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2.  Spectral Domain Optical Coherence Tomography and Adaptive Optics: Imaging Photoreceptor Layer Morphology to Interpret Preclinical Phenotypes 
Recent years have seen the emergence of advances in imaging technology that enable in vivo evaluation of the living retina. Two of the more promising techniques, spectral domain optical coherence tomography (SD-OCT) and adaptive optics (AO) fundus imaging provide complementary views of the retinal tissue. SD-OCT devices have high axial resolution, allowing assessment of retinal lamination, while the high lateral resolution of AO allows visualization of individual cells. The potential exists to use one modality to interpret results from the other. As a proof of concept, we examined the retina of a 32 year-old male, previously diagnosed with a red-green color vision defect. Previous AO imaging revealed numerous gaps throughout his cone mosaic, indicating that the structure of a subset of cones had been compromised. Whether the affected cells had completely degenerated or were simply morphologically deviant was not clear. Here an AO fundus camera was used to re-examine the retina (~6 years after initial exam) and SD-OCT to examine retinal lamination. The static nature of the cone mosaic disruption combined with the normal lamination on SD-OCT suggests that the affected cones are likely still present.
PMCID: PMC3444150  PMID: 20238030
3.  Normality of colour vision in a compound heterozygous female carrying a protan and deutan defect 
Inherited red-green colour vision defects are quite common, affecting nearly 1 in 10 males, but are less common in women, affecting about 1 in 250. However because red-green defects are X-linked, nearly 15% of females are heterozygous carriers of red-green colour deficiency. In addition, about 1 in 150 females are “double carriers”, where both of their X chromosomes have L/M gene arrays encoding a red-green defect. If a woman carries the same type of colour vision defect on each X-chromosome, she herself will be red-green colour deficient, whereas if she carries opposing defects (protan vs. deutan) on each X chromosome she will be trichromatic, owing to the process of X-inactivation. These women are referred to as compound heterozygotes, though very few have been reported. Moreover, questions remain as to whether the colour vision capacity of these women is comparable to that of “normal” trichromats.
We examined a compound heterozygote carrier of both protanopia and deuteranomaly. We also examined male members of her family representing both forms of red-green defect carried by the female proband. Complete colour vision testing was done, including Rayleigh matches, pseudoichromatic plates, unique hue measurements, and 100-Hue tests. Flicker-photometric ERG estimates of L:M cone ratio were obtained, as were Medmont C100 settings.
Genetic analyses provided direct confirmation of compound heterozygosity. The compound heterozygote showed Schmidt’s sign, consistent with an extreme skew in her L:M cone ratio, and usually associated with protan carrier status.
Apart from Schmidt’s sign, we found the colour vision of the compound heterozygote to be indistinguishable from that of a normal trichromat.
PMCID: PMC3328350  PMID: 19473349
Color Vision; Retina; Protan; Deutan
4.  Retinal imaging using commercial broadband optical coherence tomography 
To examine the practical improvement in image quality afforded by a broadband light source in a clinical setting and to define image quality metrics for future use in evaluating spectral domain optical coherence tomography (SD-OCT) images.
A commercially available SD-OCT system, configured with a standard source as well as an external broadband light source, was used to acquire 4 mm horizontal line scans of the right eye of 10 normal subjects. Scans were averaged to reduce speckling and multiple retinal layers were analysed in the resulting images.
For all layers there was a significant improvement in the mean local contrast (average improvement by a factor of 1.66) when using the broadband light source. Intersession variability was shown not to be a major contributing factor to the observed improvement in image quality obtained with the broadband light source. We report the first observation of sublamination within the inner plexiform layer visible with SD-OCT.
The practical improvement with the broadband light source was significant, although it remains to be seen what the utility will be for diagnostic pathology. The approach presented here serves as a model for a more quantitative analysis of SD-OCT images, allowing for more meaningful comparisons between subjects, clinics and SD-OCT systems.
PMCID: PMC3326395  PMID: 19770161
5.  Arrested Development: High-Resolution Imaging of Foveal Morphology in Albinism 
Vision research  2010;50(8):810-817.
Albinism, an inherited disorder of melanin biosynthesis, disrupts normal retinal development, with foveal hypoplasia as one of the more commonly associated ocular phenotypes. However the cellular integrity of the fovea in albinism is not well understood – there likely exist important anatomical differences that underlie phenotypic variability within the disease and that also may affect responsiveness to therapeutic intervention. Here, using spectral domain optical coherence tomography (SD-OCT) and adaptive optics (AO) retinal imaging, we obtained high-resolution images of the foveal region in six individuals with albinism. We provide a quantitative analysis of cone density and outer segment elongation demonstrating that foveal cone specialization is variable in albinism. In addition, our data reveal a continuum of foveal pit morphology, roughly aligning with schematics of normal foveal development based on post-mortem analyses. Different albinism subtypes, genetic mutations, and constitutional pigment background likely play a role in determining the degree of foveal maturation.
PMCID: PMC2838989  PMID: 20149815
albinism; cone mosaic; fovea; retinal development; retinal imaging
6.  Topography of the long- to middle-wavelength sensitive cone ratio in the human retina assessed with a wide-field color multifocal electroretinogram 
Visual neuroscience  2008;25(3):301-306.
The topographical distribution of relative sensitivity to red and green lights across the retina was assayed using a custom-made wide-field color multifocal electroretinogram apparatus. There were increases in the relative sensitivity to red compared to green light in the periphery that correlate with observed increases in the relative amount of long (L) compared to middle (M) wavelength sensitive opsin mRNA. These results provide electrophysiological evidence that there is a dramatic increase in the ratio of L to M cones in the far periphery of the human retina. The central to far peripheral homogeneity in cone proportions has implications for understanding the developmental mechanisms that determine the identity of a cone as L or M and for understanding the circuitry for color vision in the peripheral retina.
PMCID: PMC3044242  PMID: 18598401
Cone photopigments; Cone topography; Cone photo pigment gene expression; Multifocal electroretinogram

Results 1-6 (6)