Retinal Vascular Pattern in Familial Exudative Vitreoretinopathy

Miyakubo, Hiroshi; Hashimoto, Kazuhiko; Sumiko, Miyakubo

doi:10.1016/s0161-6420(84)34119-7

Cited by 85 publications

(43 citation statements)

References 10 publications

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“…FEVR and ND share an abnormal vascularization of the peripheral retina with the formation of retinal folds, retinal detachment, and in many cases the creation of a fibrovascular membrane located behind the lens [Laqua, 1980;Miyakubo et al, 1984;Shukla et al, 2003;van Nouhuys, 1982]. Genetic analyses have thus far identified three causative genes for the two disorders, that is, frizzled 4 (FZD4, located on 11q14.2; MIM] 604579), low-density lipoprotein 5 (LRP5, located on 11q13.2; MIM] 603506), and Norrin (NDP, located on Xp11.3; MIM] 300658).…”

Section: Introductionmentioning

confidence: 99%

“…The pathologic features of the disease initiate from the abnormal retinal development due to the incomplete vascularization of the peripheral retina and/or retinal blood vessel differentiation [Canny and Oliver, 1976]. The resulting avascular peripheral retinal zone [Miyakubo et al, 1982[Miyakubo et al, , 1984Shukla et al, 2003;van Nouhuys, 1982] is the hallmark of the disease and in many mildly affected patients may be FEVR's only manifestation. In more severe cases, retinal complications such as the formation of holes and tears, neovascularization, exudation, vitreous haemorrhage, macular ectopia, falciform folds, and retinal detachment, can result in blindness.…”

Section: Introductionmentioning

confidence: 99%

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Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

et al. 2010

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Wnt signaling is a crucial component of the cell machinery orchestrating a series of physiological processes such as cell survival, proliferation, and migration. Among the plethora of roles that Wnt signaling plays, its canonical branch regulates eye organogenesis and angiogenesis. Mutations in the genes encoding the low density lipoprotein receptor protein 5 (LRP5) and frizzled 4 (FZD4), acting as coreceptors for Wnt ligands, cause familial exudative vitreoretinopathy (FEVR). Moreover, mutations in the gene encoding NDP, a ligand for these Wnt receptors, cause Norrie disease and FEVR. Both FEVR and Norrie disease share similar phenotypic characteristics, including abnormal vascularization of the peripheral retina and formation of fibrovascular masses in the eye that can lead to blindness. In this mutation update, we report 21 novel variants for FZD4, LRP5, and NDP, and discuss the putative functional consequences of missense mutations. In addition, we provide a comprehensive overview of all previously published variants in the aforementioned genes and summarize the phenotypic characteristics in mouse models carrying mutations in the orthologous genes. The increasing molecular understanding of Wnt signaling, related to ocular development and blood supply, offers more tools for accurate disease diagnosis that may be important in the development of therapeutic interventions.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

et al. 2010

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“…Representa uma causa significativa de DR em pacientes com menos de 30 anos (3,4) , sendo um dos diagnósticos diferenciais de DR na infância.…”

Section: Discussionunclassified

“…componente (predominantemente exsudativo/tracional) (4,6) . Apesar disso, sabe-se que há uma grande variabilidade na sua expressão fenotípica, visto que uma parte considerável de pacientes apresenta uma forma moderada da doença, que só pode ser detectada com o auxílio da angiofluoresceinografia.…”

Section: Discussionunclassified

Vitreorretinopatia exsudativa familiar simulando doença de Coats: relato de caso

Lavezzo

Barreira

Zacharias

et al. 2011

Arq. Bras. Oftalmol.

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Editorial Note: After completing the confidential analysis of the manuscript, ABO discloses, with his agreement, the name Dr. João Borges Fortes Filho as a reviewer. We thank his effort and expertise in participating in this process. RESUMOO objetivo é relatar o caso de um paciente de sete anos, nascido a termo, sem intercorrências perinatais, encaminhado ao Setor de Retina/Vítreo para elucidação diagnóstica. Apresentava história de redução da acuidade visual à esquerda, de caráter insidioso/progressivo, há quatro anos. Ao exame, apresentava diminuição do diâ-metro corneano e corectopia do olho direito (OD), sem alterações à biomicroscopia do olho esquerdo (OE). A fundoscopia do OD revelava descolamento de retina (DR) total e, do OE, inicialmente, mostrava alterações vasculares retinianas periféricas e exsudação retiniana, associado à tração vitreorretiniana no setor temporal. As tomografias e ressonâncias de crânio/órbitas não apresentavam anormalidades, com exceção de achados sugestivos de DR antigo no OD, confirmado pela ultrassonografia do globo ocular, que também demonstrou microftalmia. Diante disso, aventou-se a hipótese diagnóstica de vitreorretinopatia exsudativa familiar, doença rara de caráter autossômico dominante e relacionada com casamentos consanguíneos, inicialmente simulando doença de Coats. O paciente foi tratado com fotocoagulação a laser diodo na periferia temporal do OE, com melhora das áreas de tração vitreorretiniana. Descritores

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“…It is not always an autosomal dominant disorder and sporadic cases without family history have been described. 2 Many individuals have asymptomatic abnormal vascular hypermeability, demonstrable only by fluorescein angiography. It is likely that the frequency has been underestimated.…”

Section: Reply To Dtl Liu Et Almentioning

confidence: 99%

Reply to DTL Liu et al

Minamoto

Yokoyama

2005

Eye

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In an observation of 29 eyes in 27 paediatric RRD patients, Fivgas and Capone 2 had shown that myopia was reckoned as the most common aetiology (34%, 10/29 eyes) with nearly half of the myopic patients labelled as having ROP-related detachments. In the present study, authors did not provide any subgroup analysis and it is not certain how many cases were actually in association with ROP, which is not an uncommon retinal disorders in the prematurity paediatric population.Conversely, familial exudative vitreoretinopathy (FEVR) is a comparatively uncommon paediatric retinal disorder.3 A proportion of 13% among other causes for paediatric RRD may be disproportionately high in comparison with other series.2 Retinal detachment associated with FEVR may not necessarily be rhegmatogenous in nature, which has been found to be responsible for only 57.1% of RD cases whereas exudative together with tractional RD accounted for the remaining 42.9%. 3 In lack of further breakdown of the data and ascertainment of the inclusion criteria, we were wondering the possibility of combined RD such as rhegmatogenous and tractional or rhegmatogenous and exudative entities instead of pure RRD being recruited into the study.Authors can certainly enlighten us in these regards. Acknowledgements

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Retinal Vascular Pattern in Familial Exudative Vitreoretinopathy

Cited by 85 publications

References 10 publications

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

Vitreorretinopatia exsudativa familiar simulando doença de Coats: relato de caso

Reply to DTL Liu et al

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