Signs, Complications, and Platelet Aggregation in Familial Exudative Vitreoretinopathy

doi:10.1016/S0002-9394(14)76893-X

American Journal of Ophthalmology

Volume 111, Issue 1, January 1991, Pages 34-41

https://doi.org/10.1016/S0002-9394(14)76893-X Get rights and content

Between 1979 and 1989, I examined 106 patients (16 pedigrees) with signs of familial exudative vitreoretinopathy. Of these patients, 101 had familial exudative vitreoretinopathy, and five had a sporadic manifestation. The complications of familial exudative vitreoretinopathy, deformation of the posterior retina, vitreous hemorrhage, amblyopia, and retinal detachment, caused diminished visual acuity. Of 170 eyes, retinal neovascularization was observed in 18 eyes (11%), and retinal exudates were observed in 16 eyes (9%). Several forms of retinal detachment occurred in 37 of 180 eyes (21%), which often took an unfavorable course. A falciform retinal fold was observed in 14 eyes (8%). Retinal surgery was performed in 14 eyes; reattachment of the retina was successful in only seven eyes. Platelet aggregation studies disclosed no significant differences between seven patients with familial exudative vitreoretinopathy and ten control subjects. The pathogenesis of the disease is based on a premature arrest of the vascular development of the retina.

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Cited by (80)

Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
2022, American Journal of Ophthalmology
Citation Excerpt :
Besides, FEVR appears to progress in an unpredictable manner rather than following clinical staging.12,47 Moreover, only approximately half of them may improve visual acuity after surgery if the patients progress to stage 3 or worse.40,48 It can have a disastrous consequence if the patients with early stage FEVR are ignored or give up aggressive follow-up.
To characterize ocular phenotypes in patients with CTNNB1, KIF11, or NDP variants.
Retrospective case series.
Seventy-four patients from 59 unrelated families with CTNNB1, KIF11, and NDP variants were enrolled based on exome sequencing. The clinical data of ophthalmoscope, fundus photography, fluorescein angiography, and ocular ultrasound scan were evaluated.
A total of 55 potential pathogenic variants were identified, including 26 in KIF11 (28 families), 23 in NDP (25 families), and 6 in CTNNB1 (6 families). In total, 74 patients from the 59 families carried the variants, in whom clinical data were available from 70 patients for the current analysis. Severe familial exudative vitreoretinopathy (FEVR), stages 4 and 5, was present in 72.9% (51/70) of patients. In addition, panretinal or sector chorioretinal degeneration along with FEVR is a specific feature associated with KIF11 variants, present in 93.8% (30/32) of patients. FEVR-like change was observed in almost all patients with rare hemizygous variants in NDP, patients with heterozygous truncation variants in CTNNB1, as well as patients with heterozygous truncation or damaging missense variants in KIF11.
Severe FEVR-like change with or without significant chorioretinopathy is a common feature in addition to neurodevelopmental disorders for variants in CTNNB1, KIF11, and NDP. In our cohort, the frequency of families with variants in KIF11 was comparable to that in TSPAN12, so as for NDP. Recognizing the characteristics of variants in the 3 genes and associated ocular phenotypes may enrich our understanding and potential management of this disease.
A novel splice-site mutation in the LRP5 gene causing Familial Exudative Vitreoretinopathy
2020, Gene Reports
Citation Excerpt :
In FEVR the retinal blood vessel development is interrupted, in this condition premature arrest of retinal angiogenesis happens which in turn leads to incomplete vascularization of peripheral retina and finally poor vascular differentiation (Toomes et al., 2004; Gilmour, 2015). In many affected individuals, the retinal abnormalities never lead to vision problems, in fact the secondary complications including hyper permeable blood vessels, neovascularization, retinal folds, retinal exudates and retinal detachment (21% of affected cases) are responsible for visual problems (Miyakubo et al., 1984; van Nouhuys, 1991; Poulter et al., 2010). Thus, patients with FEVR may show a variable clinical phenotypes ranging from vision loss to other presenting features including peripheral vision flashes or floaters, strabismus, leukocoria, cataract and even asymptomatic patients have been observed as well (Abeshi et al., 2017).
Familial Exudative Vitreoretinopathy (FEVR) is an inherited heterogeneous eye disorder in children that can be caused by mutations in the LRP5 gene with autosomal dominant or recessive mode of inheritance. Patients might show variable clinical features ranging from few or no visual problems to early-onset blindness. Mutations which lead to loss or gain of function in the LRP5 gene, can affect vascularization, bone density or both. In this investigation we report two children (8-year-old girl and 6-year-old boy) with severe type of FEVR from unrelated families. Both patients presented with bilateral blindness and reduced Bone Mineral Density. Next generation sequencing was used to identify the causative mutation, which revealed a novel homozygous splice-site mutation (NM_002335.4: c.686+1G>T) in the LRP5 gene in our patients. Sanger sequencing was carried out to validate the NGS result in our patients and their families that confirmed the autosomal recessive inheritance pattern in these families. Moreover, q-Real Time PCR was conducted to quantify the mRNA expression level of LRP5 gene in patients and their family members, which revealed nearly the full decrease in the LRP5 expression level in patients and around 50% decrease in the carriers of mutation compared to controls that strongly suggesting the pathogenicity of the identified mutation. Current study identified a novel pathogenic homozygous splice-site mutation in the LRP5 gene and confirms this gene's involvement in an autosomal recessive FEVR (severe form), therefore it can help to conduct an accurate genetic counseling and prenatal diagnosis for high risk families.
Outcomes of surgery in eyes with familial exudative vitreoretinopathyassociated retinal detachment
2020, Canadian Journal of Ophthalmology
Citation Excerpt :
Ikeda et al reported a success rate of about 85.7% after an average of 1.9 surgeries per eye with visual improvement in 71.4% cases.4 In a study by van Nouhuys, surgery was performed on 14 eyes of 14 patients with RD related to FEVR.6 Re-attachment of the retina occurred in 7 eyes after 1 or more procedures.
The aim of this study was to evaluate various techniques of surgical treatment of retinal detachment associated with familial exudative vitreoretinopathy (FEVR) and the factors affecting the anatomical and visual outcome.
Retrospective case series.
Patients diagnosed with FEVR associated retinal detachment and operated for the same between January 2004 and September 2017.
A retrospective chart review was conducted of all patients diagnosed with FEVR between January 2004 and September 2017. Patients with rhegmatogenous retinal detachment (RRD) and tractional retinal detachment (TRD) were included for analysis. Statistical analysis was performed using the t test for mean visual acuities, Fisher's exact test for categorical data, and the one-way analysis of variance for visual outcomes among surgical management options.
A total of 44 eyes of 38 patients diagnosed with FEVR-associated retinal detachment and operated for the same were evaluated. At the time of initial presentation, the mean age of the 38 patients was 14.6 ± 10.9 years and 57.8% were males. Out of 44 eyes that underwent surgical intervention, 79.5% cases were of RRD (n = 35), and TRD was seen in 20.5% cases (n = 9). Primary management in the form of scleral buckle was done in 14 (31.8%) eyes, with 11 eyes (78.6%) having an attached retina after a single surgery and 85.7% after multiple surgeries. Primary pars plana vitrectomy (PPV) was done in 30 (68.2%) eyes, of which 73.3% had attached retina after single surgery and 83.8% after multiple surgeries. Poor pre-operative best-corrected visual acuity, presence of TRD, and presence of falciform folds were associated with poor anatomical outcome.
Favourable outcomes can be achieved, though multiple surgical interventions may, however, be necessary for the ultimate success in some cases.
L’étude visait à évaluer les différents traitements chirurgicaux du décollement de la rétine associé à la vitréorétinopathie exsudative familiale (VREF) ainsi que les facteurs influant sur les résultats anatomiques et visuels.
Étude rétrospective d'une série de cas.
Patients ayant reçu un diagnostic de décollement de la rétine associé à la VREF pour lequel ils ont été opérés entre janvier 2004 et septembre 2017.
On a procédé à un examen rétrospectif des dossiers médicaux de tous les patients qui ont fait l'objet d'un diagnostic de VREF entre janvier 2004 et septembre 2017. Ont été inclus aux fins de l'analyse les patients qui avaient subi un décollement rhegmatogène de la rétine (DRR) ou un décollement de rétine tractionnel (DRT). L'analyse statistique reposait sur le test t pour les acuités visuelles moyennes, la méthode exacte de Fisher pour données catégorielles et l'analyse de variance à un critère de classification pour les résultats visuels obtenus grâce aux diverses options chirurgicales.
Au total, 44 yeux de 38 patients opérés pour un décollement de la rétine associé à la VREF ont été évalués. Au moment de l'examen initial, l’âge moyen des 38 patients (57,8 % d'hommes) s’élevait à 14,6 ± 10,9 ans. Sur les 44 yeux qui ont subi une intervention chirurgicale, on recense 79,5 % de DRR (n = 35) et 20,5 % de DRT (n = 9). On a d'abord procédé à une indentation sclérale dans 14 yeux (31,8 %); la rétine a pu être rattachée après une seule intervention dans 78,6 % des cas (11 yeux) et après de multiples interventions dans 85,7 % des cas. On a réalisé une vitrectomie primaire par la pars plana dans 30 yeux (68,2 %); de ce nombre, 73,3 % ont bénéficié d'un rattachement de la rétine après une seule intervention, tandis que 83,8 % des cas ont dû subir de multiples interventions. Une meilleure acuité visuelle corrigée de piètre qualité avant l'intervention, le DRT et la présence de plis falciformes étaient associés à de mauvais résultats anatomiques.
S'il est possible d'obtenir des résultats positifs, on doit recourir, dans certains cas, à plusieurs interventions chirurgicales avant de réussir à rattacher la rétine.
Characteristics of Retinal Breaks and Surgical Outcomes in Rhegmatogenous Retinal Detachment in Familial Exudative Vitreoretinopathy
2018, Ophthalmology Retina
Citation Excerpt :
Considering the anomalous vitreoretinal adhesion at the avascular retina that terminates demarcation, vitreous traction on the avascular retina might develop after liquefaction of the posterior vitreous, which results in the characteristic almond-shaped tears along the demarcation line. However, atrophic holes and typical horseshoe tears have been reported previously.5,7 Further study of peripheral vitreoretinal abnormalities is necessary to clarify the mechanism of retinal breaks in FEVR with the development of intraoperative19 or wide-field retinal OCT.20
To determine the characteristics of retinal breaks and surgical outcomes in eyes with a rhegmatogenous retinal detachment (RRD) with familial exudative vitreoretinopathy (FEVR).
Retrospective, noncomparative case series.
Thirty-seven patients (46 eyes) with a RRD in FEVR.
The medical records were reviewed and the types, directions, and positions of the retinal breaks and surgical outcomes were analyzed.
Fundus examinations, including ophthalmoscopy, fluorescein angiography, and RetCam imaging (Natus Medical Incorporated, Pleasanton, CA).
The retinal breaks were identified as tears in 12 eyes, atrophic holes in 24 eyes, tears and atrophic holes in 2 eyes, dialysis-related in 1 eye, a retinal break in the ora serrata in 1 eye, and unidentified in 6 eyes. Most retinal breaks (86.1%) were identified only in the temporal retina. Most tears (85.7%) were observed on the demarcation line, whereas atrophic holes were identified both on the demarcation line (53.8%) and the avascular retina (42.3%). The representative tears were almond-shaped, which differs from the typical horseshoe-shaped tears. Scleral buckling was performed as the initial surgery in 37 eyes and resulted in reattachment in 35 eyes (94.6%). Vitrectomy with or without scleral buckle was performed for eyes with more complex RRD in FEVR and resulted in reattachment in 5 of 9 eyes (55.6%). In total, reattachment was achieved in 40 of 46 eyes (87.0%). There was a history of stage 1A or 2A FEVR in 45 eyes and a history of stage 2B FEVR in 1 eye.
Our data clarified the types, directions, and positions of the retinal breaks and the effectiveness of scleral buckling as the first surgical choice for treating RRDs in FEVR.
Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review
2023, Genes
Surgery management and progress of familial exudative vitreoretinopathy associated retinal detachment
2023, International Eye Science

View all citing articles on Scopus

This study was supported in part by the Praeventiefonds, The Hague, The Netherlands.

Reprint requests to C. Erik van Nouhuys, M.D., Department of Ophthalmology, Canisius-Wilhelmina Hospital, P.O. Box 9015, 6500 GS Nijmegen, The Netherlands.

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Signs, Complications, and Platelet Aggregation in Familial Exudative Vitreoretinopathy

Am. J. Ophthalmol.

Am. J. Ophthalmol.

Thromb. Res.

Ophthalmology

Ophthalmology

Am. J. Ophthalmol.

Ophthalmology

Familial exudative vitreoretinopathy

Arch. Ophthalmol.

Fluorescein angiographic findings in familial exudative vitreoretinopathy

Arch. Ophthalmol.

Autosomal dominant exudative vitreoretinopathy

Br. J. Ophthalmol.

Fluorescein angiography in mild stages of dominant exudative vitreoretinopathy

Mod. Probl. Ophthalmol.

Familial exudative vitreoretinopathy

Graefes Arch. Clin. Exp. Ophthalmol.

Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina

Doc. Ophthalmol.

Gen und Ausseneigenschaft

Z. Vererbungslehre

Familial exudative vitreoretinopathy associated with familial thrombocytopathy

Br. J. Ophthalmol.

Retinal involvement in familial exudative vitreoretinopathy

Ophthalmologica