Publication: Genotype-phenotype spectrum in isolated and syndromic nanophthalmos
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos
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Lang, E., Koller, S., Atac, D., Pfäffli, O. A., Hanson, J. V. M., Feil, S., Bähr, L., Bahr, A., Kottke, R., Joset, P., Fasler, K., Barthelmes, D., Steindl, K., Konrad, D., Wille, D.-A., Berger, W., & Gerth-Kahlert, C. (2021). Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmologica, 99(4), e594–e607. https://doi.org/10.1111/aos.14615
Abstract
Abstract
Abstract
PURPOSE: To (i) describe a series of patients with isolated or syndromic nanophthalmos with the underlying genetic causes, including novel pathogenic variants and their functional characterization and (ii) to study the association of retinal dystrophy in patients with MFRP variants, based on a detailed literature review of genotype-phenotype correlations. METHODS: Patients with nanophthalmos and available family members received a comprehensive ophthalmological examination. Genetic analysis was based on whole-exome sequencing and vari
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Creators (Authors)
- Lang, Elena
- Koller, Samuel
- Atac, David
- Pfäffli, Oliver Andreas
- Hanson, James V M
- Feil, Silke
- Bähr, Luzy
- Kottke, Raimund
- Joset, Pascal
- Fasler, Katrin
- Barthelmes, Daniel
- Konrad, Daniel
- Wille, David-Alexander
- Berger, Wolfgang
- Gerth-Kahlert, Christina
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Lang, E., Koller, S., Atac, D., Pfäffli, O. A., Hanson, J. V. M., Feil, S., Bähr, L., Bahr, A., Kottke, R., Joset, P., Fasler, K., Barthelmes, D., Steindl, K., Konrad, D., Wille, D.-A., Berger, W., & Gerth-Kahlert, C. (2021). Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmologica, 99(4), e594–e607. https://doi.org/10.1111/aos.14615
