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Strabismus in an Adolescent With Stargardt Disease: An Atypical Presentation.
Cureus
September 2024
Department of Ophthalmology, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI.
We report on the case of a 19-year-old male with Stargardt disease (STGD1) who presented with a five-year history of progressive vision loss, accompanied by the recent onset of alternating exotropia. This patient initially sought care due to difficulties with near vision and tended to focus on distant objects when looking to the right. He was found to have a best-corrected visual acuity of 20/200 in both eyes.
View Article and Find Full Text PDFNationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.
JAMA Ophthalmol
July 2024
Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Article Synopsis
- The study aimed to gather nationwide data on the prevalence of 67 inherited retinal diseases (IRDs) in the Israeli population, as existing prevalence information is limited and can vary significantly.
- Researchers collected data from 9,396 individuals diagnosed with IRDs through 10 clinical centers in Israel during May 2023, using specific diagnostic methods to ensure accuracy.
- Results revealed that the most common IRD was retinitis pigmentosa (approx. 1 in 2,400), followed by other conditions like cone-rod dystrophy and Stargardt disease, with an overall prevalence of IRDs at about 1 in 1,043 individuals.
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Cureus
February 2024
Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, TUR.
Background Inherited retinal diseases (IRD) represent a prominent etiology of visual impairment on a global scale. The lack of a clear definition of the etiology and genotypic spectrum of IRD is attributed to the significant genetic variability seen. Additionally, there is a scarcity of available data about the correlations between genotypes and phenotypes in this context.
View Article and Find Full Text PDFPhenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Prog Retin Eye Res
May 2024
Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom. Electronic address:
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and in children. The scope of this review is to familiarise clinicians and scientists with the current landscape of molecular genetics, clinical phenotype, retinal imaging and therapeutic prospects/completed trials in IRD. Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2-associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)), (ii) cone and cone-rod dystrophies (GUCA1A, PRPH2, ABCA4, KCNV2 and RPGR), (iii) predominant rod or rod-cone dystrophies (retinitis pigmentosa, enhanced S-Cone syndrome (NR2E3), Bietti crystalline corneoretinal dystrophy (CYP4V2)), (iv) Leber congenital amaurosis/early-onset severe retinal dystrophy (GUCY2D, CEP290, CRB1, RDH12, RPE65, TULP1, AIPL1 and NMNAT1), (v) cone dysfunction syndromes (achromatopsia (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6), X-linked cone dysfunction with myopia and dichromacy (Bornholm Eye disease; OPN1LW/OPN1MW array), oligocone trichromacy, and blue-cone monochromatism (OPN1LW/OPN1MW array)).
View Article and Find Full Text PDFOptical coherence tomography in children with inherited retinal disease.
Clin Exp Optom
April 2024
Centre for Eye Research Australia, The Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
Recent advances have led to therapeutic options becoming available for people with inherited retinal disease. In particular, gene therapy has been shown to hold great promise for slowing vision loss from inherited retinal disease. Recent studies suggest that gene therapy is likely to be most effective when implemented early in the disease process, making consideration of paediatric populations important.
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