Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis. [PDF]
Am J Med Genet A, 2023 Albakri A +9 more
europepmc +1 more source
In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death [PDF]
, 2017 RPE65 is a retinoid isomerase required for the production of 11-cis-retinal, the chromophore of both cone and rod visual pigments. We recently established an R91W knock-in mouse strain as homologous animal model for patients afflicted by this mutation in
Arsenijevic, Yvan +12 more
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State-of-the-art gene therapy for inherited retinal disorders
Клиническая офтальмологияO.I. Orenburkina1, A.E. Babushkin2 1Russian Center for Eye and Plastic Surgery of the Bashkir State Medical University, Ufa, Russian Federation 2Ufa Research Institute of Eye Diseases of the Bashkir State Medical University, Ufa, Russian ...
O.I. Orenburkina, A.E. Babushkin
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Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. [PDF]
J Appl Genet, 2023 Skorczyk-Werner A +4 more
europepmc +1 more source
Author Correction: Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans. [PDF]
Commun Biol, 2023 Roy M +3 more
europepmc +1 more source
Bilateral exudative retinal detachments after subretinal gene therapy with voretigene neparvovec-rzyl for RPE65 Leber Congenital Amaurosis. [PDF]
Am J Ophthalmol Case Rep, 2023 Lidder AK +6 more
europepmc +1 more source
Psychometric Validation of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis. [PDF]
Ophthalmol Ther, 2023 Fischer MD +13 more
europepmc +1 more source
Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme. [PDF]
JCI Insight, 2023 Faber S +10 more
europepmc +1 more source
Case Report: Severe Expressive Language Disorder of a Child with Laber\'s Congenital Amaurosis
Journal of Rehabilitation, 2001 A 4 years old blind boy with leber's congenital amaurosis was referred for his severe expressive language problems. There was a considerable discrepancy between receptive and expressive language capabilities in favor of receptive ones.
Fariba Yadegari, Seyyed Jalal Sadrosadat
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Molecular Vision, 2019 Purpose: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss.
Naeimeh Tayebi +6 more
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