Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24094
Abstract: 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… read more here.
Keywords: hearing loss; cone dystrophy; mutation rrm2b; rod cone ... See more keywords
CNGB1‐related rod‐cone dystrophy: A mutation review and update
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24205
Abstract: Cyclic nucleotide‐gated channel β1 (CNGB1) encodes the 240‐kDa β subunit of the rod photoreceptor cyclic nucleotide‐gated ion channel. Disease‐causing sequence variants in CNGB1 lead to autosomal recessive rod‐cone dystrophy/retinitis pigmentosa (RP). We herein present a… read more here.
Keywords: cngb1; rod; rod cone; cngb1 related ... See more keywords
Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1605393
Abstract: Peripherin 2-associated retinopathies are phenotypically heterogenous and can present as autosomal dominant retinitis pigmentosa, cone-rod dystrophy, various forms of macular and pattern dystrophies, or recessive retinopathy (1,2). We report a case of rod-cone dystrophy associated… read more here.
Keywords: gly167asp; dystrophy; dystrophy associated; rod cone ... See more keywords
Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis.
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2022.2121842
Abstract: PURPOSE To report a case of cone dystrophy, associated with autosomal recessive homozygote POC1B gene variant, mimicking autoimmune retinopathy. CASE A 45-year-old female presented with a complaint of decreased vision in both eyes. Her best… read more here.
Keywords: dystrophy; poc1b gene; diagnosis; cone dystrophy ... See more keywords
Phenotypic and genotypic features of POC1B-associated cone dystrophy.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2204361
Abstract: PURPOSE Patients with cone dystrophy (CD) can present with virtually normal retinal appearance, which may delay diagnosis. This study describes the inconspicuous clinical features of POC1B-associated CD in two Saudi families. METHODS This is a… read more here.
Keywords: phenotypic genotypic; poc1b associated; cone dystrophy; features poc1b ... See more keywords
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2206891
Abstract: BACKGROUND Ectrodactyly is a rare congenital limb malformation characterized by a deep median cleft of the hand and/or foot due to the absence of central rays. It could be isolated or depicts a part of… read more here.
Keywords: dystrophy; whole exome; meibomian glands; cone dystrophy ... See more keywords
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect
Sign Up to like & getrecommendations! Published in 2021 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddab117
Abstract: Abstract Cone dystrophies are a rare subgroup of inherited retinal dystrophies and hallmarked by color vision defects, low or decreasing visual acuity and central vision loss, nystagmus and photophobia. Applying genome-wide linkage analysis and array… read more here.
Keywords: color vision; chromosome 16q12; irxb gene; vision ... See more keywords
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
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DOI: 10.1097/iae.0000000000002636
Abstract: PURPOSE To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations. METHODS Retrospective cohort study of 53 patients (42 families) with biallelic MYO7A mutations who underwent comprehensive examination,… read more here.
Keywords: cohort; rod cone; myo7a mutations; cone dystrophy ... See more keywords
Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Ophthalmology"
DOI: 10.1155/2018/2984934
Abstract: Purpose To present new clinical features, multimodal and ultrawide-field imaging characteristics of peripheral cone dystrophy (PCD), and results of laboratory and genetic investigation to decipher the etiology. Methods Retrospective observational case-series. Results Three patients with… read more here.
Keywords: field; ultrawide field; field imaging; cone dystrophy ... See more keywords
Prescribing patterns of low vision devices in patients with cone-related dystrophies
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_1198_22
Abstract: Purpose: The aim of this study was to elucidate the type of low vision devices (LVDs) prescribed for patients with cone dystrophy, cone–rod dystrophy, and rod–cone dystrophy and to analyze the visual improvement with the… read more here.
Keywords: cone; dystrophy; patients cone; cone dystrophy ... See more keywords