leber hereditary optic neuropathy mutations was observed. Tobacco and alcohol do not appear to promote vision loss in Leber hereditary optic neuropathy.

The ice test versus the rest test in myasthenia gravis.

OBJECTIVE: To compare the ice test with the rest test in subjects with myasthenic and nonmyasthenic ptosis. DESIGN: Randomized, noninterventional trial. PARTICIPANTS: (1) Ten subjects with ptosis from previously undiagnosed myasthenia gravis. (2) Fifteen subjects with nonmyasthenic ptosis. METHODS: Application of ice compared with rest. MAIN OUTCOME MEASURES: Improvement in eyelid elevation in millimeters after the application of a surgical glove filled with ice or cotton. RESULTS: In myasthenic subjects, the median improvement of ptosis with the rest test was 2 mm and with the ice test was 4.5 mm. The difference between the rest and ice tests is significant (P: < 0.001). There was no improvement in ptosis in nonmyasthenic subjects with either test. CONCLUSION: In myasthenic ptosis, improvement in eyelid elevation after the ice test is in part caused by rest. The ice test significantly improves ptosis more than rest alone does.

Low diagnostic yield with second biopsies in suspected giant cell arteritis.

OBJECTIVES: The clinical diagnosis of giant cell arteritis may be confirmed with a biopsy of the superficial temporal artery. Because of "skip lesions," a histologic diagnosis of giant cell arteritis may be missed with a unilateral biopsy. The authors report a study that investigates whether a biopsy of the contralateral superficial temporal artery provides any additional information for confirmation of a diagnosis of giant cell arteritis. METHODS: Available medical records of 91 consecutive patients who underwent bilateral superficial temporal artery biopsy procedures were reviewed. Information that was abstracted included sequence of biopsy procedures, length specimens, and histologic diagnosis. Microslides from all biopsy specimens were retrieved and reexamined in a masked fashion by the ocular pathologist (RCE) who had made the original diagnoses. RESULTS: Seventy-two bilateral simultaneous superficial temporal artery biopsies and 19 bilateral sequential biopsies were performed. The mean length of biopsy specimens was 23 mm, and the mean length of the total artery removed from each patient was 33 mm. The pathologist's original diagnosis and the diagnosis at reexamination were in 100% agreement. In 90 (99%) of the 91 patients, the histologic diagnoses in the left and right superficial temporal arteries were the same. This is a concordance rate of 98.9% (38 of 39 positive biopsy results) among the positive biopsy results. CONCLUSION: There is a low yield of information from a second temporal artery biopsy in patients with suspected giant cell arteritis. This suggests that patients who present to the ophthalmologist with possible giant cell arteritis will, in most cases, have a similar diagnosis on both temporal artery biopsies if the specimens are adequate.

Unilateral eyelid ptosis and a red eye.

A 56-year-old woman presented with a unilateral ptosis induced by a nonembedded soft contact lens of approximately 2 years' duration. The unilateral ptosis most likely resulted form localized inflammation and the physical presence of the soft contact lens. The patient's symptoms resolved completely after double lid eversion and lens removal.