Results 141 to 150 of about 29,682 (236)

Evolution of Cellular Inclusions in Bietti’s Crystalline Dystrophy

, 2010
Bietti’s crystalline dystrophy (BCD) consists of small, yellow-white, glistening intraretinal crystals in the posterior pole, tapetoretinal degeneration with atrophy of the retinal pigment epithelium (RPE) and “sclerosis” of the choroid; in addition ...
Emiko Furusato, J. Douglas Cameron, Chi-Chao Chan   +2 more
core  

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy. [PDF]

Am J Hum Genet
Moye AR, McCafferty CL, Lin S, Han JH, Dudakova L, Rodenburg K, Szabó V, Nagy ZZ, Zur D, Vajter M, Kousal B, Moulin AP, Graff-Meyer A, Roosing S, Mahroo OA, Arno G, Webster AR, Ben-Yosef T, Liskova P, Engel BD, Zobor D, Quinodoz M, Rivolta C.   +22 more
europepmc   +1 more source

Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy. [PDF]

Invest Ophthalmol Vis Sci
Zou X, Fang S, Liu Y, Li H, Han X, Sui R.   +5 more
europepmc   +1 more source

Bromelain and Curcumin Oral Supplementation for Refractory Inherited Retinal Dystrophy-Related Macular Oedema: Changes in Macular Thickness and Visual Acuity over 12 Months. [PDF]

Pharmaceuticals (Basel)
D'Andrea M, Dell'Aquila C, Barbano L, Menna F, Renzo AD, Colacino G, Marenco M, Dell'Omo R, Parisi V, Ziccardi L.   +9 more
europepmc   +1 more source

Characterising PRPF31-associated retinal dystrophy: Clinical insights from baseline data in a natural history study. [PDF]

Acta Ophthalmol
Eriksen KO, Eidet JR, Kjellström U, Baldesi J, Bragadóttir R, Colombo L, Holtan JP.   +6 more
europepmc   +1 more source

Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome. [PDF]

J Hum Genet
Nishina S, Torii K, Ishitani S, Yoshida T, Fukami M, Kurosawa K, Kosaki K, Saitsu H, Ishitani T, Hotta Y.   +9 more
europepmc   +1 more source

CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features. [PDF]

Doc Ophthalmol
Alexis JA, Ramakrishnan P, Kenworthy MK, Thompson JA, Chelva ES, Chen FK.   +5 more
europepmc   +1 more source

Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations. [PDF]

Life Sci Alliance, 2023
Usman M, Jüschke C, Song F, Kastrati D, Owczarek-Lipska M, Eilers J, Pauleikhoff L, Lange C, Neidhardt J.   +8 more
europepmc   +1 more source

Gene therapy in hereditary retinal dystrophy. [PDF]

Tzu Chi Med J, 2022
Chien JY, Chien JY, Huang SP.
europepmc   +1 more source

Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids. [PDF]

Mol Ther Nucleic Acids
Leung A, Perdigão PRL, Sacristan-Reviriego A, Sladen PE, Aguzzi EA, Rezek FO, Ziaka K, Guarascio R, Hau KL, Cheetham ME, van der Spuy J.   +10 more
europepmc   +1 more source