X‐linked myopia in danish family

Haim, Marianne; Fledelius, Hans C.; Skarsholm,

doi:10.1111/j.1755-3768.1988.tb04039.x

Cited by 44 publications

(39 citation statements)

References 8 publications

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“…If this were the case, his behavioral phenotype would be expected to be that of a blue cone monochromat. However, he clearly retains M-cone function and phenotypically, his disorder is similar to Bornholm Eye Disease (BED) where a generalised cone dysfunction and protanopia is found alongside myopia (Haim, Fledelius & Skarsholm, 1988, Michaelides et al, 2005, Young et al, 2004). Retinal imaging demonstrates extensive cone depletion, the presence of non-waveguiding cones and an overall thinning of the retina.…”

Section: Discussionmentioning

confidence: 94%

X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene

McClements¹,

Michaelides

Carroll

et al. 2013

Vision Research

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In this report, we describe a male subject who presents with a complex phenotype of myopia associated with cone dysfunction and a protan vision deficiency. Retinal imaging demonstrates extensive cone disruption, including the presence of non-waveguiding cones, an overall thinning of the retina, and an irregular mottled appearance of the hyper reflective band associated with the inner segment ellipsoid portion of the photoreceptor. Mutation screening revealed a novel p.Glu41Lys missense mutation in a hybrid L/M opsin gene. Spectral analysis shows that the mutant opsin fails to form a pigment in vitro and fails to be trafficked to the cell membrane in transfected Neuro2a cells. Extensive sequence and quantitative PCR analysis identifies this mutant gene as the only gene present in the affected subject’s L/M opsin gene array, yet the presence of protanopia indicates that the mutant opsin must retain some activity in vivo. To account for this apparent contradiction, we propose that a limited amount of functional pigment is formed within the normal cellular environment of the intact photoreceptor, and that this requires the presence of chaperone proteins that promote stability and normal folding of the mutant protein.

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Section: Discussionmentioning

confidence: 94%

X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene

McClements¹,

Michaelides

Carroll

et al. 2013

Vision Research

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“…The second suggestion: High myopia and cone dysfunction are parts of the same syndrome. These disorders have been described earlier Haim et al 1988), and the mode of the inheritance has been x-chromosomal recessive. A colour vision defect of protan type ) and deutan type (Haim et al 1988) has been observed with this disorder.…”

Section: Discussionmentioning

confidence: 99%

“…These disorders have been described earlier Haim et al 1988), and the mode of the inheritance has been x-chromosomal recessive. A colour vision defect of protan type ) and deutan type (Haim et al 1988) has been observed with this disorder. The female carrier of the disorder can also show some of the features of the disease: myopia and diminished cone resonse in the ERG examination ) and a unilateral high myopia (Verdoorn &-Pinckers 1988).…”

Section: Discussionmentioning

confidence: 99%

High myopia with cone dysfunction

Mäntyjärvi¹,

Katajakunnas²,

Vänttinen³

1991

Acta Ophthalmologica

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All 3 children, 2 boys and 1 girl (the probands), in a family had high myopia and subnormal visual acuities. The boys had high myopia in both eyes, the girl had high myopia in 1 eye and low myopia in the other eye. Both of the boys had a protanomalous colour vision defect. The colour vision testing of the high myopic eye of the girl was not successful, the other eye had normal colour vision. In the electroretinogram examination, both cone and rod responses were decreased in 2 of the children. In the family study, results of an eye examination of 30 relatives were available. No other cases of high myopia or subnormal visual acuities were found. The father of the children, 1 of the paternal relatives, and 5 of the maternal relatives had low myopia. One maternal male cousin of the probands had a protanomalous colour vision defect. In the genealogical study, no relationship was found between the families of the father and the mother of the probands going back to the fifth generation. The heredity of this disorder is difficult to define. It could be autosomal dominant or recessive if the myopia only are taken into consideration. If the high myopias and cone dysfunction are considered to be parts of the same syndrome, the heredity could be x-chromosomal recessive or autosomal recessive.

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“…The original family mapped to this locus demonstrated syndromic high myopia, characterized by high myopia, cone dysfunction, and color vision deficiency. 80,81 Several additional families with similar phenotypes were identified subsequently. [82][83][84] A large family with nonsyndromic high myopia has been mapped to MYP1.…”

Section: Syndromic High Myopiamentioning

confidence: 97%

Genetics of Refraction and Myopia

Zhang

2015

Progress in Molecular Biology and Translational Science

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X‐linked myopia in danish family

Cited by 44 publications

References 8 publications

X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene

X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene

High myopia with cone dysfunction

Genetics of Refraction and Myopia

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