Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations
Author:
Funder
the Japan Society for the Promotion of Science
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10384-020-00766-9.pdf
Reference25 articles.
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2. Duke-Elder S. System of ophthalmology. London: Mosby; 1963. p. 652–657.
3. Harrison R, Hoefnagel D, Hayward JN. Congenital total color blindness: a clincopathological report. Arch Ophthalmol. 1960;64:685–92.
4. Curran RE, Robb RM. Isolated foveal hypoplasia. Arch Ophthalmol. 1976;94:48–50.
5. Oliver MD, Dotan SA, Chemke J, Abraham FA. Isolated foveal hypoplasia. Br J Ophthalmol. 1987;71:926–30.
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1. A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis;BMC Ophthalmology;2023-08-08
2. Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia;Genes;2023-07-21
3. Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement;Investigative Opthalmology & Visual Science;2021-08-20
4. Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report;Documenta Ophthalmologica;2021-05-26
5. Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia;International Journal of Molecular Sciences;2021-01-24
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