Background: Several studies have suggested racial differences in the prevalence of optic nerve head drusen (ONHD). We aimed to determine the percentage of patients with ONHD who are black, and to describe the clinical, ophthalmoscopic, and perimetry findings in these patients.
Methods: We conducted a retrospective chart review of all patients with ONHD seen at our institution between 1989 and 2010. Only black patients with ONHD confirmed on either funduscopy or B-scan ultrasonography were included. Demographic and clinical findings in these patients were recorded and analyzed.
Results: Of 196 patients with confirmed ONHD, 10 (5.1%) were black (7 women; ages 8–61 years). Six of the 10 patients had bilateral ONHD. The ONHD were buried in 11 of 16 eyes with ONHD, and exposed in 5 of 16 eyes. Fifteen of 16 eyes with ONHD had small cupless optic nerve heads. Visual fields were normal in 4 of 16 eyes with ONHD. In the other eyes, visual field defects included an enlarged blind spot (5 eyes), constricted field (5 eyes), nasal defect (2 eyes), central defect (1 eye), and generalized depression (1 eye). Visual field defects were present in 4 of 5 eyes (80%) with exposed ONHD and 8 of 11 eyes (72.7%) with buried ONHD. None of the patients were related and none of their examined family members had exposed ONHD on funduscopic examination.
Conclusion: ONHD are rare in blacks, possibly due to the presence of a larger cup-to-disc ratio or a lack of predisposing genetic factors. Visual field defects are common in black patients with both exposed and buried ONHD.
Objective:
Transverse sinus stenosis (TSS) is common in idiopathic intracranial hypertension (IIH), but its effect on the course and outcome of IIH is unknown. We evaluated differences in TSS characteristics between patients with IIH with “good” vs “poor” clinical courses.
Methods:
All patients with IIH seen in our institution after September 2009 who underwent a high-quality standardized brain magnetic resonance venogram (MRV) were included. Patients were categorized as having a good or poor clinical course based on medical record review. The location and percent of each TSS were determined for each patient, and were correlated to the clinical outcome.
Results:
We included 51 patients. Forty-six patients had bilateral TSS. The median average percent stenosis was 56%. Seventy-one percent of patients had stenoses >50%. Thirty-five of the 51 patients (69%) had no final visual field loss. Eight patients (16%) had a clinical course classified as poor. There was no difference in the average percent stenosis between those with good clinical courses vs those with poor courses (62% vs 56%, p = 0.44). There was no difference in the percent stenosis based on the visual field grade (p = 0.38). CSF opening pressure was not associated with either location or degree of TSS.
Conclusion:
TSS is common, if not universal, among patients with IIH, and is almost always bilateral. There is no correlation between the degree of TSS and the clinical course, including visual field loss, among patients with IIH, suggesting that clinical features, not the degree of TSS, should be used to determine management in IIH.
Purpose: Autosomal-dominant optic atrophy (DOA) is one of the most common inherited optic neuropathies, and it is genetically heterogeneous, with mutations in both OPA1 and OPA3 known to cause disease. About 60% of cases harbor OPA1 mutations, whereas OPA3 mutations have only been reported in two pedigrees with DOA and premature cataracts. The aim of this study was to determine the yield of OPA1 and OPA3 screening in a cohort of presumed DOA cases referred to a tertiary diagnostic laboratory.
Design: Retrospective case series.
Participants: One hundred and eighty-eight probands with bilateral optic atrophy referred for molecular genetic investigations at a tertiary diagnostic facility: 38 patients with an autosomal-dominant pattern of inheritance and 150 sporadic cases.
Methods: OPA1 and OPA3 genetic testing was initially performed using PCR-based sequencing methods. The presence of large-scale OPA1 and OPA3 genomic rearrangements was further assessed with a targeted comparative genomic hybridization (CGH) microarray platform. The three primary Leber hereditary optic neuropathy (LHON) mutations, m.3460G>A, m.11778G>A, and m.14484T>C, were also screened in all patients.
Main Outcome Measures: The proportion of patients with OPA1 and OPA3 pathogenic mutations. The clinical profile observed in molecularly confirmed DOA cases.
Results: We found 21 different OPA1 mutations in 27 of the 188 (14.4%) probands screened. The mutations included six novel pathogenic variants and the first reported OPA1 initiation codon mutation at c.1A>T. An OPA1 missense mutation, c.239A>G (p.Y80C), was identified in an 11-year-old African-American girl with optic atrophy and peripheral sensori-motor neuropathy in her lower limbs. The OPA1 detection rate was significantly higher among individuals with a positive family history of visual failure (50.0%) compared with sporadic cases (5.3%). The primary LHON screen was negative in our patient cohort, and additional molecular investigations did not reveal any large-scale OPA1 rearrangements or OPA3 genetic defects. The mean baseline visual acuity for our OPA1-positive group was 0.48 logarithm of the minimum angle of resolution (LogMAR) (Mean Snellen equivalent = 20/61, range = 20/20–20/400, 95% confidence interval = 20/52–20/71), and visual deterioration occurred in 54.2% of patients during follow-up.
Conclusions: OPA1 mutations are the most common genetic defects identified in patients with suspected DOA, whereas OPA3 mutations are very rare in isolated optic atrophy cases.
Patients assume a certain risk of vision loss when undergoing ophthalmic surgery, but awaking blind after elective nonocular surgery is a catastrophic event for the patient, the surgeon and the anesthesiologist. Although relatively rare, perioperative visual loss has warranted a substantial number of publications in the medical literature and has become an important medical-legal issue.
Background
Increased body mass index (BMI) has been associated with increased risk of idiopathic intracranial hypertension (IIH), but the relationship of BMI to visual outcomes in IIH is unclear.
Methods
A retrospective chart review of all adult cases of IIH satisfying the modified Dandy criteria seen at our institution between 1989 and 2010 was performed. Demographics, diagnostic evaluations, baseline visit and last follow-up examination data, treatment and visual outcome data were collected in a standardized fashion. Groups were compared and logistic regression was used to evaluate the relationship of BMI to severe visual loss, evaluating for interaction and controlling for potential confounders.
Results
Among 414 consecutive IIH patients, 158 had BMI≥40 (WHO Obese Class III), and 172 had BMI 30–39.9. Patients with BMI≥40 were more likely to have severe papilledema at first neuro-ophthalmology encounter than those with a lower BMI (p=0.02). There was a trend toward more severe visual loss in one or both eyes at last follow up among those patients with BMI≥40 (18 vs. 11%, p=0.067). Logistic regression modelling found that ten unit (kg/m2) increases in BMI increased the odds of severe visual loss by 1.4 times (95%CI: 1.03–1.91, p=0.03), after controlling for sex, race, diagnosed hypertension, and diagnosed sleep apnea.
Conclusion
Our finding of a trend for severe papilledema and visual loss associated with increasing BMI suggests that very obese IIH patients should be closely monitored for progression of visual field loss.