Skip to main content
PMC home page
Transactions of the American Ophthalmological Society logoLink to Transactions of the American Ophthalmological Society
. 1995;93:473–521.

Familial exudative vitreoretinopathy.

W E Benson
PMCID: PMC1312071  PMID: 8719692

Abstract

PURPOSE: To evaluate the natural history of Familial Exudative Vitreoretinopathy (FEVR) with emphasis on the effect of the age of onset on its severity and on the development of late complications such as cataract and retinal detachment. Also, to evaluate affected patients for DNA abnormalities. METHODS: The records of thirty-nine patients with FEVR were studied. All were asked to come in for a final follow-up examination. The referring physician was asked to provide the latest findings for those who could not. On 10 patients, karyotypes were prepared. RESULTS: Only 2 of 28 patients whose onset of symptoms was prior to their third birthday had a final visual acuity of 20/200 or better. Older patients had a better prognosis, because they were more likely to have asymmetrical retinal deterioration with only one eye deteriorating. Preservation of good visual acuity into the teens and later was no guarantee that deterioration would not occur. In 3 eyes of 4 patients who were asymptomatic until 15 years of age, the final visual acuity was counting fingers or worse. In 5 patients, retinal detachment developed 6 to 17 years after apparent stabilization. The karyotype of 10 patients showed no evidence for rearrangement, altered size, translocations or deletions of chromosome 11 or any other chromosome. Of the 31 eyes in patients older than 15 years, 10 (32%) had a significant cataract. Three eyes underwent cataract surgery. CONCLUSIONS: The prognosis for infants with FEVR is extremely poor and the long-term prognosis for patients with a later onset of the condition is guarded. Retinal detachment, macular dragging, and cataract are common late complications which can develop even in patients whose eye findings appear to be stable. Karyotype studies ruled out involvement of chromosome 11 or others at a gross level, but did not exclude them at the location for some genetic defect related to FEVR because single base changes and small deletions or insertions may be undetectable by the methods utilized.

Full text

PDF
475

Images in this article

484FIGURE 1A
on p.484
485FIGURE 1B
on p.485
485FIGURE 2
on p.485
488FIGURE 3
on p.488
489FIGURE 4A
on p.489
490FIGURE 4B
on p.490
491FIGURE 5A
on p.491
491FIGURE 5B
on p.491
492FIGURE 5C
on p.492
492FIGURE 5D
on p.492
493FIGURE 6A
on p.493
493FIGURE 6B
on p.493
494FIGURE 6C
on p.494
494FIGURE 6D
on p.494
495FIGURE 6E
on p.495
496FIGURE 7A
on p.496
497FIGURE 7B
on p.497
497FIGURE 7C
on p.497
498FIGURE 7D
on p.498
499FIGURE 8A
on p.499
499FIGURE 8B
on p.499
500FIGURE 9A
on p.500
500FIGURE 9B
on p.500
503FIGURE 10
on p.503
507FIGURE 11
on p.507
508FIGURE 12
on p.508
508FIGURE 13
on p.508
509FIGURE 14
on p.509
512FIGURE 15
on p.512
513FIGURE 16
on p.513

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arkfeld D. F., Brockhurst R. J. Vascularized vitreous membranes in congenital retinoschisis. Retina. 1987 Spring;7(1):20–23. [PubMed] [Google Scholar]
  2. Benner J. D., Morse L. S., Hay A., Landers M. B., 3rd A comparison of argon and diode photocoagulation combined with supplemental oxygen for the treatment of retinopathy of prematurity. Retina. 1993;13(3):222–229. doi: 10.1097/00006982-199313030-00006. [DOI] [PubMed] [Google Scholar]
  3. Bergen R. L., Glassman R. Familial exudative vitreoretinopathy. Ann Ophthalmol. 1983 Mar;15(3):275–276. [PubMed] [Google Scholar]
  4. Boldrey E. E., Egbert P., Gass J. D., Friberg T. The histopathology of familial exudative vitreoretinopathy. A report of two cases. Arch Ophthalmol. 1985 Feb;103(2):238–241. doi: 10.1001/archopht.1985.01050020090029. [DOI] [PubMed] [Google Scholar]
  5. Bopp S., Wagner T., Laqua H. Keine Störung der arachidonsäureinduzierten Thrombozytenaggregation bei familiärer exsudativer Vitreoretinopathie. Klin Monbl Augenheilkd. 1989 Jan;194(1):13–15. doi: 10.1055/s-2008-1046328. [DOI] [PubMed] [Google Scholar]
  6. Brockhurst R. J., Albert D. M., Zakov Z. N. Pathologic findings in familial exudative vitreoretinopathy. Arch Ophthalmol. 1981 Dec;99(12):2143–2146. doi: 10.1001/archopht.1981.03930021019006. [DOI] [PubMed] [Google Scholar]
  7. Brown C. A. Incontinentia pigmenti: the development of pseudoglioma. Br J Ophthalmol. 1988 Jun;72(6):452–455. doi: 10.1136/bjo.72.6.452. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Campo R. V. Similarity of familial exudative vitreoretinopathy and retinopathy of prematurity. Arch Ophthalmol. 1983 May;101(5):821–821. doi: 10.1001/archopht.1983.01040010821028. [DOI] [PubMed] [Google Scholar]
  9. Canny C. L., Oliver G. L. Fluorescein angiographic findings in familial exudative vitreoretinopathy. Arch Ophthalmol. 1976 Jul;94(7):1114–1120. doi: 10.1001/archopht.1976.03910040034006. [DOI] [PubMed] [Google Scholar]
  10. Capone A., Jr, Diaz-Rohena R., Sternberg P., Jr, Mandell B., Lambert H. M., Lopez P. F. Diode-laser photocoagulation for zone 1 threshold retinopathy of prematurity. Am J Ophthalmol. 1993 Oct 15;116(4):444–450. doi: 10.1016/s0002-9394(14)71402-3. [DOI] [PubMed] [Google Scholar]
  11. Chaudhuri P. R., Rosenthal A. R., Goulstine D. B., Rowlands D., Mitchell V. E. Familial exudative vitreoretinopathy associated with familial thrombocytopathy. Br J Ophthalmol. 1983 Nov;67(11):755–758. doi: 10.1136/bjo.67.11.755. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Chen Z. Y., Battinelli E. M., Fielder A., Bundey S., Sims K., Breakefield X. O., Craig I. W. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet. 1993 Oct;5(2):180–183. doi: 10.1038/ng1093-180. [DOI] [PubMed] [Google Scholar]
  13. Criswick V. G., Schepens C. L. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969 Oct;68(4):578–594. doi: 10.1016/0002-9394(69)91237-9. [DOI] [PubMed] [Google Scholar]
  14. Dudgeon J. Familial exudative vitreo-retinopathy. Trans Ophthalmol Soc U K. 1979 Apr;99(1):45–49. [PubMed] [Google Scholar]
  15. Feldman E. L., Norris J. L., Cleasby G. W. Autosomal dominant exudative vitreoretinopathy. Arch Ophthalmol. 1983 Oct;101(10):1532–1535. doi: 10.1001/archopht.1983.01040020534004. [DOI] [PubMed] [Google Scholar]
  16. Fleming T. N., Runge P. E., Charles S. T. Diode laser photocoagulation for prethreshold, posterior retinopathy of prematurity. Am J Ophthalmol. 1992 Nov 15;114(5):589–592. doi: 10.1016/s0002-9394(14)74488-5. [DOI] [PubMed] [Google Scholar]
  17. Friedrich C. A., Francis K. A., Kim H. C. Familial exudative vitreoretinopathy (FEVR) and platelet dysfunction. Br J Ophthalmol. 1989 Jun;73(6):477–478. doi: 10.1136/bjo.73.6.477-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Fullwood P., Jones J., Bundey S., Dudgeon J., Fielder A. R., Kilpatrick M. W. X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. Br J Ophthalmol. 1993 Mar;77(3):168–170. doi: 10.1136/bjo.77.3.168. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Gallo J. E., Fagerholm P. Low-grade myopia in children with regressed retinopathy of prematurity. Acta Ophthalmol (Copenh) 1993 Aug;71(4):519–523. doi: 10.1111/j.1755-3768.1993.tb04629.x. [DOI] [PubMed] [Google Scholar]
  20. Gitter K. A., Rothschild H., Waltman D. D., Scott B., Azar P. Dominantly inherited peripheral retinal neovascularization. Arch Ophthalmol. 1978 Sep;96(9):1601–1605. doi: 10.1001/archopht.1978.03910060235009. [DOI] [PubMed] [Google Scholar]
  21. Goggin M., O'Keefe M. Diode laser for retinopathy of prematurity--early outcome. Br J Ophthalmol. 1993 Sep;77(9):559–562. doi: 10.1136/bjo.77.9.559. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Goldberg M. F., Custis P. H. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology. 1993 Nov;100(11):1645–1654. doi: 10.1016/s0161-6420(93)31422-3. [DOI] [PubMed] [Google Scholar]
  23. Gordon R. A., Donzis P. B. Myopia associated with retinopathy of prematurity. Ophthalmology. 1986 Dec;93(12):1593–1598. doi: 10.1016/s0161-6420(86)33523-1. [DOI] [PubMed] [Google Scholar]
  24. Gow J., Oliver G. L. Familial exudative vitreoretinopathy. An expanded view. Arch Ophthalmol. 1971 Aug;86(2):150–155. doi: 10.1001/archopht.1971.01000010152007. [DOI] [PubMed] [Google Scholar]
  25. Greven C. M., Moreno R. J., Tasman W. Unusual manifestations of X-linked retinoschisis. Trans Am Ophthalmol Soc. 1990;88:211–228. [PMC free article] [PubMed] [Google Scholar]
  26. Greven C. M., Tasman W. Rhegmatogenous retinal detachment following cryotherapy in retinopathy of prematurity. Arch Ophthalmol. 1989 Jul;107(7):1017–1018. doi: 10.1001/archopht.1989.01070020079034. [DOI] [PubMed] [Google Scholar]
  27. Greven C., Tasman W. Scleral buckling in stages 4B and 5 retinopathy of prematurity. Ophthalmology. 1990 Jun;97(6):817–820. doi: 10.1016/s0161-6420(90)32506-x. [DOI] [PubMed] [Google Scholar]
  28. Hirose T., Katsumi O., Mehta M. C., Schepens C. L. Vision in stage 5 retinopathy of prematurity after retinal reattachment by open-sky vitrectomy. Arch Ophthalmol. 1993 Mar;111(3):345–349. doi: 10.1001/archopht.1993.01090030063040. [DOI] [PubMed] [Google Scholar]
  29. Hunter D. G., Repka M. X. Diode laser photocoagulation for threshold retinopathy of prematurity. A randomized study. Ophthalmology. 1993 Feb;100(2):238–244. doi: 10.1016/s0161-6420(93)31664-7. [DOI] [PubMed] [Google Scholar]
  30. Kellner U., Brümmer S., Foerster M. H., Wessing A. X-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol. 1990;228(5):432–437. doi: 10.1007/BF00927256. [DOI] [PubMed] [Google Scholar]
  31. Keunen J. E., Hoppenbrouwers R. W. A case of sex-linked juvenile retinoschisis with peripheral vascular anomalies. Ophthalmologica. 1985;191(3):146–149. doi: 10.1159/000309577. [DOI] [PubMed] [Google Scholar]
  32. Landers M. B., 3rd, Toth C. A., Semple H. C., Morse L. S. Treatment of retinopathy of prematurity with argon laser photocoagulation. Arch Ophthalmol. 1992 Jan;110(1):44–47. doi: 10.1001/archopht.1992.01080130046024. [DOI] [PubMed] [Google Scholar]
  33. Laqua H. Familial exudative vitreoretinopathy. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1980;213(2):121–133. doi: 10.1007/BF00413539. [DOI] [PubMed] [Google Scholar]
  34. Li Y., Fuhrmann C., Schwinger E., Gal A., Laqua H. The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. Am J Ophthalmol. 1992 Jun 15;113(6):712–713. doi: 10.1016/s0002-9394(14)74800-7. [DOI] [PubMed] [Google Scholar]
  35. Li Y., Müller B., Fuhrmann C., van Nouhuys C. E., Laqua H., Humphries P., Schwinger E., Gal A. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet. 1992 Oct;51(4):749–754. [PMC free article] [PubMed] [Google Scholar]
  36. Machemer R. Late traction detachment in retinopathy of prematurity or ROP-like cases. Graefes Arch Clin Exp Ophthalmol. 1993 Jul;231(7):389–394. doi: 10.1007/BF00919646. [DOI] [PubMed] [Google Scholar]
  37. McNamara J. A., Tasman W., Brown G. C., Federman J. L. Laser photocoagulation for stage 3+ retinopathy of prematurity. Ophthalmology. 1991 May;98(5):576–580. doi: 10.1016/s0161-6420(91)32247-4. [DOI] [PubMed] [Google Scholar]
  38. McNamara J. A., Tasman W., Vander J. F., Brown G. C. Diode laser photocoagulation for retinopathy of prematurity. Preliminary results. Arch Ophthalmol. 1992 Dec;110(12):1714–1716. doi: 10.1001/archopht.1992.01080240054029. [DOI] [PubMed] [Google Scholar]
  39. Michael A. J., Pesin S. R., Katz L. J., Tasman W. S. Management of late-onset angle-closure glaucoma associated with retinopathy of prematurity. Ophthalmology. 1991 Jul;98(7):1093–1098. doi: 10.1016/s0161-6420(91)32172-9. [DOI] [PubMed] [Google Scholar]
  40. Miyakubo H., Hashimoto K., Miyakubo S. Retinal vascular pattern in familial exudative vitreoretinopathy. Ophthalmology. 1984 Dec;91(12):1524–1530. doi: 10.1016/s0161-6420(84)34119-7. [DOI] [PubMed] [Google Scholar]
  41. Miyakubo H., Inohara N., Hashimoto K. Retinal involvement in familial exudative vitreoretinopathy. Ophthalmologica. 1982;185(3):125–135. doi: 10.1159/000309234. [DOI] [PubMed] [Google Scholar]
  42. Nicholson D. H., Galvis V. Criswick-Schepens syndrome (familial exudative vitreoretinopathy). Study of a Colombian kindred. Arch Ophthalmol. 1984 Oct;102(10):1519–1522. doi: 10.1001/archopht.1984.01040031239027. [DOI] [PubMed] [Google Scholar]
  43. Nijhuis F. A., Deutman A. F., Aan de Kerk A. L. Flourescein angiography in mild stages of dominant exudative vitreoretinopathy. Mod Probl Ophthalmol. 1979;20:107–114. [PubMed] [Google Scholar]
  44. Nishimura M., Yamana T., Sugino M., Kohno T., Yamana Y., Minei M., Sanui H. Falciform retinal fold as sign of familial exudative vitreoretinopathy. Jpn J Ophthalmol. 1983;27(1):40–53. [PubMed] [Google Scholar]
  45. Noorily S. W., Small K., de Juan E., Jr, Machemer R. Scleral buckling surgery for stage 4B retinopathy of prematurity. Ophthalmology. 1992 Feb;99(2):263–268. doi: 10.1016/s0161-6420(92)31978-5. [DOI] [PubMed] [Google Scholar]
  46. Obana A., Lorenz B., Birngruber R. Transscleral and indirect ophthalmoscope diode laser retinal photocoagulation: experimental quantification of the therapeutic range for their application in the treatment of retinopathy of prematurity. Graefes Arch Clin Exp Ophthalmol. 1993 Jul;231(7):378–383. doi: 10.1007/BF00919644. [DOI] [PubMed] [Google Scholar]
  47. Ober R. R., Bird A. C., Hamilton A. M., Sehmi K. Autosomal dominant exudative vitreoretinopathy. Br J Ophthalmol. 1980 Feb;64(2):112–120. doi: 10.1136/bjo.64.2.112. [DOI] [PMC free article] [PubMed] [Google Scholar]
  48. Ohkubo H., Tanino T. Electrophysiological findings in familial exudative vitreoretinopathy. Doc Ophthalmol. 1987 Apr;65(4):461–469. doi: 10.1007/BF00143048. [DOI] [PubMed] [Google Scholar]
  49. Okubo Y., Okubo A., Kubono T., Shimizu H. [Familial exudative vitreoretinopathy, rhegmatogenous retinal detachment and postoperative uveitis with massive subretinal exudation]. Nippon Ganka Gakkai Zasshi. 1984 Aug;88(8):1151–1156. [PubMed] [Google Scholar]
  50. Peachey N. S., Fishman G. A., Derlacki D. J., Brigell M. G. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol. 1987 Apr;105(4):513–516. doi: 10.1001/archopht.1987.01060040083038. [DOI] [PubMed] [Google Scholar]
  51. Pearson R., Jagger J. Sex linked juvenile retinoschisis with optic disc and peripheral retinal neovascularisation. Br J Ophthalmol. 1989 Apr;73(4):311–313. doi: 10.1136/bjo.73.4.311. [DOI] [PMC free article] [PubMed] [Google Scholar]
  52. Plager D. A., Orgel I. K., Ellis F. D., Hartzer M., Trese M. T., Shastry B. S. X-linked recessive familial exudative vitreoretinopathy. Am J Ophthalmol. 1992 Aug 15;114(2):145–148. doi: 10.1016/s0002-9394(14)73977-7. [DOI] [PubMed] [Google Scholar]
  53. Regillo C. D., Tasman W. S., Brown G. C. Surgical management of complications associated with X-linked retinoschisis. Arch Ophthalmol. 1993 Aug;111(8):1080–1086. doi: 10.1001/archopht.1993.01090080076021. [DOI] [PubMed] [Google Scholar]
  54. Saraux H., Laroche L., Koenig F. Rétinopathie exsudative à transmission dominante. Présentation d'un nouveau pedigree. J Fr Ophtalmol. 1985;8(2):155–158. [PubMed] [Google Scholar]
  55. Schulman J., Peyman G. A., Jednock N., Larson B. Indications for vitrectomy in congenital retinoschisis. Br J Ophthalmol. 1985 Jul;69(7):482–486. doi: 10.1136/bjo.69.7.482. [DOI] [PMC free article] [PubMed] [Google Scholar]
  56. Shastry B. S., Hartzer M. K., Trese M. T. Familial exudative vitreoretinopathy: multiple modes of inheritance. Clin Genet. 1993 Nov;44(5):275–276. doi: 10.1111/j.1399-0004.1993.tb03898.x. [DOI] [PubMed] [Google Scholar]
  57. Shastry B. S., Trese M. T. X-linked familial exudative vitreoretinopathy (FEVR): results of DNA analysis with candidate genes. Am J Med Genet. 1993 Jan 1;45(1):111–113. doi: 10.1002/ajmg.1320450128. [DOI] [PubMed] [Google Scholar]
  58. Slusher M. M., Hutton W. E. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1979 Feb;87(2):152–156. doi: 10.1016/0002-9394(79)90134-x. [DOI] [PubMed] [Google Scholar]
  59. Sneed S. R., Pulido J. S., Blodi C. F., Clarkson J. G., Flynn H. W., Jr, Mieler W. F. Surgical management of late-onset retinal detachments associated with regressed retinopathy of prematurity. Ophthalmology. 1990 Feb;97(2):179–183. doi: 10.1016/s0161-6420(90)32607-6. [DOI] [PubMed] [Google Scholar]
  60. Tanino T., Katsumi O., Hirose T. Electrophysiological similarities between two eyes with X-linked recessive retinoschisis. Doc Ophthalmol. 1985 Aug 30;60(2):149–161. doi: 10.1007/BF00158030. [DOI] [PubMed] [Google Scholar]
  61. Tasman W., Augsburger J. J., Shields J. A., Caputo A., Annesley W. H., Jr Familial exudative vitreoretinopathy. Trans Am Ophthalmol Soc. 1981;79:211–226. [PMC free article] [PubMed] [Google Scholar]
  62. Tasman W., Borrone R. N., Bolling J. Open sky vitrectomy for total retinal detachment in retinopathy of prematurity. Ophthalmology. 1987 Apr;94(4):449–452. doi: 10.1016/s0161-6420(87)33432-3. [DOI] [PubMed] [Google Scholar]
  63. Tasman W., Greven C., Moreno R. Nasal retinal dragging in X-linked retinoschisis. Graefes Arch Clin Exp Ophthalmol. 1991;229(4):319–322. doi: 10.1007/BF00170688. [DOI] [PubMed] [Google Scholar]
  64. Teller J., Nissenkorn I., Ben-Sira I., Abraham F. A. Ocular dimensions following cryotherapy for active stage of retinopathy of prematurity. Metab Pediatr Syst Ophthalmol (1985) 1988;11(1-2):81–82. [PubMed] [Google Scholar]
  65. Treister G., Machemer R. Results of vitrectomy for rare proliferative and hemorrhagic diseases. Am J Ophthalmol. 1977 Sep;84(3):394–412. doi: 10.1016/0002-9394(77)90685-7. [DOI] [PubMed] [Google Scholar]
  66. Trese M. T. Scleral buckling for retinopathy of prematurity. Ophthalmology. 1994 Jan;101(1):23–26. doi: 10.1016/s0161-6420(94)31362-5. [DOI] [PubMed] [Google Scholar]
  67. Trese M. T. Surgical therapy for stage V retinopathy of prematurity. A two-step approach. Graefes Arch Clin Exp Ophthalmol. 1987;225(4):266–268. doi: 10.1007/BF02150145. [DOI] [PubMed] [Google Scholar]
  68. Ueda N., Ogino N. Angle-closure glaucoma with pupillary block mechanism in cicatricial retinopathy of prematurity. Ophthalmologica. 1988;196(1):15–18. doi: 10.1159/000309868. [DOI] [PubMed] [Google Scholar]
  69. Zilis J. D., deJuan E., Machemer R. Advanced retinopathy of prematurity. The anatomic and visual results of vitreous surgery. Ophthalmology. 1990 Jun;97(6):821–826. [PubMed] [Google Scholar]
  70. van Nouhuys C. E. Congenital retinal fold as a sign of dominant exudative vitreoretinopathy. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1981;217(1):55–67. doi: 10.1007/BF00410881. [DOI] [PubMed] [Google Scholar]
  71. van Nouhuys C. E. Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. Doc Ophthalmol. 1982 Sep 23;54(1-4):1–414. doi: 10.1007/BF00183127. [DOI] [PubMed] [Google Scholar]
  72. van Nouhuys C. E. Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. Am J Ophthalmol. 1991 Jan 15;111(1):34–41. doi: 10.1016/s0002-9394(14)76893-x. [DOI] [PubMed] [Google Scholar]

Articles from Transactions of the American Ophthalmological Society are provided here courtesy of American Ophthalmological Society

RESOURCES