Optic nerve atrophy in adrenoleukodystrophy detectable by optic coherence tomography.

The adrenoleukodystrophies (ALDs) are a group of metabolic disorders characterised by the accumulation of very long-chain fatty acids in all tissues. The two most frequent ALD phenotypes are adult-onset adrenomyeloneuropathy (AMN) and childhood cerebral ALD. Visual system involvement in the adult phenotype is well described as impairment of visual function and optic disc pallor on clinical examination accompanied by demyelination of the optic nerves seen on MRI. Thinning of the retinal nerve fiber layer and ganglion cell death has been described in a neonatal form of ALD. Our patient provides evidence, through ocular coherence tomography scanning of the retina, that such degenerative changes also underlie the visual dysfunction seen in the AMN phenotype.

Brightness sensitivity and color perception as predictors of relative afferent pupillary defect.

PURPOSE: To characterize the relationship between brightness sensitivity and color perception and relative afferent pupillary defect (RAPD) in patients with optic neuropathy. METHODS: The "swinging flashlight test" was used to diagnose RAPD, the degree of which was quantified by neutral density filters, in 325 consecutive patients in a case-control study. A separate examiner, masked to the pupillary findings, then assessed participants for Ishihara color plate reading, brightness sense, and red perception. The latter two were quantified by asking the patient to score (out of 100%) brightness (of a light source) or redness (of an object) of the two eyes relative to each other. Pearson correlation coefficients and receiver operating characteristic (ROC) curves were calculated. RESULTS: Brightness sense (r = -0.79; 95% confidence interval [CI], -0.84 to -0.73; P < 0.0001), red perception (r = -0.73; 95% CI, -0.79 to -0.65; P < 0.0001), and Ishihara color plate reading (r = -0.68; 95% CI, -0.79 to -0.66; P < 0.0001) were each strongly and highly significantly correlated with the diagnosis and degree of RAPD. Brightness sense and red perception were each able to discriminate almost all the area under ROC for the diagnosis of RAPD (area of 0.99; 95% CI, 0.98-1.00; P < 0.0001; area of 0.93; 95% CI, 0.90-0.96; P < 0.0001, respectively). Sensitivity and specificity of brightness sense in detection of RAPD were 99% (95% CI, 0.97-1.00) and 95% (95% CI, 0.91-0.98), respectively. The red perception test was only slightly less accurate. CONCLUSIONS: Rapid, simple assessments of brightness sense and color perception provide accurate methods to facilitate the diagnosis of optic neuropathy and may prove to be valuable in screening for optic neuropathy or alternatives to the swinging flashlight test.

Regional correlation of structure and function in glaucoma, using the Disc Damage Likelihood Scale, Heidelberg Retina Tomograph, and visual fields.

PURPOSE: To evaluate relationships between the Disc Damage Likelihood Scale (DDLS), global and sectoral structural parameters provided by the Heidelberg Retina Tomograph (HRT), and global and regional functional loss in visual field (VF) testing. DESIGN: Consecutive observational case series. PARTICIPANTS: One hundred ten eyes from 110 patients categorized as glaucoma, glaucoma suspect, or normal. METHODS: Participants were examined clinically to grade the DDLS score and were tested with HRT and Swedish Interactive Threshold Algorithm standard 24-2 VF tests. All tests were performed within 6 months of each other by examiners masked to the other findings. For each patient, the eye with the worse mean deviation (MD) of the VF test was enrolled in the study. Each field was divided into 6 sectors based on a published scheme, and the MD for each sector was calculated. The relationships among clinical DDLS score, HRT parameters, and VF indexes were analyzed by correlation coefficients and linear regression analysis. MAIN OUTCOME MEASURES: The relationship between the DDLS score, global and sectoral optic disc (HRT) parameters, and global and sectoral VF MDs was evaluated. RESULTS: The DDLS showed significant correlation with all global and sectoral VF indexes (r = -0.39 to -0.62, all Ps < 0.0001) and with sectoral rim area HRT measurements (r = -0.27 to -0.51, all Ps < 0.006). The DDLS correlated most strongly with superior and inferior regional data from HRT and VF, and less well with temporal and nasal data. Heidelberg Retina Tomograph rim area and rim volume were the only HRT parameters to correlate moderately with global VF MD (r = 0.30, P = 0.0018, and r = 0.28, P = 0.0030, respectively). Sectoral HRT rim area correlated moderately strongly with the corresponding sectoral VF MDs in the superior and inferior sectors (r = 0.35-0.46, P = <0.0001-0.04). CONCLUSION: Clinical disc assessment and laser tomographic data that determine the state of the neuroretinal rim are associated with sensitivity loss in VF testing in corresponding regions.