Familial Exudative Vitreoretinopathy

Ebert, Eleanore M.; Mukai, Sonoyo

doi:10.1097/00004397-199303320-00022

Cited by 18 publications

(7 citation statements)

References 23 publications

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“…As shown in Table 2, the expressivity of FZD4 mutations differed widely both among and between families, and one third of the affected individuals were asymptomatic. Although rhegmatogenous retinal detachment is thought to be the most common type of retinal detachment in FEVR, [3][4][5] none of the patients with FZD4 mutations in this study displayed rhegmatogenous retinal detachment. This finding is consistent with the results of the large Canadian family in which the FZD4 mutation was first identified.…”

Section: Discussionmentioning

confidence: 79%

“…1 The disease manifests as various retinal pathologies, such as retinal exudates, retinal neovascularisation, peripheral fibrovascular mass, macular ectopia, retinal fold, retinal detachment, and vitreous haemorrhage, in the first decade of life. [2][3][4] FEVR may also include greater numbers of patients with rhegmatogenous retinal detachment in the second and third decades of life. [3][4][5] The terminal stage of severely affected eyes is characterised by chronic retinal detachment, leading to total blindness.…”

mentioning

confidence: 99%

“…[2][3][4] FEVR may also include greater numbers of patients with rhegmatogenous retinal detachment in the second and third decades of life. [3][4][5] The terminal stage of severely affected eyes is characterised by chronic retinal detachment, leading to total blindness. Although the penetrance of the disease is thought to be nearly 100%, the expressivity differs widely both between and within families.…”

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confidence: 99%

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Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity

Kondo¹

2003

British Journal of Ophthalmology

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Aims: To search for mutations in the frizzled 4 (FZD4) gene in patients with familial exudative vitreoretinopathy (FEVR) and to delineate the defective gene associated clinical features. Methods: Direct sequencing following polymerase chain reaction of exons of FZD4 was performed for 24 probands with FEVR (18 familial and six sporadic), and some of their families. Clinical symptoms among individuals with mutations were assessed. Results: Four novel mutations were identified in four patients with familial and one with sporadic FEVR. Three of these mutations were missense (M105V, R417Q, and G488D) and one was a nonsense change (W319X). M105V, R417Q, and G488D co-segregated with the disease. None of these sequence changes was found among 300 chromosomes from 150 healthy volunteers. The severity of vitreoretinopathy in the individuals involved in this study varied, but no patient with mutations in FZD4 exhibited rhegmatogenous retinal detachment although this pathology is thought to be the most common type of retinal detachment in FEVR. Conclusion: FZD4 gene mutations were found in some cases of autosomal dominant and sporadic FEVR. FZD4 mutations were responsible for FEVR with variable clinical manifestations.

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Section: Discussionmentioning

confidence: 79%

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confidence: 99%

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confidence: 99%

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Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity

Kondo¹

2003

British Journal of Ophthalmology

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“…No todos los autores defienden la profilaxis con fotocoagulación (FCG) o criocoagulación (CCG), a pesar de evidenciar angiográficamente áreas isquémicas en la retina periférica. La indicación principal para el tratamiento profiláctico, según la mayoría de investigadores, es la neovascularización periférica y el desprendimiento de retina exudativo, aunque los resultados no han sido concluyentes (7,8). Un 15,3% de los ojos diagnosticados en el estadio I en nuestra serie, recibieron una sesión de FCG, mientras que el resto recibieron, además, otra sesión de CCG.…”

Section: Discussionunclassified

Vitreorretinopatía exudativa familiar: nuestra experiencia

Piñero¹,

Sempere²,

Nadal³

et al. 2008

Arch Soc Esp Oftalmol

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RESUMENObjetivo: Evidenciar la variabilidad de la presentación inicial de la vitreorretinopatía exudativa familiar (VREF) y la importancia de su diagnóstico y tratamiento precoz. Así como, valorar la respuesta al tratamiento de los diferentes estadios clínicos. Métodos: Realizamos un estudio retrospectivo, intervencional y descriptivo de 11 pacientes (17 ojos) afectos de vitreorretinopatía exudativa familiar tratados en nuestro centro. Resultados: De los pacientes afectos de vitreorretinopatía exudativa familiar, un 33,3% se encontraban en el estadio I, un 16,6% en el estadio II y el 50% restante en estadio III. Los resultados tras el tratamiento fueron los siguientes. En los estadios I y II, la agudeza visual se mantuvo estable (agudeza visual media 0,8 y 0,4 respectivamente). En el estadio III se observó un empeoramiento de la agudeza visual. Conclusiones: El tratamiento en estadios iniciales puede mejorar el pronóstico visual y evitar complicaciones como la exudación subfoveal crónica y la contracción y fibrosis en la interfase retino vítrea periférica que pueden provocar ectopia macular.Palabras clave: Vitreorretinopatía, retina, exudación, distrofia, vitrectomía. ABSTRACTPurpose: To describe our experience in the diagnosis of Familial Exudative Vitreoretinopathy (FEVR) at its different clinical stages. We also report our outcomes in early treatment of this inherited disorder. Methods: Retrospective interventional and descriptive case series of 11 patients (17 eyes) affected by FEVR evaluated and treated in our hospital. Results: In our series, 33.3% of patients were classified as stage I, while 16.7% and 50% were classified as stage II and III, respectively. Visual acuity (VA) remained stable after treatment in stages I and II (mean VA was 0.8 and 0.4, respectively) but decreased in stage III. Conclusions: Early treatment of FERV may improve the visual prognosis and avoid complications such as subfoveal chronic exudation and vitreoretinal peripheral interphase contraction and fibrosis (Arch Soc Esp Oftalmol 2008; 83: 703-708).

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“…Massive Coats-like exudation is rarely seen, but can cause exudative retinal detachments. 4,12 Vitreous hemorrhage is rare but carries a poor prognosis. 4…”

Section: Clinical Featuresmentioning

confidence: 99%