The X-Linked Recessive Inheritance of Atypical Monochromatism

Spivey, Bruce E.

doi:10.1001/archopht.1965.00970040329007

Cited by 40 publications

(16 citation statements)

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“…Fundus appearance is typically normal 1–5, although exceptions have been reported 9, 10. Blue cone monochromatism (BCM) is an X-linked condition that shares many of the characteristics of autosomal recessive achromatopsia, sometimes exhibited with reduced severity 1–3, 11, 12. Refractive error, however, is typically myopic 8, 11, 13–15.…”

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Rod and Rod-Driven Function in Achromatopsia and Blue Cone Monochromatism

Moskowitz

Hansen

Akula

et al. 2009

Invest. Ophthalmol. Vis. Sci.

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Purpose To evaluate rod photoreceptor and postreceptor retinal function in pediatric patients with achromatopsia (ACHR) and blue cone monochromatism (BCM) using contemporary electroretinographic (ERG) procedures. Methods Fifteen patients (age 1 to 20 years) with ACHR and six patients (age 4 to 22 years) with BCM were studied. ERG responses to full-field stimuli were obtained in scotopic and photopic conditions. Rod photoreceptor (Srod, Rrod) and rod-driven postreceptor (log σ, Vmax) response parameters were calculated from the a-wave and b-wave. The ERG records were digitally filtered to demonstrate the oscillatory potentials (OPs); a sensitivity parameter, log SOPA1/2, and an amplitude parameter, SOPAmax, were used to characterize the OP response. Response parameters were compared to those of 12 normal control subjects. Results As expected, photopic responses were non-detectable in patients with ACHR and BCM. In addition, mean scotopic photoreceptor (Rrod) and postreceptor (Vmax and SOPAmax) amplitude parameters were significantly reduced compared to those in normal controls. The flash intensity required to evoke a half maximum b-wave amplitude (log σ) was significantly increased. Conclusions The results of this study provide evidence that deficits in rod and rod mediated function occur in the primary cone dysfunction syndromes, achromatopsia and blue cone monochromatism.

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“…Blue cone monochromatism (BCM) is an X-linked condition that shares many of the characteristics of autosomal recessive achromatopsia, sometimes exhibited with reduced severity 1–3, 11, 12. Refractive error, however, is typically myopic 8, 11, 13–15. Clinically, the Berson plates discriminate patients with BCM from patients with ACHR 16–18…”

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confidence: 99%

Rod and Rod-Driven Function in Achromatopsia and Blue Cone Monochromatism

Moskowitz

Hansen

Akula

et al. 2009

Invest. Ophthalmol. Vis. Sci.

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“…Congenital achromatopsia is a stationary retinal disease with cone dysfunction. In recent years there have been several attempts to subdivide the disease according to types of inheritance and degree of abnormality of cone dysfunction (Blackwell & Blackwell 1961;Spivey 1965;Francois et al 1984). Such subdivisions are important for a better understanding of the disease and should be of value for molecular genetic analyses of the chromosome defect in the families.…”

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Electroretinograms in patients with achromatopsia

Andréasson

Törnqvist

1991

Acta Ophthalmologica

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Eleven patients with X-linked and 9 patients with autosomal recessive achromatopsia were examined with full-field electroretinograms. In the standard full-field ERG's, normal rod responses were obtained, but the amplitude of the cone b-waves was not detectable. With computer averaging and narrow bandpass filtering, residual cone b-wave responses could be detected in 10 of the 20 patients. The residual cone b-wave amplitudes were markedly different in the 3 families with X-linked achromatopsia. In two of them, residual cone b-wave responses were seen in all patients examined. In contrast, such responses were seen only in 2 of 7 patients in the third family. There were also differences in other clinical observations (mainly in the visual acuity and refractive error) and we therefore suggest that there are at least two forms of X-linked achromatopsia. The ratios of the cone response amplitudes to 30 Hz flickering orange and blue-green light suggested that the defect in the X-linked achromatopsia patients was of the protanope type, whereas in the autosomal patients, both the protanope and the deutanope type was seen. In conclusion, measurements of the residual cone b-wave amplitude responses are of diagnostic and may possibly be of prognostic value when examining children and other members of families with achromatopsia.

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“…It is a disputed question whether extreme deuteranomaly is determined by a separate locus. Kalmus [1965] described a presumably rare mutation, tritanomaly, with deficiency of blue perception, as an X-linked trait, and several reports exist of X-linked incomplete total colour vision (cone monochromatism) [Blackwell and Blackwell, 1961 ;G oodman el al., 1963;Spivey, 1965;F rançois et al, 1966] in which the affected persons can distinguish only between blue and yellow. These latter individuals have a moderately reduced visual acuity; they may or may not suffer from photophobia, and nystagmus is minimal or absent.…”

Section: The Conservative Chromosomementioning

confidence: 99%

The X Chromosome and the Eye

Warburg¹

1974

Hum Hered

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A number of recent genetical experiments and microbiological models are directly applicable to human ophthalmogenetics. This is particularly the case in models and experiments involving X-chromosomal markers because X-chromosomal traits are well studied in the eye. The high prevalence of colour blindness in the Western world relative to primitive people has been explained as a lessening of a selectional pressure through evolution, and the emergence of trichromatic colour vision in primates has evidently been of great selective advantage. These evolutionary new characters can be ascribed to the redundancy of colour vision loci on the X chromosome. Colour-vision abnormalities are sometimes acquired, and some linkage studies are invalidated by deficient differentiation between phenotype and genotype of colour vision. Two reports of monocular deutan colour blindness in males have, so far, remained unexplained. Chimaerism might be an acceptable explanation because mouse chimaeras have been shown to have very dissimilar proportions of the constituent genotypes in the pigment epithelium of the two eyes in each animal. The clonal number of cells at the time of X-inactivation has been calculated in women heterozygous at the G-6-PD locus, in mice, this probably occurs before the differentiation of the mesoderm from the ectoderm. In man, such estimation has not yet been done. It is suggested to use the lens of carriers of G-6-PD variants in such estimations. A theory of the development of the cornea by a centripetal spiral pattern is proposed on the basis of the morphology of affected and heterozygotes for Fabry’s disease. It is also argued that Knudsons’s theory on the origin of heritable retinoblastoma from a mean of three cells can be tried by an estimation of G-6-PD variants in tumour cells from G-6-PD heterozygotes. Compound heterozygotes are at present a much-debated subject, and a list of X-borne loci with multiple alleles, supplementing earlier listing, is provided. X-linked retinitis pigmentosa and X-linked cataract are presented as polyallelic traits. Accepting the current theory of X-inactivation, evidence can be provided that the determination of human photoreceptor cells takes place before the embryo is lateralised because in this way the wide inter- and intrafamilial variation and the irrelevant inter-ocular variation in the manifestation in carriers can be accounted for. From experiments in mice carrying an X-linked marker for albinism, the same early determination has been hypothesised for the melanoblasts in the posterior part of the eye.

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The X-Linked Recessive Inheritance of Atypical Monochromatism

Cited by 40 publications

References 13 publications

Rod and Rod-Driven Function in Achromatopsia and Blue Cone Monochromatism

Rod and Rod-Driven Function in Achromatopsia and Blue Cone Monochromatism

Electroretinograms in patients with achromatopsia

The X Chromosome and the Eye

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