Your browser doesn't support javascript.
loading
Long-term follow-up of a Chinese patient with KCNV2-retinopathy.
Lie, Hongxuan; Wang, Gang; Liu, Xiao; Meng, Xiaohong; Long, Yanling; Ren, Jiayun; Yang, Lizhu; Fujinami-Yokokawa, Yu; Kurihara, Toshihide; Tsubota, Kazuo; Fujinami, Kaoru; Li, Shiying.
Afiliación
  • Lie H; Ophthalmology Department, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing, China.
  • Wang G; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
  • Liu X; Ophthalmology Department, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing, China.
  • Meng X; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
  • Long Y; Ophthalmology Department, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing, China.
  • Ren J; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
  • Yang L; Laboratory of Visual Physiology, Division for Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan.
  • Fujinami-Yokokawa Y; Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
  • Kurihara T; Ophthalmology Department, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing, China.
  • Tsubota K; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
  • Fujinami K; Ophthalmology Department, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing, China.
  • Li S; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
Ophthalmic Genet ; 42(2): 144-149, 2021 04.
Article en En | MEDLINE | ID: mdl-33372566
Purpose: To characterize and monitor the clinical and electrophysiological features of a Chinese patient with KCNV2 retinopathy.Methods: A 17-year-old Chinese male with the diagnosis of cone dystrophy with supernormal rod response (CDSRR) was followed-up for 5 years, with full ophthalmological examinations, including decimal best corrected visual acuity (BCVA), fundus photography, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (SD-OCT), and full-field electroretinogram (ERG). Genetic screening was performed to detect the sequence variations in the retinal dystrophy associated genes in the patient and his parents.Results: The patient demonstrated the characteristic full-field electroretinography (ERG) features of CDSRR, namely a profound enlargement of the dark-adapted ERG b-wave amplitude with increasing flash strength and a broadened a-wave trough; this case also had undetectable light-adapted ERGs. A BCVA of 0.15 was maintained over 5 years in both eyes; while progressive macular atrophy was identified. Molecular genetic analyses revealed two novel disease-causing KCNV2 variants in compound heterozygous state: c.1408 G > C (p.Gly470Arg) and c.1500 C > G (p.Tyr500Ter).Conclusions: This is the first long-term case study of an East Asian patient with molecularly confirmed CDSRR. The progressive atrophy with maintained VA demonstrated in this case will be valuable for increasing the understanding of the natural course of KCNV2 retinopathy and it will help in counselling patients with this disease.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Polimorfismo de Nucleótido Simple / Canales de Potasio con Entrada de Voltaje / Pueblo Asiatico / Distrofias Retinianas Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Polimorfismo de Nucleótido Simple / Canales de Potasio con Entrada de Voltaje / Pueblo Asiatico / Distrofias Retinianas Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido