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cone dystrophy/sordera
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14 resultados
Progressive cone dystrophy and sensorineural hearing loss.
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A 39-year old man presented 13 years ago with a history of progressive loss of vision and photophobia. A full ophthalmological and ENT work-up during several years of follow-up, including psychophysical as well as electrophysiological tests, revealed a progressive cone dystrophy in combination with
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B
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More than two decades ago, a recessive syndromic phenotype affecting kidneys, eyes and ears, was first described in the endogamous Afrikaner population of South Africa. Using whole exome sequencing of DNA from two affected siblings (and their carrier parents), we identified the novel RRM2B
Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy.
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Most cases of Usher syndrome type II (USH2) are due to mutations in the USH2A gene. There are no effective treatments or ideal animal models for this disease, and the pathological mechanisms of USH2 caused by USH2A mutations are still unknown. Here, we constructed a ush2a knockout (ush2a-/-)
[Cone dystrophy associated with Alport syndrome].
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BACKGROUND
Alport's syndrome is a hereditary disease with renal, cochlear, and ocular involvement. We report a patient with Alport's syndrome who exhibited morphologic macular changes similar to cone dystrophy.
METHODS
A 46-year-old man was evaluated for peculiar macular changes, which have caused a
Novel interaction partners of Bardet-Biedl syndrome proteins.
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Bardet-Biedl syndrome (BBS) is a rare, developmental disorder characterized by six major symptoms: rod-cone dystrophy, obesity, polydactyly, renal abnormalities, learning difficulties, and hypogonadism. Secondary features include cardiac and hepatic anomalies, metabolic disturbancies, and hearing
Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms.
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Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of
Alteration of rod and cone function in children with Usher syndrome.
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OBJECTIVE
To evaluate the retinal function, with emphasis on phenotype and rate of progression, in infants and children with different genotypes of Usher syndrome.
METHODS
Fourteen children (2-10 years of age) with retinitis pigmentosa and hearing impairment were examined with full-field
PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.
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Context Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B″gamma
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.
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Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR-1). TRMA has been reported in less than 80 cases
Atypical and ultra-rare Usher syndrome: a review.
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Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping efforts have led to the identification of several genes associated
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
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OBJECTIVE
To identify the genetic defect of a consanguineous Portuguese family with rod-cone dystrophy and varying degrees of decreased audition.
METHODS
A detailed ophthalmic and auditory examination was performed on a Portuguese patient with severe autosomal recessive rod-cone dystrophy. Known
Ciliopathy: Usher Syndrome.
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Ciliopathies are a group of disorders caused by a defect in ciliogenesis, ciliary protein trafficking. Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems. Usher syndrome is the most common syndromic
Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy.
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USH2A mutation is the most common cause of retinitis pigmentosa, with or without hearing impairment. Patients most commonly exhibit hyperautofluorescent ring on fundus autofluorescence imaging (FAF) and rod-cone dystrophy on electrophysiology. A detailed study of three USH2A patients with a
Ciliopathy: Bardet-Biedl Syndrome.
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Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly,
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