نتائج البحث

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians.

• Authors : Suppiej A; Department of Medical Sciences - Pediatric Section, University of Ferrara, Ferrara, Italy. .; Robert Hollman Foundation, Padua, Italy. .

Subjects: Disease Progression* ; Genetic Predisposition to Disease*; Blindness/Blindness/Blindness/*genetics

• Source: Italian journal of pediatrics [Ital J Pediatr] 2019 Dec 21; Vol. 45 (1), pp. 168. Date of Electronic Publication: 2019 Dec 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288

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Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia.

• Authors : Heath Jeffery RC; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Australia.; Department of Ophthalmology, Royal Perth Hospital, Perth, Australia.

Subjects: Genetic Predisposition to Disease*; Blindness/Blindness/Blindness/*epidemiology ; Genetic Diseases, Inborn/Genetic Diseases, Inborn/Genetic Diseases, Inborn/*epidemiology

• Source: Ophthalmic genetics [Ophthalmic Genet] 2021 Aug; Vol. 42 (4), pp. 431-439. Date of Electronic Publication: 2021 May 03.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Causes of blindness in a pediatric age group at a tertiary healthcare center in the eastern province of Saudi Arabia.

• Authors : Alzamil WM; Ophthalmology Department, King Fahd Hospital of the University, Alkobar, Kingdom of Saudi Arabia. E-mail. .; Alshamlan FT

Subjects: Blindness/Blindness/Blindness/*etiology; Adolescent ; Age Factors

• Source: Saudi medical journal [Saudi Med J] 2019 Oct; Vol. 40 (10), pp. 1063-1066.Publisher: Medical Services Department, Saudi Arabian Armed Forces, Ministry Of Defence And Aviation Country of Publication: Saudi Arabia NLM ID: 7909441

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Stem Cell Ophthalmology Treatment Study II (SCOTS2)

• Source: Bone Marrow Derived Stem Cell Ophthalmology Treatment Study IIWeiss JN, Levy S, Malkin A. Stem Cell Ophthalmology Treatment Study (SCOTS) for retinal and optic

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Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

• Authors : Koenekoop, R.K.; Lopez, I.; Hollander, A.I. den

Subjects: Male; cis-trans-Isomerases; DCN 1: Perception and Action

• Source: Clinical and Experimental Ophthalmology, 35, 5, pp. 473-85

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High frequency of mutations as cause of CRB1 Early-Onset Retinal Dystrophies in the Spanish population.

• Authors : Corton, Marta^1,2; Tatu, Sorina D.¹; Avila-Fernandez, Almudena^1,2

• Source: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-13. 12p. 1 Diagram, 3 Charts.

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Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies.

• Authors : Eisenberger, Tobias¹; Neuhaus, Christine¹; Khan, Arif O.²

• Source: PLoS ONE. Nov2013, Vol. 8 Issue 11, p1-18. 18p.

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Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

• Authors : Pechhacker, Monika K Grudzinska; Jacobson, Samuel G; Drack, Arlene V

Subjects: Rare Diseases; Neurosciences; Eye Disease and Disorders of Vision

• Source: Investigative Ophthalmology & Visual Science. 62(15)

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An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (BRIGHTEN)

• Source: An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects

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Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy

• Source: Genetical, Multi-center, Prospective Study of Phenotyping and Genotyping of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal

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