Retinal Architecture in ​\u3cem\u3eRGS9-\u3c/em\u3e and ​\u3cem\u3eR9AP\u3c/em\u3e-Associated Retinal Dysfunction (Bradyopsia)

Purpose To characterize photoreceptor structure and mosaic integrity in subjects with RGS9- and R9AP-associated retinal dysfunction (bradyopsia) and compare to previous observations in other cone dysfunction disorders such as oligocone trichromacy. Design Observational case series. Methods setting: Moorfields Eye Hospital (United Kingdom) and Medical College Wisconsin (USA). study population: Six eyes of 3 subjects with disease-causing variants in RGS9 or R9AP. main outcome measures: Detailed retinal imaging using spectral-domain optical coherence tomography and confocal adaptive-optics scanning light ophthalmoscopy. Results Cone density at 100 μm from foveal center ranged from 123 132 cones/mm2to 140 013 cones/mm2. Cone density ranged from 30 573 to 34 876 cones/mm2 by 600 μm from center and from 15 987 to 16,253 cones/mm2 by 1400 μm from center, in keeping with data from normal subjects. Adaptive-optics imaging identified a small, focal hyporeflective lesion at the foveal center in both eyes of the subject with RGS9-associated disease, corresponding to a discrete outer retinal defect also observed on spectral-domain optical coherence tomography; however, the photoreceptor mosaic remained intact at all other observed eccentricities. Conclusions Bradyopsia and oligocone trichromacy share common clinical symptoms and cannot be discerned on standard clinical findings alone. Adaptive-optics imaging previously demonstrated a sparse mosaic of normal wave-guiding cones remaining at the fovea, with no visible structure outside the central fovea in oligocone trichromacy. In contrast, the subjects presented in this study with molecularly confirmed bradyopsia had a relatively intact and structurally normal photoreceptor mosaic, allowing the distinction between these disorders based on the cellular phenotype and suggesting different pathomechanisms

The Cone Dysfunction Syndromes

The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision, and varying degrees of colour vision abnormalities, nystagmus and photophobia. This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bradyopsia, and Bornholm eye disease. We describe the clinical, psychophysical, electrophysiological and imaging findings that are characteristic to each condition, in order to aid their accurate diagnosis, as well as highlight some classically held notions about these diseases that have come to be challenged over recent years. The latest data regarding the genetic aetiology and pathological changes observed in the cone dysfunction syndromes are discussed, and, where relevant, translational avenues of research, including completed and anticipated interventional clinical trials, for some of the diseases described herein will be presented. Finally, we briefly review the current management of these disorders

The science of color and color vision

A survey of color science and color vision

Gouldian Arguments & the Sources of Contingency

‘Gouldian arguments’ appeal to the contingency of a scientific domain to establish that domain’s autonomy from some body of theory. For instance, pointing to evolutionary contingency, Stephen Jay Gould suggested that natural selection alone is insufficient to explain life on the macroevolutionary scale. In analysing contingency, philosophers have provided source-independent accounts, understanding how events and processes structure history without attending to the nature of those events and processes. But Gouldian Arguments require source-dependent notions of contingency. An account of contingency is source-dependent when it is indexed to (1) some pattern (i.e, microevolution or macroevolution) and (2) some process (i.e., Natural Selection, species sorting, etc.). Positions like Gould’s do not turn on the mere fact of life’s contingency—that life’s shape could have been different due to its sensitivity to initial conditions, path-dependence or stochasticity. Rather, Gouldian arguments require that the contingency is due to particular kinds of processes: in this case, those which microevolutionary theory cannot account for. This perspective clarifies both debates about the nature and importance of contingency, and empirical routes for testing Gould’s thesis

Multidimensional scaling reveals a color dimension unique to 'color-deficient' observers

Normal color vision depends on the relative rates at which photons are absorbed in three types of retinal cone:short-wave (S), middle-wave (M) and long-wave (L) cones, maximally sensitive near 430, 530 and 560nm, respectively. But 6% of men exhibit an X-linked variant form of color vision called deuteranomaly [1]. Their color vision is thought to depend on S cones and two forms of long-wave cone (L, L′) [2,3]. The two types of L cone contain photopigments that are maximally sensitive near 560nm, but their spectral sensitivities are different enough that the ratio of their activations gives a useful chromatic signal

Digital Color Imaging

This paper surveys current technology and research in the area of digital color imaging. In order to establish the background and lay down terminology, fundamental concepts of color perception and measurement are first presented us-ing vector-space notation and terminology. Present-day color recording and reproduction systems are reviewed along with the common mathematical models used for representing these devices. Algorithms for processing color images for display and communication are surveyed, and a forecast of research trends is attempted. An extensive bibliography is provided

Information gains from commercial spectral filters in anomalous trichromacy

Red-green color discrimination is compromised in anomalous trichromacy, the most common inherited color vision deficiency. This computational analysis tested whether three commercial optical filters with medium-to-long-wavelength stop bands increased information about colored surfaces. The surfaces were sampled from 50 hyperspectral images of outdoor scenes. At best, potential gains in the effective number of surfaces discriminable solely by color reached 9% in protanomaly and 15% in deuteranomaly, much less than with normal trichromacy. Gains were still less with lower scene illumination and more severe color vision deficiency. Stop-band filters may offer little improvement in objective real-world color discrimination.Fundação para a Ciência e a Tecnologia (UIDB/04650/2020); Engineering and Physical Sciences Research Council (GR/R39412/01), EP/B000257/1)

Red-green color vision in three catarrhine primates

The evolution of the red-green visual subsystem in trichromatic primates has been linked to foraging advantages, specifically the detection of either ripe fruits or young leaves amid mature foliage, and to the intraspecific socio-sexual communication, namely the signal of the male rank, the mate choice and the reproductive strategies in females. New data should be added to the debate regarding the evolution of trichromatic color vision. Three catarrhine primates were observed to achieve this goal. The research was performed on captive groups of vervet monkeys (Chlorocebus aethiops), pig-tailed macaques (Macaca nemestrina) and chimpanzees (Pan troglodytes) housed at Parco Natura Viva - Garda Zoological Park (Italy). Using pairs of red-green bags containing the same hidden reward in comparable outdoor enclosures, we recorded the choices by observed individuals (n = 25) to investigate the role of color cues in choosing an object. The results indicate that chimpanzees used red color as cue to choose an object that contains food by showing a preference toward red objects; in contrast, vervet monkeys and pig-tailed macaques do not demonstrate a clear choice based on the color of the object. Our findings highlight the importance of the foraging hypothesis but not rule out the potential role of the intraspecific socio-sexual communication and may serve to add useful information to the debate regarding the adaptive value of the evolution of color vision in order to fill a phylogenetic gap from Old World monkeys to humans. Future studies should address the role of socio-sexual communication, such as the selection of the reproductive partner of both high genetic quality and with compatible genes, to determine how this influenced the evolution of color vision in non-human primates