Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations in LRP5 and TSPAN12 .
| Autor: | Tsai ASH; Singapore National Eye Centre, DUKE-NUS Medical School, Singapore.; Department of Ophthalmology & Visual Sciences, University of Illinois at Chicago, Illinois Eye and Ear Infirmary, Chicago, IL, USA., Chan RVP; Department of Ophthalmology & Visual Sciences, University of Illinois at Chicago, Illinois Eye and Ear Infirmary, Chicago, IL, USA., Blair MP; Retina Consultants, Ltd, Des Plaines, IL, USA., Shapiro MJ; Retina Consultants, Ltd, Des Plaines, IL, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of vitreoretinal diseases [J Vitreoretin Dis] 2024 Apr 15; Vol. 8 (4), pp. 457-461. Date of Electronic Publication: 2024 Apr 15 (Print Publication: 2024). |
| DOI: | 10.1177/24741264241246864 |
| Abstrakt: | Purpose: To describe a patient with familial exudative vitreoretinopathy (FEVR) and the treatment course. Methods: A case was evaluated. Results: A 3-year-old boy presented with severe onset of FEVR, with a subhyaloid hemorrhage in 1 eye and tractional retinal detachment (TRD) in the fellow eye. Aggressive treatment with retinal photocoagulation and repeated injections of intravitreal bevacizumab resulted in stability of the retinal disease. Lens-sparing vitrectomy was performed for the TRD. The treatment effect was durable, and the patient retained useful vision in the better eye at 19 years of age. A subsequent genetic analysis showed 2 novel heterozygous missense mutations in LRP5 and TSPAN12 . Conclusions: The presence of 2 novel mutations associated with severe FEVR identified in our patient is in agreement with in vitro studies showing that a more severe reduction in Norrin/β-catenin signal activity occurs with the combination of 2 mutations. Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. (© The Author(s) 2024.) |
| Databáze: | MEDLINE |
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