Retinal Nerve Fiber Layer Protrusion Associated with Tilted Optic Discs.

SIGNIFICANCE: This study resulted in the identification of an optic nerve head (ONH) feature associated with tilted optic discs, which might potentially contribute to ONH pathologies. Knowledge of such findings will enhance clinical insights and drive future opportunities to understand disease processes related to tilted optic discs. PURPOSE: The aim of this study was to identify novel retinal nerve fiber layer (RNFL) anomalies by evaluating tilted optic discs using optical coherence tomography. An observed retinal nerve fiber protrusion was further investigated for association with other morphological or functional parameters. METHODS: A retrospective review of 400 randomly selected adult patients with ONH examinations was conducted in a referral-only, diagnostic imaging center. After excluding other ONH pathologies, 215 patients were enrolled and evaluated for optic disc tilt and/or torsion. Gross anatomical ONH features, including size and rim or parapapillary region elevation, were assessed with stereoscopic fundus photography. Optical coherence tomography provided detailed morphological information of individual retinal layers. Statistical analysis was applied to identify significant changes between individual patient cohorts. RESULTS: A dome-shaped hyperreflective RNFL bulge, protruding into the neurosensory retina at the optic disc margins, was identified in 17 eyes with tilted optic discs. Available follow-up data were inconclusive regarding natural changes with this ONH feature. This RNFL herniation was significantly correlated with smaller than average optic disc size (P = .005), congenital disc tilt (P < .0001), and areas of rim or parapapillary elevation (P < .0001). CONCLUSIONS: This study reports an RNFL protrusion associated with tilted optic discs, which has not previously been assessed as an independent ONH structure. The feature is predominantly related to congenital crowded, small optic discs and variable between patients. This study is an important first step to elucidate diagnostic capabilities of tilted disc morphological changes and understanding associated functional deficits.

Peripheral retinal findings in populations with macular disease are similar to healthy eyes.

PURPOSE: Recent evidence suggests several macular diseases are associated with peripheral retinal changes. This study investigated the number, type and management consequences of peripheral retinal findings detected in patients attending a referral only, eye-care clinic, the Centre for Eye Health(CFEH) with macular disease. METHODS: Records of 537 patients attending CFEH for a macular assessment were included in the study. Subjects were classified as having age-related macular degeneration (AMD), epiretinal membrane (ERM), central serous chorioretinopathy (CSCR), inherited macular dystrophy or no macular disease. Data extracted included reason for referral, macular findings, peripheral findings (based on examination by ultra-widefield scanning laser ophthalmoscopy), diagnosis and management. RESULTS: After age-matching, the number of peripheral findings in subjects with AMD, ERM or CSCR was not significant different to normal subjects. The most common finding for all cohorts were non-specific, degenerative changes such as drusen or pigmentation (61-72%) except inherited macular dystrophy subjects who had mostly vascular findings (30%; p < 0.05). Subjects with AMD and ERM with peripheral findings were significantly more likely to be reviewed or referred to an ophthalmologist than discharged back to their community eye care provider compared to subjects without findings. However only 8% of subjects had altered management based specifically on peripheral findings suggesting the macular findings in most subjects dictated their management. For those with a change, it was significant (upgrade to referral to an ophthalmologist). Peripheral findings also flagged 5% of subjects with vascular findings for referral to their general practitioner (GP). CONCLUSIONS: Overall, the percentage and distribution of peripheral retinal findings in some macular diseases was similar to normal subjects. However, subjects with peripheral findings appeared to have significant differences in management. Considering some common findings, such as peripheral drusen may be relevant to AMD pathogenesis and therefore affect management of this disease, assessment of the peripheral retina should not be overlooked when the clinical focus is on the posterior pole.

The impact of prophylactic salpingo-oophorectomy on quality of life and psychological distress in women with a BRCA mutation.

OBJECTIVES: The objective of this study was to measure the impact of prophylactic salpingo-oophorectomy on health-related quality of life and psychological distress in women. METHODS: Women who underwent prophylactic salpingo-oophorectomy between August 20, 2003 and June 26, 2008 because of a BRCA1 or BRCA2 mutation were invited to participate. Participants completed three questionnaires (SF-12(®) Health Survey, Brief Symptom Inventory and the Impact of Events Scale) before prophylactic surgery and again 1 year after surgery. Measures of health-related quality of life, of general psychological distress and of ovarian cancer worry before and after surgery were compared. RESULTS: Few women who underwent salpingo-oophorectomy experienced a worsening in physical or mental health functioning after salpingo-oophorectomy. On average, women experienced less ovarian cancer-specific worry after surgery; 34.3% experienced moderate to severe ovarian cancer-specific distress before surgery, compared with 18.6% after surgery. CONCLUSIONS: For most women, physical and mental health-related quality of life did not deteriorate after prophylactic salpingo-oophorectomy, and they were less worried about ovarian cancer. A subset of women continued to experience moderate to severe cancer-specific distress. Identification of these women is important in order to provide continued counseling and support.

EEG alpha rhythms and transient chromatic and achromatic pattern visual evoked potentials in children and adults.

Transient chromatic pattern visual evoked potentials (VEPs) have been found to be less repeatable in morphology in children than in adults at low to moderate chromatic contrasts. The purpose of this study is to investigate whether low repeatability of VEP components can be associated with high alpha power, in a comparison of alpha activity in children and adults. Transient chromatic contrast and achromatic resolution VEPs were recorded in children (n = 14, mean 9.6 years) and adults (n = 12, mean 21.8 years) with normal vision and assessed for repeatability. Isoluminant chromatic (magenta-cyan) and luminance-modulated achromatic grating stimuli were presented at and above psychophysical threshold levels, in pattern onset-offset at 2 Hz temporal frequency. EEGs (eyes closed and open) were recorded as single sweeps (1 s long) over three 30 s periods while facing a uniform computer display. An index of VEP detectability by observation was developed based on VEP component repeatability. The index was examined for correlations with alpha-wave parameters. Alpha power was calculated as the sum of the powers of 8-13 Hz frequencies of the EEG sweeps (using the discrete Fourier transform). Alpha power variability was calculated using the standard deviation of the powers of each sweep in a 30 s time period. The children had significantly higher alpha powers than the adults for both the eyes-open and eyes-closed conditions. Alpha power variability was significantly higher for the eyes-open condition only. There was no relationship between alpha power parameters and index of VEP detectability by observation for both the chromatic and achromatic grating stimuli. Poor repeatability of transient pattern VEPs is not associated with high alpha power or its variability in EEG measurements in older children or young adults at Oz.

The usefulness of multimodal imaging for differentiating pseudopapilloedema and true swelling of the optic nerve head: a review and case series.

Ophthalmic practitioners have to make a critical differential diagnosis in cases of an elevated optic nerve head. They have to discriminate between pseudopapilloedema (benign elevation of the optic nerve head) and true swelling of the optic nerve head. This decision has significant implications for appropriate patient management. Assessment of the optic disc prior to the advanced imaging techniques that are available today (particularly spectral domain optical coherence tomography and fundus autofluorescence), has mainly used diagnostic tools, such as funduscopy and retinal photography. As these traditional methods rely on the subjective assessment by the clinician, evaluation of the elevated optic nerve head to differentiate pseudopapilloedema from true swelling of the optic nerve head can be a challenge in clinical practice with patients typically referred for further neuroimaging investigation when the diagnosis is uncertain. The use of multimodal ocular imaging tools such as spectral domain optical coherence tomography, short wavelength fundus autofluorescence and ultrasonography, can potentially aid in the differentiation of pseudopapilloedema from true swelling of the optic nerve head, in conjunction with other clinical findings. By doing so, unnecessary patient costs and anxiety in the case of pseudopapilloedema can be reduced, and appropriate urgent referral and management in the case of true swelling of the optic nerve head can be initiated.