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1.
Proc Natl Acad Sci U S A ; 106(46): 19581-6, 2009 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-19887631

RESUMO

Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.


Assuntos
Defeitos da Visão Cromática/genética , Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/genética , Proteínas do Olho/genética , Mutação de Sentido Incorreto , Animais , Mapeamento Cromossômico , Análise Mutacional de DNA , Humanos , Camundongos , Camundongos Mutantes , Splicing de RNA
2.
Invest Ophthalmol Vis Sci ; 49(2): 751-7, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18235024

RESUMO

PURPOSE: Cone dystrophy with supernormal rod response (CDSRR) is a retinal disorder characterized by reduced visual acuity, color vision defects, and specific alterations of ERG responses that feature elevated scotopic b-wave amplitudes at high luminance intensities. Mutations in PDE6H and in KCNV2 have been described in CDSRR. A combined clinical and genetic study was conducted in a cohort of patients with CDSRR, to substantiate these prior METHODS: Seventeen patients from 13 families underwent a detailed ophthalmic examination including color vision testing, Goldmann visual fields, fundus photography, Ganzfeld and multifocal ERGs, and optical coherence tomography. The coding sequences and flanking intron/UTR sequences of PDE6C and KCNV2 were screened for mutations by means of DHPLC and direct DNA sequencing of PCR-amplified genomic DNA. results. Whereas no mutations were detected in the PDE6H gene, mutations in KCNV2 were identified in all patients, in either the homozygous or compound heterozygous state. Ten of the 11 identified mutations were novel, including three missense and six truncating mutations and one gross deletion. The mutations concordantly segregate in all available families according a recessive mode of inheritance. The CDSRR phenotype was associated with reduced visual acuity of variable degree and color vision defects. Macular defects ranging from mild pigmentary changes to distinct foveal atrophy were present in nine patients. Progression of the disease was observed in only three of seven patients with follow-up data. CONCLUSIONS: The phenotype of cone dystrophy with supernormal rod response is tightly linked with mutations in KCNV2.


Assuntos
Defeitos da Visão Cromática/genética , Mutação , Canais de Potássio de Abertura Dependente da Tensão da Membrana/genética , Células Fotorreceptoras Retinianas Cones/patologia , Degeneração Retiniana/genética , Células Fotorreceptoras Retinianas Bastonetes/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Cromatografia Líquida de Alta Pressão , Testes de Percepção de Cores , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/fisiopatologia , Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/genética , Análise Mutacional de DNA , Eletrorretinografia , Proteínas do Olho/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Degeneração Retiniana/diagnóstico , Degeneração Retiniana/fisiopatologia , Tomografia de Coerência Óptica , Campos Visuais
3.
Vision Res ; 45(28): 3512-9, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16188288

RESUMO

Scanning-laser ophthalmoscopy is a technique for confocal imaging of the eye in vivo. The use of lasers of different wavelengths allows to obtain information about specific tissues and layers due to their reflection and transmission characteristics. In addition, fluorescent dyes excitable in the blue and infrared range offer a unique access to the vascular structures associated with each layer. In animal models, a further enhancement in specificity can be obtained by GFP expression under control of tissue-specific promotors. Important fields of application are studies in retinal degenerations and the follow-up of therapeutic intervention.


Assuntos
Lasers , Microscopia Confocal/métodos , Microscopia de Fluorescência/métodos , Oftalmoscopia/métodos , Retina/patologia , Doenças Retinianas/patologia , Animais , Angiofluoresceinografia , Verde de Indocianina , Camundongos , Microscopia Confocal/instrumentação , Microscopia de Fluorescência/instrumentação , Modelos Animais
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