Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy
Author:
Funder
Japan Society for the Promotion of Science
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10633-024-09971-0.pdf
Reference25 articles.
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2. Rosenberg T, Simonsen SE (1993) Retinal cone dysfunction of supernormal rod ERG type. Five new cases. Acta Ophthalmol (Copenh) 71:246–255
3. Michaelides M, Holder GE, Webster AR, Hunt DM, Bird AC, Fitzke FW et al (2005) A detailed phenotypic study of “cone dystrophy with supernormal rod ERG”. Br J Ophthalmol 89:332–339
4. Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F et al (2020) KCNV2-associated retinopathy: genetics, electrophysiology, and clinical course-KCNV2 Study Group Report 1. Am J Ophthalmol 225:95–107
5. Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME et al (2021) KCNV2-associated retinopathy: detailed retinal phenotype and structural endpoints-KCNV2 Study Group Report 2. Am J Ophthalmol 230:1–11
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