The Computation of Surface Lightness in Simple and Complex Scenes

The present thesis examined how reflectance properties and the complexity of surface mesostructure (small-scale surface relief) influence perceived lightness in centresurround displays. Chapters 2 and 3 evaluated the role of surface relief, gloss, and interreflections on lightness constancy, which was examined across changes in background albedo and illumination level. For surfaces with visible mesostructure (“rocky” surfaces), lightness constancy across changes in background albedo was better for targets embedded in glossy versus matte surfaces. However, this improved lightness constancy for gloss was not observed when illumination varied. Control experiments compared the matte and glossy rocky surrounds to two control displays, which matched either pixel histograms or a phase-scrambled power spectrum. Lightness constancy was improved for rocky glossy displays over the histogram-matched displays, but not compared to phase-scrambled variants of these images with equated power spectrums. The results were similar for surfaces rendered with 1, 2, 3 and 4 interreflections. These results suggest that lightness perception in complex centre-surround displays can be explained by the distribution of contrast across space and scale, independently of explicit information about surface shading or specularity. The results for surfaces without surface relief (“homogeneous” surfaces) differed qualitatively to rocky surfaces, exhibiting abrupt steps in perceived lightness at points at which the targets transitioned from being increments to decrements. Chapter 4 examined whether homogeneous displays evoke more complex mid-level representations similar to conditions of transparency. Matching target lightness in a homogeneous display to that in a textured or rocky display required varying both lightness and transmittance of the test patch on the textured display to obtain the most satisfactory matches. However, transmittance was only varied to match the contrast of targets against homogeneous surrounds, and not to explicitly match the amount of transparency perceived in the displays. The results suggest perceived target-surround edge contrast differs between homogeneous and textured displays. Varying the mid-level property of transparency in textured displays provides a natural means for equating both target lightness and the unique appearance of the edge contrast in homogeneous displays

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Neuro Imaging Researc

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c.721G > C (p.Val241Leu), occurred de novo and is predicted to affect the homeodomain of LMX1A, which is essential for DNA binding. The second variant, c.290G > C (p.Cys97Ser), predicted to affect a zinc-binding residue of the second LIM domain that is involved in protein–protein interactions. Bi-allelic deleterious variants of Lmx1a are associated with a complex phenotype in mice, including deafness and vestibular defects, due to arrest of inner ear development. Although Lmx1a mouse mutants demonstrate neurological, skeletal, pigmentation and reproductive system abnormalities, no syndromic features were present in the participating subjects of either family. LMX1A has previously been suggested as a candidate gene for intellectual disability, but our data do not support this, as affected subjects displayed normal cognition. Large variability was observed in the age of onset (a)symmetry, severity and progression rate of HI. About half of the affected individuals displayed vestibular dysfunction and experienced symptoms thereof. The late-onset progressive phenotype and the absence of cochleovestibular malformations on computed tomography scans indicate that heterozygous defects of LMX1A do not result in severe developmental abnormalities in humans. We propose that a single LMX1A wild-type copy is sufficient for normal development but insufficient for maintenance of cochleovestibular function. Alternatively, minor cochleovestibular developmental abnormalities could eventually lead to the progressive phenotype seen in the families

Etiologisch odnerzoek bij ernstige slechthorendheid en doofheid.

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Velopharyngeal insufficiency: diagnosis and therapy.

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Medische diagnostiek bij het jonge slechthorende of dove kind.

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Diagnostiek van rhinolalia aperta bij schisiskinderen.

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Causes of hearing loss in institutionalized profoundly deaf mentally handicapped.

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