Familial exudative vitreoretinopathy

A pedigree of familial exudative vitreoretinopathy is presented; 12 out of 37 family members examined were affected and the inheritance pattern was compatible with an autosomal dominant disease. Clinical findings and fluorescein angiographic studies of patients with the early stages of the disease support the concept that familial exudative vitreoretinopathy is a disease primarily of the small peripheral vessels leading to peripheral fibro-vascular mass lesions.

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Zusammenfassung Die Befunde von 12 Patienten mit einer familiären exsudativen Vitreoretinopathie werden beschrieben. Die Familienuntersuchung ergab, daß 12 von 37 untersuchten Patienten betroffen waren und die Erkrankung vermutlich autosomal dominant übertragen wird. Aufgrund der klinischen und fluoreszenzangiographischen Befunde bei Patienten mit den Frühstadien der Erkrankung wird die Auffassung vertreten, daß es sich bei der familiären exsudativen Vitreoretinopathie primär um eine Erkrankung der kleinen peripheren Netzhautgefäße handelt, die in den späteren Stadien zur Entwicklung fibrovaskulärer Netzhautläsionen führen kann.

     

Familial exudative vitreoretinopathy.

At age 26 years a woman who had been blind in the left eye from birth had visual acuity of R.E.: 6/18 (20/60); L.E.: 6/120 (20/400), with 40 prism diopters of left exotropia. The left eye showed a decreased anteroposterior diameter of the globe and a complete retinal detachment behind a cataractous lens. The right eye had a posterior subcapsular lens opacity severe vitreous fibrosis, dragging of the optic disk, and intraretinal and subretinal exudation with a fibrovascular mass in the temporal retina. The patient's 3-year-old daughter had 45 to 50 prism diopters of exotropia, a pendular nystagmus with intraretinal and subretinal dragging of each disk, and early degeneration and band formation in the periphery of each fundus.     

Familial exudative Criswick-Schepens vitreoretinopathy

The authors describe their own observation of a very rare form of vitreoretinal degeneration in a young man classified as familial exudative Criswick-Schepens vitreoretinopathy. The disease was detected in the second clinical stage on the right eye and in the third clinical stage on the left eye. The transmission of the disease is autosomal dominant with incomplete penetration. In the paper special emphasis is laid on differential diagnostic problems and the possibility of treatment of this disease.     

Familial exudative vitreoretinopathy and related retinopathies

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. Cases can be autosomal dominant, autosomal recessive, or X-linked. FEVR patients have an avascular peripheral retina which, depending on the degree of ischaemia, causes the secondary complications of the disease. Expressivity may be asymmetric and is highly variable. Five genes have been identified that when mutated, cause FEVR; NDP (X-linked), FZD4 (autosomal dominant and recessive), LRP5 (autosomal dominant and recessive), TSPAN12 (autosomal dominant and recessive), and ZNF408 (autosomal dominant). Four of these genes have been shown to have a central role in Norrin/Frizzled4 signalling, suggesting a critical role for this pathway in retinal angiogenesis. In addition to the ocular features, LRP5 mutations can cause osteopenia and osteoporosis. All FEVR patients in whom molecular testing is not easily accessible should have dual energy X-ray absorptiometry (DEXA) scans to assess bone mineral density, as treatment can be initiated to reduce the risk of bone fractures.     

Familial exudative vitreoretinopathy simulating Coats disease: case report

We report the case of a seven year-old male patient, born at term without any perinatal complications, referred to the Retina/Vitreous Service for diagnostic elucidation. He had a history of progressive visual acuity loss on his left eye that started four years ago. On examination, he had decreased corneal diameter and corectopia of the right eye (OD), without any noteworthy findings on the biomicroscopy of the left eye (OS). The fundus of the OD revealed total retinal detachment, and the OS initially showed peripheral retinal vascular abnormalities and retinal exudation, associated with retinal vitreous traction on the temporal sector. The CT and MRI of the brain/orbits showed no abnormalities, except for findings suggestive of an old retinal detachment on the OD, confirmed by ultrasonography, which also showed microphthalmia of the OD. The diagnosis of familial exudative vitreoretinopathy, a rare disease of autosomal dominant inheritance and related to consanguineous marriages, that can initially simulate Coats disease, was proposed. The patient was treated with diode laser photocoagulation in the temporal periphery of the OS, with improvement in the areas of vitreoretinal traction.     

Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous

PURPOSE: To report an unusual case of familial exudative vitreoretinopathy in an infant. METHODS: Case report. A 6-day-old girl had unilateral microphthalmia in the right eye, with a retrolental plaque initially diagnosed as persistent hyperplastic primary vitreous. Three months later, peripheral retinal vascular changes and a fibrovascular ridge were noted in the left eye, suggesting familial exudative vitreoretinopathy as the cause in both eyes. RESULTS: The microphthalmic right eye was unsalvageable. The left eye developed an exudative retinal detachment despite photocoagulation of the peripheral avascular retina. Additional cryotherapy resulted in resolution of the detachment and regression of the vascular changes. CONCLUSIONS: With highly asymmetric involvement, neonatal familial exudative vitreoretinopathy can mimic persistent hyperplastic primary vitreous. Fellow eye involvement can progress rapidly.     

Familial exudative vitreoretinopathy associated with familial thrombocytopathy.

Two families with familial exudative vitreoretinopathy were studied in which platelet aggregation defects were found in all the affected members. The major defect observed was absent platelet aggregation with arachidonic acid. In addition platelet aggregation with collagen and adrenaline was reduced in one severely affected member. The implication of the platelet aggregation defect in the pathogenesis of this retinal vascular disorder is discussed.     

Familial exudative vitreoretinopathy with an anterior segment vasoproliferative mass

Graefe's Archive for Clinical and Experimental Ophthalmology -     

Familial exudative vitreoretinopathy associated with persistence of hyaloid artery

Familial exudative vitreoretinopathy (FEVR) is a well-defined inherited disorder of retinal vessel development. Association of FEVR with other congenital ocular diseases has already been described. We report the first clinical case of FEVR associated with hyaloid artery persistence. An 18-year-old Tunisian woman and four members of her family (mother, two brothers, and sister) presented signs of FEVR. Examination of this patient also revealed functional hyaloid artery persistence in her right eye. These two disorders have many common aspects in their pathological process, in particular vascular endothelial growth factor expression, which can explain this association.     

Familial exudative vitreoretinopathy and macular hole exhibited in same individual

This observational case report is designed to report the first known occurrence of Familial Exudative Vitreoretinopathy (FEVR) and macular hole in the same individual. Clinical exams and fluorescein angiography were used to evaluate patient. Indirect laser panretinal photocoagulation was used to treat the right eye. A nine-year old male was diagnosed with familial exudative vitreoretinopathy in both eyes, as well as a full-thickness macular hole in his right eye. Medical histories indicated that the macular hole was not caused by trauma. Indirect laser panretinal photocoagulation was performed to treat an exudative process caused by FEVR in the right eye, and the exudative retinal detachment regressed. A vitrectomy was later also performed to treat traction retinal detachment as well as macular hole in the right eye. Our conclusion is that macular hole can be associated with familial exudative vitreoretinopathy.     

Familial exudative vitreoretinopathy (FEVR). Clinical profile and management

PURPOSE: To report our experience with the diagnosis and management of Familial Exudative Vitreoretinopathy (FEVR) in a predominantly older Indian population.. METHODS: This prospective interventional non-comparative case series included 38 patients of FEVR and their 23 family members. The diagnosis was established by clinical examination, fluorescein angiography and family screening. Prophylactic photocoagulation/cryotherapy or surgical treatment was done depending on the severity of the disease. RESULTS: The mean age of the patients was 23.6 years. The fundus/fluorescein angiographic findings in 116 eyes of our 61 patients (6 eyes phthisical) were as follows: forty eight (41.4%) eyes had only peripheral avascular zone, 8 (6.9%) eyes had peripheral new vessels, and 35 (30.1%) eyes had retinal detachments (RD)--10 (8.6%) exudative, 5 (4.3%) tractional and 20 (17.2%) rhegmatogenous. Prophylactic photocoagulation or cryotherapy was done in 34 eyes for retinal holes, local exudative detachments and bleeding new vessels. All the eyes retained stable vision over a mean follow-up of 16 months. Only 14 RDs were suitable for surgery: scleral buckling, vitrectomy or both. The reattachment rate was 85.7% (12 of 14) and the best-corrected visual acuity (BCVA) improved to 5/60 or better in 50% of these eyes over a 2-year follow-up. CONCLUSIONS: FEVR appears to be more common than reported. Timely diagnosis and intervention is essential in view of the lifelong progression of the disease, late exacerbations, frequent involvement of family members, and poor surgical results. A high index of suspicion, family screening and early prophylaxis are recommended to prevent avoidable blindness from this underdiagnosed disease.