Ametropia and Emmetropization in CNGB3 Achromatopsia
نویسندگان
چکیده
منابع مشابه
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia
PURPOSE Congenital achromatopsia (ACHM) is an autosomal recessive disorder in which cone function is absent or severely reduced. Gene therapy in animal models of ACHM have shown restoration of cone function, though translation of these results to humans relies, in part, on the presence of viable cone photoreceptors at the time of treatment. Here, we characterized residual cone structure in subj...
متن کاملFive novel CNGB3 gene mutations in Polish patients with achromatopsia
PURPOSE To identify the genetic basis of achromatopsia (ACHM) in four patients from four unrelated Polish families. METHODS In this study, we investigated probands with a clinical diagnosis of ACHM. Ophthalmologic examinations, including visual acuity testing, color vision testing, and full-field electroretinography (ERG), were performed in all patients (with the exception of patient p4, who ...
متن کاملAchromatopsia caused by novel mutations in both CNGA3 and CNGB3.
C omplete achromatopsia or rod monochromatism is a stationary cone dystrophy, with an incidence of ,1 in 30 000, in which functional cones are absent from the retina. 2 Affected individuals usually present in infancy with nystagmus, poor visual acuity (6/60–6/36), photophobia, and complete colour blindness. Fundal examination is normal, but electroretinography reveals absent photopic (cone) res...
متن کاملONLINE MUTATION REPORT Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
C omplete achromatopsia or rod monochromatism is a stationary cone dystrophy, with an incidence of ,1 in 30 000, in which functional cones are absent from the retina. 2 Affected individuals usually present in infancy with nystagmus, poor visual acuity (6/60–6/36), photophobia, and complete colour blindness. Fundal examination is normal, but electroretinography reveals absent photopic (cone) res...
متن کاملNovel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia
PURPOSE To identify the genetic defect in two Pakistani families with autosomal recessive achromatopsia. METHODS Two families (RP26 and RP44) were originally diagnosed with retinal dystrophy based upon their medical history. To localize the causative genes in these families, homozygosity mapping was performed using Affymetrix 10K single nucleotide polymorphism (SNP) arrays. Sequence analysis ...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2021
ISSN: 1552-5783
DOI: 10.1167/iovs.62.2.10