Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome
Abstract
:1. Introduction
2. Materials and Methods
2.1. Genetic Analysis
2.2. Clinical Evaluation
3. Results
4. Discussion
Acknowledgments
Author Contributions
Conflicts of Interest
References
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Proband | Gender | Mutation (cDNA) | Mutation (Protein) | Age at Diagnosis (y) | Age at Last Examination (y) | BCVA RE, LE Refr. Error (SE) | Goldmann Perimetry | Ocular Features |
---|---|---|---|---|---|---|---|---|
32666 | M | c.508C>A c.508C>A | p.Arg170Ser p.Arg170Ser | 10 | 29 | 20/125, 20/125 +4.75/+6.50 | Moderately constricted, midperipheral and central sensitivity loss | Divergent strabismus |
32595 | M | c.508C>A c.654del | p.Arg170Ser p.Cys219Valfs*4 | 2 | 13 | 20/40, 20/40 +3.0/+3.0 | Midperipheral and central sensitivity loss | Convergent strabismus, nystagmus |
32594 | M | c.508C>A c.654del | p.Arg170Ser p.Cys219Valfs*4 | 2 | 11 | 20/32, 20/63 +1.5/+3.25 | Moderately constricted, midperipheral and central sensitivity loss | Convergent strabismus, nystagmus |
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Littink, K.W.; Stappers, P.T.Y.; Riemslag, F.C.C.; Talsma, H.E.; Van Genderen, M.M.; Cremers, F.P.M.; Collin, R.W.J.; Van den Born, L.I. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68. https://doi.org/10.3390/genes9020068
Littink KW, Stappers PTY, Riemslag FCC, Talsma HE, Van Genderen MM, Cremers FPM, Collin RWJ, Van den Born LI. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes. 2018; 9(2):68. https://doi.org/10.3390/genes9020068
Chicago/Turabian StyleLittink, Karin W., Patricia T. Y. Stappers, Frans C. C. Riemslag, Herman E. Talsma, Maria M. Van Genderen, Frans P. M. Cremers, Rob W. J. Collin, and L. Ingeborgh Van den Born. 2018. "Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome" Genes 9, no. 2: 68. https://doi.org/10.3390/genes9020068
APA StyleLittink, K. W., Stappers, P. T. Y., Riemslag, F. C. C., Talsma, H. E., Van Genderen, M. M., Cremers, F. P. M., Collin, R. W. J., & Van den Born, L. I. (2018). Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes, 9(2), 68. https://doi.org/10.3390/genes9020068