A world without color -- researchers find gene mutation that strips color, reduces vision

(University of California - San Diego) People with achromatopsia, an inherited eye disorder, see the world literally in black and white. Worse yet, their extreme sensitivity to light makes them nearly blind in bright sunlight. Now, researchers at University of California, San Diego School of Medicine and Shiley Eye Institute at UC San Diego Health System have identified a previously unknown gene mutation that underlies this disorder.
Source: EurekAlert! - Medicine and Health - Category: Global & Universal Source Type: news

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Abstract Rapid progress in knowledge of the organization of the dog genome has facilitated the identification of the mutations responsible for numerous monogenic diseases, which usually present a breed-specific distribution. The majority of these diseases have clinical and molecular counterparts in humans. The affected dogs have thus become valuable models for preclinical studies of gene therapy for problems such as eye diseases, immunodeficiency, lysosomal storage diseases, hemophilia, and muscular dystrophy. Successful gene therapies in dogs have significantly contributed to decisions to run clinical trials for ...
Source: J Appl Genet - Category: Genetics & Stem Cells Authors: Tags: J Appl Genet Source Type: research
Publication date: Available online 7 March 2020Source: Journal of American Association for Pediatric Ophthalmology and StrabismusAuthor(s): Nashila Hirji, Maria Theodorou, James W. Bainbridge, Nadia Venturi, Michel Michaelides
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - Category: Opthalmology Source Type: research
RARITAN, NJ, March 2, 2020 – The Janssen Pharmaceutical Companies of Johnson &Johnson announced today that the European Medicines Agency (EMA) has granted both PRIME (PRIority MEdicines) and Advanced Therapy Medicinal Product (ATMP) designations to the company’s adeno-associated virus (AAV)-RPGR gene therapy product for the treatment of inherited retinal disease X-linked retinitis pigmentosa (XLRP). PRIME is awarded to increase interactions, optimize development plans and accelerate innovative treatments where there is unmet medical need. Similarly, ATMP status is granted to medicines that are based on gene...
Source: Johnson and Johnson - Category: Pharmaceuticals Tags: Innovation Source Type: news
CONCLUSIONS: These results demonstrate interocular symmetry of the foveal cone mosaic (both density and packing) in ACHM. As cone topography can differ between eyes of a subject, PCD does not completely describe the foveal cone mosaic in ACHM. Nonetheless, these findings are of value in longitudinal monitoring of patients during treatment trials and further suggest that both eyes of a given subject may have similar therapeutic potential and non-study eye can be used as a control. PMID: 32108519 [PubMed - as supplied by publisher]
Source: Current Eye Research - Category: Opthalmology Authors: Tags: Curr Eye Res Source Type: research
Conclusions: The findings, particularly a case with severe macular maldevelopment, may expand on the phenotype previously associated with ATF6-mediated achromatopsia. In addition, the comprehensive electrophysiological assessment suggests that preserved S-cone activity can be detected in this particular molecular sub-type of cone dysfunction. PMID: 31900015 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Conclusions: Patients presenting with PLAHF usually had retinal disorders. PMID: 31889465 [PubMed - as supplied by publisher]
Source: Strabismus - Category: Research Tags: Strabismus Source Type: research
ConclusionsLow vision and nystagmus observed by parents, particularly in the first year of life, may represent a red flag, prompting an appropriate ophthalmological workup for inherited retinal dystrophy.
Source: Italian Journal of Pediatrics - Category: Pediatrics Source Type: research
Condition:   Achromatopsia Intervention:   Diagnostic Test: Ocular assessments Sponsor:   MeiraGTx UK II Ltd Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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