Results 121 to 130 of about 431,670 (160)

Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy. [PDF]

Invest Ophthalmol Vis Sci
Abdalla Elsayed MEA, Mahroo OA, Webster A, Tsang SH, Marques JP, Traboulsi E, Tan TE, Boon CJF, de la Camara CM, Fenner BJ, Barone V, Dollfus H, MacLaren RE.   +12 more
europepmc   +1 more source

An <i>HK1</i> pathogenic variant associated with an atypical retinal dystrophy phenotype: a case report and insights from literature. [PDF]

Int J Ophthalmol
Su YY, Qiu KR, Wen F, Zhou XL.
europepmc   +1 more source

Spectral-Domain Optical Coherence Tomography Morphological Characteristics in Patients with Cone Dysfunction Disorders: A Retrospective Case Series. [PDF]

Clin Ophthalmol
Khojasteh H, Bazvand F, Haidari M, Akhavanrezayat A, Mahmoudi A, Mohammadi SS, Riazi Esfahani H, Mirghorbani M, Sheikholeslami Salmasi A, Azarkish A, Regenold J, Karaca I, Yavari N, Shen M, Uludag Kirimli G, Or C, Ghoraba HH, Nguyen QD, Leung LB.   +18 more
europepmc   +1 more source

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.

JAMA Ophthalmol, 2019
Khateb S, Nassisi M, Bujakowska KM, Méjécase C, Condroyer C, Antonio A, Foussard M, Démontant V, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I.   +11 more
europepmc   +1 more source

The long road to a rare diagnosis: A Malaysian case of childhood-onset progressive myoclonus, ataxia, and retinal dystrophy with biopsy features suggestive of mitochondrial dysfunction. [PDF]

J Int Med Res
Yoga Ratnam KK, Yap JF.
europepmc   +1 more source

Full-Field Stimulus Threshold: A Key Functional Outcome Measure in Retinal Diseases and Clinical Trials. [PDF]

J Clin Med
Macha N, Yu M.
europepmc   +1 more source

Sporadic cone-rod dystrophy caused by a heterozygous RAB28 p.Ser23Phe pathogenic variant and a de novo 4p16.1p15.33 deletion. [PDF]

BMC Med Genomics
Park J, Jang W, Ahn Y, Lee HJ.
europepmc   +1 more source

CRB1-Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow-Up. [PDF]

Clin Exp Ophthalmol
Karuntu JS, Nguyen XT, Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Twisk J, Schalij-Delfos NE, Klaver CCW, Florijn RJ, Ten Brink JB, Smoor MA, van den Born LI, Hoyng CB, Thiadens AAHJ, Boon CJF.   +15 more
europepmc   +1 more source

Progressive Retinal and Neurologic Findings in a Family With Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome. [PDF]

J Vitreoretin Dis
Naveed F, Al-Burak SA, Hashemi E, Ballios BG, Aboobaker S.   +4 more
europepmc   +1 more source

Ability of Large Language Models to Answer Patients' Questions and Generate Educational Materials for Uncommon Retinal Conditions. [PDF]

J Vitreoretin Dis
Cohen SA, Tailor PD, Au A, Vu J, Marin AI, Prasad PS, Kwon J, Hosseini H, Sridhar J.   +8 more
europepmc   +1 more source