Search

Purpose: To report the atypical phenotypic characteristics of patients with a novel p.Asp304Gly mutation in BEST1., Methods: Affected individuals underwent a complete ophthalmic examination, including best-corrected visual acuity, fundus autofluorescence, spectral domain optical coherence tomography, and electrophysiologic testing. All individuals were screened for mutations in the BEST1 gene., Results: Five patients of the same Italian family were clinically examined. All patients complained of decreased vision as the initial symptom. Best-corrected visual acuity ranged from 20/800 to 20/32. On fundus examination, all patients showed atypical Best vitelliform macular dystrophy phenotype with multifocal macular and extramacular involvement. The spectral domain optical coherence tomography characteristics of central macular and extramacular lesions varied in each patient and included "giant" choroidal excavation, extensive flat macular elevation with hyporeflective subretinal material accumulation surrounded by hyperautofluorescent spots/annulus, and extensive hypoautofluorescent extramacular atrophic areas. Electrooculogram was always abnormal with Arden ratio lower than 1.55, whereas electroretinogram was normal in the two younger patients and abnormal (low amplitude) in the three older patients. Genetic analysis revealed a novel missense mutation in BEST1, substituting aspartate for glycine at amino acid 304., Conclusion: We describe the atypical phenotype and high intrafamilial variability associated with a new mutation in the BEST1 gene in an Italian family affected with Best vitelliform macular dystrophy. Clinicians should consider screening the BEST1 gene even in the absence of the typical phenotype and in case of high intrafamilial variability.

We report on the short-term test-retest baseline variability in macular function tests in ZEASTRESS-Pilot participants ( n = 18), on their cross-sectional correlation with macular pigment optical density (MPOD), and on the effects of four months (FUV4) of 20 mg/day zeaxanthin (ZX), followed by a four-month washout (FUV8; n = 24, age 50-81 years old). Outcomes included: MPOD at 0.5 and 2.0 deg eccentricity (MPOD-0.5 and -2.0); contrast sensitivity (CS); pattern-reversal electroretinogram (PERG) amplitude; dark-adapted 650 nm foveal cone sensitivity (DA650-FCS); and 500 mn parafoveal rod sensitivity (DA500-PFRS). All measures of macular function showed close test-retest correlation (Pearson's r range: 0.744-0.946) and low coefficients of variation (CV range: 1.13%-4.00%). MPOD correlated in a complex fashion with macular function. Following supplementation, MPOD-0.5 and MPOD-2.0 increased at both FUV4 and FUV8 ( p ≤ 0.0001 for all measures). Continued, delayed MPOD increase and a small, but significant ( p = 0.012), CS increase was seen at FUV8 only in females. PERGs increased significantly at FUV4 ( p = 0.0006), followed by a partial decline at FUV8. In conclusion, following ZX supplementation, MPOD increased significantly. There was no effect on DA-650 FCS or DA-500 PFRS. Both CS and PERG amplitudes increased following supplementation, but the effect varied between males and females. Additional studies appear warranted to confirm and characterize further these inter-gender differences.

Background: the xanthophylls lutein (L) and zeaxanthin (Z) exist in relatively high concentration in multiple central nervous tissues (e.g. cortex and neural retina). L + Z in macula (i.e. macular pigment, MP) are thought to serve multiple functions, including protection and improvement of visual performance. Also, L + Z in the macula are related to L + Z in the cortex., Objective: to determine whether macular pigment optical density (MPOD, L + Z in the macula) is related to cognitive function in older adults., Methods: participants were older adults (n = 108, 77.6 ± 2.7 years) sampled from the age-related maculopathy ancillary study of the Health Aging and Body Composition Study (Memphis, TN, USA). Serum carotenoids were measured using high performance liquid chromatography. MPOD was assessed using heterochromatic flicker photometry. Eight cognitive tests designed to evaluate several cognitive domains including memory and processing speed were administered. Partial correlation coefficients were computed to determine whether cognitive measures were related to serum L + Z and MPOD., Results: MPOD levels were significantly associated with better global cognition, verbal learning and fluency, recall, processing speed and perceptual speed, whereas serum L + Z was significantly related to only verbal fluency., Conclusion: MPOD is related to cognitive function in older people. Its role as a potential biomarker of cognitive function deserves further study.

We report a 77-year-old Caucasian man with a 1-year complaint of unexplained visual loss and a 4-year history of prostate cancer. A complete ophthalmologic exam, Goldmann visual fields (GVFs), intravenous fluorescein angiography (IVFA), macular and disc optical coherence tomography (OCT), pattern-reversal visual evoked potentials (PVEPs), and flash electroretinograms (ERGs) were performed. On examination, visual acuity was reduced bilaterally. Fundus exam showed juxtapapillary changes (OS > OD) and, in OS, disc pallor, peripheral RPE dropout and whitish retinal discoloration along the arcades. OCTs were normal OU. Cancer-associated retinopathy (CAR) was suspected. A flash ERG was normal OD and markedly reduced and electronegative OS. An IVFA showed bilateral juxtapapillary staining and changes highly suggestive of sequelae of central retinal artery occlusion (CRAO) OS , in which a cilioretinal artery existed along the papillomacular bundle. GVFs showed bilateral blind spot enlargement and centrocecal scotomas, and PVEPs were delayed. These findings suggested cancer-associated optic neuropathy (CAON), confirmed by presence of anti-optic nerve autoantibodies (auto-Abs). No anti-retinal auto-Abs were found. CAON is a less common paraneoplastic manifestation than CAR and it is rarely observed in association with prostate cancer. A combination of visual function testing methods permitted the recognition, in this highly unusual case, of the concurrent presence of unilateral ERG changes most likely attributable to CRAO complications in OS, in all likelihood unrelated to CAON, and not to be confused with unilateral CAR. Auto-Ab testing in combination with visual function tests helps achieve a better understanding of the pathophysiology of vision loss in paraneoplastic visual syndromes.