Autosomal Dominant Cone-Rod Dystrophy Associated With Mutations in Codon 244 (Asn244His) and Codon 184 (Tyr184Ser) of the Peripherin/RDS Gene

Nakazawa, Makoto; Kikawa, Emi; Chida, Yasushi; Wada, Yuko; Shiono, Takashi; Tamai, Makoto

doi:10.1001/archopht.1996.01100130068011

Cited by 61 publications

(23 citation statements)

References 22 publications

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“…We hypothesized that Rds has distinct functions in rod and cone photoreceptors and the OS structure of each cell is different and varying human mutations in Rds at the same amino acid can cause rod or cone dystrophies. 56,57 We observed that Nrl −/− /Rds −/− mice had photopic ERG function that increased with enlarging light intensities, indicative of a functional OS. 39 Immunohistochemistry using an anti-s-opsin antibody revealed that Nrl −/− /Rds −/− mice develop a dysmorphic and tubular OS that is not aligned with the RPE cells (Fig.…”

Section: Rds Function In Conesmentioning

confidence: 75%

The Role of Rds in Outer Segment Morphogenesis and Human Retinal Disease

Farjo

Naash

2006

Ophthalmic Genetics

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The Retinal Degeneration Slow (Rds) protein is required by photoreceptors for proper formation of the specialized outer segment organelle. Human mutations in Rds cause a multitude of blinding diseases such as retinitis pigmentosa and macular degeneration. In recent years, the use of animal models and biochemical approaches has provided evidence towards the precise function of Rds and its role in the pathogenesis of human disease. This review addresses the current understanding of the role of Rds in photoreceptor outer segment morphogenesis and provides insight into the design of therapeutic strategies to treat Rds-associated retinal diseases.

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Section: Rds Function In Conesmentioning

confidence: 75%

The Role of Rds in Outer Segment Morphogenesis and Human Retinal Disease

Farjo

Naash

2006

Ophthalmic Genetics

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“…The fact that both CRD-like and RP-like phenotypes can be caused by mutations in the same gene is not without precedent. Previously, mutations in the RDS/peripherin gene were associated with a myriad of different phenotypes, including autosomal dominant forms of RP,17 CRD,18 macular dystrophy,19 pattern dystrophies of the retinal pigment epithelium,19-22 and central areolar choroidal dystrophy 23…”

Section: Discussionmentioning

confidence: 99%

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene

Klevering

Driel²,

Pol³

et al. 1999

British Journal of Ophthalmology

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(Br J Ophthalmol 1999;83:914-918) Stargardt's disease (STGD) presents in the first or second decade of life with a bilateral gradual diminution of vision due to progressive atrophy of the macular retinal pigment epithelium and the choriocapillaris in combination with degeneration of the photoreceptors of the posterior pole.1 STGD is caused by mutations in the retina specific ATP binding cassette transporter (ABCR) gene, which also has been shown to be involved in age related macular degeneration (AMD), although the latter finding has been disputed. [2][3][4] We decribe a single consanguineous family with two diVerent phenotypes: cone-rod-like dystrophy (CRD-like) and a retinitis pigmentosa-like dystrophy (RPlike). These phenotypes co-segregated with DNA markers flanking the ABCR gene and subsequent sequence analysis revealed compound heterozygosity (CRD-like) and homozygosity (RP-like) for ABCR mutations. Patients and methods PATIENTSPatients of a consanguineous family with hereditary retinal degeneration originally described by Deutman 5 as centroperipheral tapetoretinal degeneration resembling STGD were reevaluated. All members of the family were examined by one of the authors (CBH). Two diVerent phenotypes could be distinguished based on the clinical findings only. After consulting with the department of human genetics we collected blood samples for molecular genetic analysis, after informed consent was obtained. Patient IV-3 had to be examined at home because of her poor general condition. Unfortunately she died 3 months later. CLINICAL AND ELECTROPHYSIOLOGICAL INVESTIGATIONSAfter the ophthalmic history was taken, all patients underwent a standard ophthalmological evaluation including detailed fundus examination. In addition, fundus photography, fluorescein angiography, and electroretinography (ERG) were performed. In ERG tests, the patients faced a modified sphere of a Goldmann-Weekers adaptometer, lit by two 40 W incandescent lamps in order to furnish a Ganzfeld adaptation. After a scleral contact lens, equipped with measuring electrodes, was inserted, a reference electrode was placed on the forehead and the patient was earthed by means of two earclip electrodes. A xenon flashlight was used for flash responses (flash luminance 6.85 cd/m 2 /s photopic and 0.85 cd/m 2 /s scotopic). Measurements were taken at photopic and adaptation levels. The scotopic ERG was a rod isolated dark adapted scotopic response with white (12 minutes of dark adaptation) and blue stimuli (15 minutes of dark adaption). This ERG technique 6 does not precisely meet the ISCEV standard, but for reasons of comparison over a long period of time (patient V-9, follow up 1969-95) the same method was applied. The lower limit of normality with this technique was 100 µV for the photopic b-wave, 150 µV for the scotopic b-wave with a white stimulus, and 170 µV when a blue stimulus was used. Br J Ophthalmol 1999;83:914-918 914

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“…It is a glycoprotein of 39 kDa (346 amino acids), is highly conserved among mice, cattle, rats and humans and is thought to play an important role in the assembly, orientation and physical stability of the membranous disc of rods and cones. Mutations in the human peripherin/RDS gene have been found (table 3) in families with RP [44,[112][113][114][115][116][117][118][119][120], butterfly shaped pigment dystrophy [121][122][123], retinitis punctata albescens [124], pattern dystrophy [125], macular dystrophy [126][127][128], fundus flavimaculatus [129], bull's eye maculopathy [130], central areolar choroidal dystrophy [131], and cone-rod dystrophy [132,133]. Thus, mutations in the peripherin/RDS gene are associated with radically different phenotypes.…”

Section: Mutation In the Peripherin/rds Genementioning

confidence: 99%

“…A three base pair (bp) delection of codon 153 or 154 can produce clinically disparate phenotypes even within the same family [129]. Patients with Gly-167-Asp and Asn-224-Lys mutations have widely different clinical phenotypes [121,130,132]. In some families, there is a selective loss of central vision whereas loss of peripheral vision occurs in others.…”

Section: Mutation In the Peripherin/rds Genementioning

confidence: 99%

Signal transduction in the retina and inherited retinopathies

Shastry

1997

Cellular and Molecular Life Sciences (CMLS)

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In this paper, an attempt is made to highlight some of the recent developments in genetics to understand the group of inherited eye disorders referred to as retinitis pigmentosa (RP). Of the seven genes identified, six are expressed specifically in the photoreceptor cells and four encode the enzymes involved in the phototransduction pathway. A short discussion is presented of the tremendous phenotypic heterogeneity. An understanding of RP requires knowledge of other genetic and environmental factors as well as tests to measure the status of the patient's photoreceptor cells in various disease stages.

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Autosomal Dominant Cone-Rod Dystrophy Associated With Mutations in Codon 244 (Asn244His) and Codon 184 (Tyr184Ser) of the Peripherin/RDS Gene

Cited by 61 publications

References 22 publications

The Role of Rds in Outer Segment Morphogenesis and Human Retinal Disease

The Role of Rds in Outer Segment Morphogenesis and Human Retinal Disease

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene

Signal transduction in the retina and inherited retinopathies

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