Biomedical subjects

Matthew P Simunovic

Publications and source records attributed to Matthew P Simunovic.

3 recordsLinked to original sources

PubMed2005

X-linked cone dysfunction syndrome with myopia and protanopia.

PURPOSE: To perform a detailed clinical, psychophysical, and molecular assessment of members of 4 families with an unusual X-linked cone dysfunction syndrome associated with myopia. PARTICIPANTS: Affected and unaffected members of 4 British nonconsanguineous families. METHODS: Subjects underwent both detailed clinical examination and psychophysical testing. After informed consent was obtained, blood samples were taken for DNA extraction, and molecular genetic analysis was performed. The strategy for molecular analysis was to amplify the coding regions of the long and middle wavelength-sensitive cone opsin genes and the upstream locus control region by polymerase chain reaction and to examine these fragments for mutations by sequencing of DNA. RESULTS: The phenotype was almost identical in all 4 families, consisting of moderate to high myopia, astigmatism, moderately reduced acuity, and normal fundi. Electroretinography showed abnormal cone but normal rod responses. Psychophysical testing showed a selective impairment of long cones in combination with well-preserved middle cone and short cone function. There was no evidence to suggest that the phenotype was progressive. Molecular analysis of the X-linked opsin gene array in the 4 families indicated that affected males have inherited the same X-chromosome from their mother. In 2 families, a long/middle hybrid gene was detected. In a third family, the commonly described deleterious Cys203Arg amino acid substitution was identified in both the long and middle opsin genes. In the fourth family, the only abnormality was absence of a middle opsin exon 2; the cause of the protanopia in this family is uncertain. CONCLUSIONS: The X-linked cone dysfunction syndrome associated with myopia and dichromacy described here has many similarities to Bornholm eye disease, a condition previously mapped to Xq28. Except for the Cys203Arg substitution in one family, no alterations in the opsin gene array were identified that could underlie the cone dysfunction. It is therefore possible that the cone dysfunction may have a genetic origin different from that of the dichromacy.

Adolescent↗

PubMed2004

Crowding under scotopic conditions.

Under certain circumstances, a subject's ability to discriminate spatial features of a target may be hampered by neighbouring contours. This phenomenon is popularly known as the "crowding effect", and it has been intensely studied for photopic vision: little attention has been paid to the effect at lower light levels. The underlying basis of the crowding effect has recently provoked some conjecture, with Hess and colleagues claiming that a passive "physical" phenomenon may either wholly [Vis. Res. 40 (2000) 365], or partially [J. Opt. Soc. Am. A--Opt. Image Sci. Vis. 17 (2000) 1516], account for the effect. In order to investigate the crowding effect under scotopic conditions, we conducted scotopic frequency of seeing experiments for Landolt C targets presented both with, and without, flanking bars; the size of the targets was varied so that frequency of seeing curves could be derived for each stimulus condition. Our results suggest that the spatial extent of crowding is significantly less for scotopic vision than for photopic vision at the same eccentricity--furthermore the effect does not seem to scale in proportion to target size. We also compared the resulting empirical curves to those that would be predicted by the hypothesis of Hess and colleagues. Our results do not support the hypothesis that the scotopic crowding effect is caused by a passive physical process.

Dark Adaptation↗

PubMed2004

How well does color perimetry isolate responses from individual cone mechanisms?

PURPOSE: Over the past two decades there has been renewed interest in the use of color perimetry as a means of detecting early functional defects resulting from glaucomatous optic neuropathy and other forms of ophthalmic and neurologic pathology. The most popular form of color perimetry employs a colored background that selectively desensitizes two of the cone mechanisms, while the wavelength of the test target is selected to favor detection by the remaining, relatively unadapted, cone mechanism. While there are data to support the assertion that blue on yellow perimetry adequately isolates the short wavelength sensitive (SWS) cone mechanism, the only estimates of isolation of the other two cone mechanisms are for the region of the visual field corresponding to the fovea. The purpose of this experiment was thus to determine the amount of cone mechanism isolation that is afforded by automated perimetry when using yellow, blue, and magenta adapting backgrounds. METHODS: To estimate cone mechanism isolation, we determined spectral sensitivity for a range of narrow-band stimuli using a standard 30-2 program on a modified Humphrey perimeter. Targets were presented against three different backgrounds of different luminance; yellow at 2.1 log cd.m-2, magenta at 1.3 log cd.m-2, and blue at 1 log cd.m-2. Sensitivity values for each background at each stimulus position were plotted as a function of wavelength, normalized, and then fitted with cone sensitivity templates to determine the relative sensitivity of the three cone mechanisms. RESULTS: The maximum relative isolation of an individual cone mechanism was achieved with a yellow background, where there was an average relative isolation of 0.94 for the SWS cone mechanism; the blue background provided a relative isolation of 0.89 for the long wavelength sensitive (LWS) cone mechanism. The magenta background proved poor at isolating the medium wavelength sensitive (MWS) cone mechanism, where a relative isolation of only 0.51 was obtained. CONCLUSION: Although color perimetry is capable of isolating individual cone mechanisms, the magnitude of isolation in normal observers may be small under certain circumstances. Therefore, when the technique is used to examine pathologic states, it may be necessary to employ at least two target wavelengths to determine the cone mechanism that is performing target detection. Furthermore, we suggest that MWS cone mechanism isolation may be improved through the combination of the so-called silent substitution technique with that of selective adaptation.

Adult↗