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Academic Journal

Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation.

  • Authors : Bartol-Puyal FA; Ophthalmology department, Miguel Servet University Hospital, Paseo Isabel La Católica, 1-3 50009, Zaragoza, Spain. .; Miguel Servet Ophthalmology Research Group (GIMSO), Aragón Institute for Health Research (IIS Aragón), Zaragoza, Spain. .

Subjects: Visual Acuity*/Visual Acuity*/Visual Acuity*/physiology ; Mutation* ; Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/genetics

  • Source: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2024 Dec; Vol. 149 (3), pp. 165-170. Date of Electronic Publication: 2024 Nov 27.Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622

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Academic Journal

THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.

  • Authors : Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE; and.

Subjects: Color Vision Defects*/Color Vision Defects*/Color Vision Defects*/genetics ; Color Vision Defects*/Color Vision Defects*/Color Vision Defects*/diagnosis ; Color Vision Defects*/Color Vision Defects*/Color Vision Defects*/physiopathology

  • Source: Retina (Philadelphia, Pa.) [Retina] 2024 Nov 01; Vol. 44 (11), pp. 2019-2025.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8309919 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation.

Subjects: Fibrosis*/Fibrosis*/Fibrosis*/genetics ; Orphan Nuclear Receptors*/Orphan Nuclear Receptors*/Orphan Nuclear Receptors*/genetics ; Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/genetics

  • Source: European journal of ophthalmology [Eur J Ophthalmol] 2024 Nov; Vol. 34 (6), pp. 1761-1769. Date of Electronic Publication: 2024 Mar 05.Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9110772 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.

  • Authors : Pincay J; Department of Ophthalmology, Columbia University Irving Medical Center, Vanderbilt Clinic 622 W 168th St 3rd Floor, New York, NY, 10032, USA.; State University of New York at Downstate Medical Center, Brooklyn, NY, USA.

Subjects: Bardet-Biedl Syndrome*/Bardet-Biedl Syndrome*/Bardet-Biedl Syndrome*/genetics ; Bardet-Biedl Syndrome*/Bardet-Biedl Syndrome*/Bardet-Biedl Syndrome*/physiopathology ; Electroretinography*

  • Source: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2024 Oct; Vol. 149 (2), pp. 133-138. Date of Electronic Publication: 2024 Jul 30.Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622

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Academic Journal

Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study.

  • Authors : Fehér T; Institute of Biochemistry, HUN-REN Biological Research Centre, 62 Temesvari krt., Szeged, H6726, Hungary. .; Széll N

Subjects: Myopia*/Myopia*/Myopia*/genetics ; Myopia*/Myopia*/Myopia*/physiopathology ; Electroretinography*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 17; Vol. 19 (1), pp. 385. Date of Electronic Publication: 2024 Oct 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.

  • Authors : Zhang Q; From the Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine (QZ, JS, ZL, HW, HZ, WL, HJ, NL, TL, and XS), Shanghai, China; National Clinical Research Center for Ophthalmic Diseases (QZ, JS, ZL, HW, WL, HJ, NL, TL, and XS), Shanghai, China.

Subjects: Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/genetics ; Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/physiopathology ; Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/diagnosis Retinal Dystrophy, Early Onset Severe

  • Source: American journal of ophthalmology [Am J Ophthalmol] 2024 Oct; Vol. 266, pp. 235-247. Date of Electronic Publication: 2024 Jun 15.Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.

  • Authors : Zhou Y; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.; Huang L

Subjects: Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/genetics ; Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/physiopathology ; Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/Leber Congenital Amaurosis*/diagnosis

  • Source: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2024 Sep; Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 8205248 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient.

  • Authors : Lee YJ; Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.; Joo K

Subjects: Electroretinography* ; Mutation*; DNA/DNA/DNA/*genetics Night blindness, congenital stationary

  • Source: Korean journal of ophthalmology : KJO [Korean J Ophthalmol] 2020 Apr; Vol. 34 (2), pp. 170-172.Publisher: KJO Country of Publication: Korea (South) NLM ID: 8804513 Publication Model: Print Cited Medium: Internet ISSN: 2092-9382 (Electronic)

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Academic Journal

Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

  • Authors : Sengillo JD; Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.; Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, NY, USA.

Subjects: Electroretinography* ; Mutation*; Extracellular Matrix Proteins/Extracellular Matrix Proteins/Extracellular Matrix Proteins/*genetics

  • Source: Scientific reports [Sci Rep] 2017 Sep 11; Vol. 7 (1), pp. 11170. Date of Electronic Publication: 2017 Sep 11.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

[The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].

  • Authors : Preising MN; Klinik und Poliklinik für Augenheilkunde, Justus-Liebig-Universität Gießen.; Schneider U

Subjects: Antigens, Neoplasm*/Antigens, Neoplasm*/Antigens, Neoplasm*/genetics ; Electroretinography* ; Mutation*

  • Source: Klinische Monatsblatter fur Augenheilkunde [Klin Monbl Augenheilkd] 2019 Mar; Vol. 236 (3), pp. 244-252. Date of Electronic Publication: 2019 Mar 21.Publisher: Thieme Country of Publication: Germany NLM ID: 0014133 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-3999

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  • 1-10 of  971 results for ""ELECTRORETINOGRAPHY""