Atypical Achromatopia of Sex-Linked Recessive Inheritance*

François, J.; Verriest, G; Leuven, M. Th. Matton-Van; Rouck, A. De; D, Manavian

doi:10.1016/0002-9394(66)90231-5

Cited by 22 publications

(10 citation statements)

References 9 publications

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“…The observations in the families described by Spivey (1965) and Francois et al (1984) confirm that there seems to be separate types of X-linked achromatopsia, certain of which have a more benign prognosis than the others. We have here shown that also small residual cone functions can be assessed with full-field electroretinograms with a narrow bandpass filter and that differences are recordable in different achromatopsia patients.…”

Section: Discussionsupporting

confidence: 66%

“…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.…”

mentioning

confidence: 99%

“…Spivey (1965) described a particular, large family with achromatopsia in which he found X-linked transmission mode. Later Francois et al (1984) reported a family with atypical achromatopsia of X-linked recessive trait.…”

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confidence: 99%

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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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Section: Discussionsupporting

confidence: 66%

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confidence: 99%

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Electroretinograms in patients with achromatopsia

Andréasson

Törnqvist

1991

Acta Ophthalmologica

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“…These patients also had mildly reduced scotopic electroretinographic responses. Previous reports by Blackwell and Blackwell18 and Francois et al 49 had hinted at the possibility that blue cone monochromacy may progress to resemble rod monochromacy. Interestingly, the pedigree described by Francois et al 49 is the same as the family in the molecular genetic study of the condition by Reyniers et al…”

Section: Blue Cone Monochromatismmentioning

confidence: 99%

The cone dystrophies

Simunovic

Moore

1998

Eye

100

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MonochromatismBy definition, the monochromat requires only one primary in order to match the entire visible spectrum. As we will see, many of those who are labelled as 'monochromats' do display a crude form of residual colour discrimination when tested under specific conditions. This has two unfortunate consequences. The first is that it gives rise to misnomers such as 'incomplete achromatopsia'. The second is that, because there is no recognised standard for assessing such subjects, two independent laboratories using different testing apparatus may differ in the diagnosis of identical conditions. Monochromats may be subdivided according to the type of photoreceptor(s) they retain. The distinction between some forms of monochromatism is unclear, and clarification will have to await the discovery of the underlying genetic mutations. Rod monochromatismRod monochromatism is also known as '!TO monochromacy and 'complete' or 'typical' achromatopsia, and is inherited in an autosomal recessive fashion. Patients with this condition appear to display rod vision only. As a result,

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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…”

mentioning

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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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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Atypical Achromatopia of Sex-Linked Recessive Inheritance*

Cited by 22 publications

References 9 publications

Electroretinograms in patients with achromatopsia

Electroretinograms in patients with achromatopsia

The cone dystrophies

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

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