Sci Rep
Retinitis Pigmentosa Due to Rp1 Biallelic Variants.
Silva RS, Salles MV, Motta FL, Sallum JMF
In the present study, we screened 529 Brazilian individuals affected by inherited retinal disorders. A total of seven unrelated and nonsyndromic patie ...
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Source: PubMed
Orphanet J Rare Dis
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.
Cho A, Lima de Carvalho JR, Tanaka AJ, Jauregui R, Levi SR, Bassuk AG, Mahajan VB, Tsang SH
Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favo ...
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Source: PubMed
Hum. Mol. Genet. 2020 Jan 30
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M
USH2A variants are the most common cause of Usher syndrome type 2, characterised by congenital sensorineural hearing loss and retinitis pigmentosa (RP ...
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Source: PubMed
Neural Regen Res
Beneficial effects of saffron (Crocus sativus L.) in ocular pathologies, particularly neurodegenerative retinal diseases.
Fernández-Albarral JA, de Hoz R, Ramírez AI, López-Cuenca I, Salobrar-García E, Pinazo-Durán MD, Ramírez JM, Salazar JJ
Saffron (Crocus sativus L.) has been traditionally used in food preparation and as a medicinal plant. It currently has numerous therapeutic properties ...
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Source: PubMed
BMC Ophthalmol
Pigmented paravenous retinochoroidal atrophy associated with Vogt-Koyanagi-Harada disease: a case report.
Ramtohul P, Comet A, Gascon P, Denis D
To describe a unique case of pigmented paravenous retinochoroidal atrophy that developed several years after Vogt-Koyanagi-Harada disease. ...
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Source: PubMed
