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Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations in LRP5 and TSPAN12.
Tsai, Andrew S H; Chan, R V Paul; Blair, Michael P; Shapiro, Michael J.
Afiliação
  • Tsai ASH; Singapore National Eye Centre, DUKE-NUS Medical School, Singapore.
  • Chan RVP; Department of Ophthalmology & Visual Sciences, University of Illinois at Chicago, Illinois Eye and Ear Infirmary, Chicago, IL, USA.
  • Blair MP; Department of Ophthalmology & Visual Sciences, University of Illinois at Chicago, Illinois Eye and Ear Infirmary, Chicago, IL, USA.
  • Shapiro MJ; Retina Consultants, Ltd, Des Plaines, IL, USA.
J Vitreoretin Dis ; 8(4): 457-461, 2024.
Article em En | MEDLINE | ID: mdl-39148564
ABSTRACT

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/ß-catenin signal activity occurs with the combination of 2 mutations.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Vitreoretin Dis Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Singapura País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Vitreoretin Dis Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Singapura País de publicação: Estados Unidos