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1.
CLINICAL CASE: A family affected by X-linked blue cone monochromatism is presented. There are 4 male affected individuals and 9 female carriers. DISCUSSION: The diagnosis of blue cone monochromatism is based on severely affected color vision with preserved blue function, poor visual acuity, nystagmus, nearly absent photopic ERG, and a family pedigree compatible with X-linked inheritance. The female carriers showed normal visual function and ocular motility. It is important to be familiar with non progressive cone dysgenesis in order to make a genetic diagnosis of the illnesses in this group.  相似文献   

2.
《Ophthalmic genetics》2013,34(1-2):101-104
Blue cone monochromatism (BCM) is a rare cone dystrophy with recessive X-linked inheritance and therefore diagnosed in males whereas females are clinically unaffected. We present a female with clinically manifested BCM. The diagnosis was genetically verified with the identification of one single red-green OPN1LW/MW hybrid gene harboring a point mutation c.607C>G, p.Cys203Arg that associates with BCM and in addition a completely biased X-inactivation in DNA isolated from full blood and buccal mucosa. The present case illustrates that females may develop symptoms of recessive X-linked eye diseases in rare cases.  相似文献   

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Electroretinograms in carriers of blue cone monochromatism   总被引:2,自引:0,他引:2  
We recorded full-field electroretinograms from seven female obligate carriers of X-linked blue cone monochromatism and eight daughters of obligate carriers. We observed that all obligate carriers had one or more of the following abnormalities: delayed cone b-wave implicit times to 30-Hz white flicker, loss of the a1 oscillation in responses to single flashes of white light under dark-adapted conditions, subnormal b-wave amplitudes to single flashes of white light under dark-adapted conditions, and subnormal cone responses to 30-Hz white flicker. All had normal rod responses to blue light. Three of eight daughters of obligate carriers had abnormal electroretinograms comparable to those recorded from obligate carriers. These obligate carriers have a partial but comparable deficiency of red and green cone function.  相似文献   

5.
Achromatopsie     
Hereditary cone diseases manifest as progressive or stationary disorders. Among the stationary cone disorders autosomal recessive achromatopsia occurs most frequently and begins within the first months of life with nystagmus and photophobia. Color discrimination is not possible, and visual acuity is severely reduced. In addition to a thorough ophthalmic examination, color vision tests and electrophysiology are prerequisites to establish a diagnosis of achromatopsia. A genetic examination is very helpful to distinguish achromatopsia from other stationary cone disorders like X-linked recessive blue cone monochromatism and from progressive cone and cone-rod dystrophies. It is the correct clinical and genetic diagnosis that eventually will allow an individual prognosis, accurate genetic counseling, and the optimal choice of low vision aids.  相似文献   

6.
The diagnosis of blue cone monochromatism (BCM) is based on severely affected color vision with preserved blue function, nearly absent photopic ERG, and a family pedigree compatible with X-linked inheritance. In the past, there has been no familial report of BCM in Japan. We found a Japanese family with BCM and studied the ocular findings of three affected members and a female carrier. Two of three affected members showed unique properties of BCM in their visual functions, including color vision and ERG. One affected member, a brother of their mother (43 years old), showed achromatic color vision. He had diabetic retinopathy and moderate cataract, which, might have disturbed his preserved blue cone function, resulting in the achromatic vision. A female carrier showed normal visual function, except that her photopic ERG was slightly reduced in amplitude.  相似文献   

7.
The cone dystrophies comprise a heterogeneous group of disorders characterised by visual loss, abnormalities of colour vision, central scotomata, and a variable degree of nystagmus and photophobia. They may be stationary or progressive. The stationary cone dystrophies are better described as cone dysfunction syndromes since a dystrophy often describes a progressive process. These different syndromes encompass a wide range of clinical and psychophysical findings. The aim is to review current knowledge relating to the cone dysfunction syndromes, with discussion of the various phenotypes, the currently mapped genes, and genotype-phenotype relations. The cone dysfunction syndromes that will be discussed are complete and incomplete achromatopsia, oligocone trichromacy, cone monochromatism, blue cone monochromatism, and Bornholm eye disease. Disorders with a progressive cone dystrophy phenotype will not be discussed.  相似文献   

8.
Background X-linked blue cone monochromatism (BCM) has to be differentiated from x-linked cone dystrophy and autosomal recessive rod monochromatism.Methods In nine male patients with congenital cone dysfunction (one family, six single cases; age range: 9–55 years), mutations in the red/green opsin gene cluster were confirmed. Clinical findings were analyzed retrospectively.Results In one family and three single cases, a single red-green hybrid gene was found carrying a Cys203Arg mutation. Two patients had multiple opsin genes, a red/green hybrid gene and at least one green pigment gene, all carrying the Cys203Arg mutation. In one patient, a large deletion of the locus control region and parts of the red pigment gene were detected. Two patients (ages: 45 and 55 years) complained about progression. Two patients presented with nystagmus. Refractive errors (+8.0 and –11.0 D) and visual acuity were variable (0.05–0.3). Only four patients had a visual acuity 0.1. In two patients, visual acuity could be improved using blue filter glasses. Four of five patients 25 years had dystrophic alterations in the macula. Severe color vision defects and relative central scotoma were present in all patients. In the electroretinogram, residual cone responses were detected in 2/8 patients.Conclusions Hybrid red/green opsin genes carrying the Cys203Arg mutation are a frequent cause of BCM in German patients. Molecular genetic evaluation is mandatory for adequate diagnosis of patients since from the clinical data only two patients were diagnosed as having BCM. In the other patients, either rod monochromatism or cone-rod dystrophy could not be excluded with certainty. The patients should be cautioned that macular dystrophy may develop in adults older than 30 years.Ulrich Kellner and Bernd Wissinger contributed equally to this work and should be considered joint first authors. Parts of the results were presented at the meeting of the Deutsche Ophthalmologische Gesellschaft 2003.  相似文献   

9.

Background

Cone and cone-rod dystrophies belong to the genetically and phenotypically very heterogeneous group of retinal degenerations. This article aims to review the current knowledge of genes and mutations involved in these rare disorders that primarily affect the cone photoreceptor system.

Methods

Literature and database search and summary of our own molecular genetic analyses in patients affected by achromatopsia, blue cone monochromatism, and cone and cone-rod dystrophy.

Results

Cone and cone-rod dystrophies can be divided according to the disease course into stationary and progressive disorders or by the genetic mode of inheritance into autosomal-recessive, autosomal-dominant, and X-linked traits. To date, seven genes for autosomal-recessive and nine for autosomal-dominant inherited forms of cone and cone-rod dystrophy, as well as two underlying genes on the X chromosome, have been identified. Linkage analyses imply two additional loci for autosomal-dominant, autosomal-recessive, and X-linked forms of these disorders.

Conclusion

Reliable data on the prevalence and incidence of hereditary cone and cone-rod dystrophies and the underlying genetic defects exist only for distinct clinical and genetic entities. Analysis of the known genes results in identification of the genetic defect and mutation in only a subset of patients.  相似文献   

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