Results 131 to 140 of about 431,670 (160)

Sustained improvement in dark-adapted sensitivity but not BCVA after voretigene neparvovec treatment in a mainland Chinese child with biallelic <i>RPE65</i>-associated LCA2: a case report. [PDF]

Front Pharmacol
Ren Y, Liu S, Liu Y, Wang D, Rong J, Li W, Zheng C, Xu L, Li J, Wang Z, Pang J.   +10 more
europepmc   +1 more source

Swept-Source Wide-Field OCT and OCTA (24 × 20 mm and 26 × 21 mm) in Inherited Retinal Dystrophies: First Clinical Experience with Two Novel Devices. [PDF]

J Clin Med
Farmand G, Kellner U.
europepmc   +1 more source

Clinical and Population-Specific Insights Into Inherited Retinal Dystrophies From Whole-Exome Sequencing of the Polish Cohort. [PDF]

Invest Ophthalmol Vis Sci
Ognik K, Cholewinska E, Witkowska E, Solek P, Solowiej B, Jonak K, Pietras-Baczewska A, Gajda-Derylo B, Rejdak R, Nowomiejska K.   +9 more
europepmc   +1 more source

Ocular and Systemic Phenotyping of Bardet-Biedel Syndrome Type 7 (BBS7) in a Palestinian Male: Case Report and Literature Review. [PDF]

Case Rep Ophthalmol Med
Taha I, Abusamra L, Shalabi SF, Huraibat K, Al-Labadi L, Beshtawi KR, Abujaber F, Khalaf M, Obar R.   +8 more
europepmc   +1 more source

Jalili syndrome: Sibling cases with variable phenotypes. [PDF]

Indian J Ophthalmol
Sharda S, Bharti N.
europepmc   +1 more source

The Oxidative-Mitochondrial-Inflammatory Axis in Retinitis Pigmentosa: Extracellular mtDNA as Biomarker and Therapeutic Read-Out. [PDF]

Antioxidants (Basel)
Grimaldi R, Franco F, Vingolo EM.
europepmc   +1 more source

Initial Site of Macular Involvement in Central Retinal Dystrophies Revealed by Fundus Autofluorescence and Optical Coherence Tomography. [PDF]

Invest Ophthalmol Vis Sci
Kawashima H, Mizobuchi K, Hayashi T, Kominami T, Nishiguchi KM, Ueno S, Mawatari G, Ikeda Y, Kondo M, Sekiryu T, Kusuhara S, Nakamura M, Fujinami K, Iwata T, Tsunoda K.   +14 more
europepmc   +1 more source

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations. [PDF]

HGG Adv
Liskova P, Dudakova L, Kaminska K, Kühlewein L, Shliaga S, Leibu R, Ehrenberg M, Zur D, Zernant J, Bauwens M, Arno G, Müller I, Ziemssen F, Bothe V, Cancellieri F, De Zaeytijd J, Mazzola P, Lee W, Kousal B, Vajter M, van den Born LI, Sonntag A, van Leeuwen Y, Smailhodzic D, Klaver CCW, Haack TB, Wissinger B, Webster AR, Haer-Wigman L, Lin S, Menghini M, Platzer K, De Baere E, Allikmets R, Rivolta C, Roosing S, Kohl S, Ben-Yosef T, Quinodoz M.   +38 more
europepmc   +1 more source

Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1.

JAMA Ophthalmol
Stanton CM, Ansari G, Pfau K, Lipsky T, Halachev M, Gerasimavicius L, Drake C, Marsh JA, Hayward C, Sumaroka A, Kousal B, Lišková P, Quinodoz M, Rivolta C, Aleman TS, Cideciyan AV, Pfau M.   +16 more
europepmc   +1 more source