Abstract
Retinal dysplasia is defined as an abnormal growth and differentiation of embryonic retina being more a secondary lesion rather than a disease. Clinically, the disorder may present itself in a surprisingly wide range of severity or of degree from retinal folds to vascularized masses in the vitreous cavity. The condition may appear monosymptomatically, involving only the eye, or as complex disorders with multisystemic anomalies. The histopathologic findings in this disorder recognize characteristic structural deviations of the retina and the pathogenesis seems to be related to the lack of the normal histogenesis of the pigment epithelium. Impaired genetic mechanisms seem to contribute to the etiology of some forms of retinal dysplasia.
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Albert, DM, Lahav, M, Colby, ED, Shadduck, JA and Sang, DN (1977) Retinal neoplasia and dysplasia. I. Induction by feline leukemia virus. Invest Ophthal Vis Sci 16: 325–337.
Amalric, P (1968) Un nouveau type de plis rétiniens congénitaux. Arch Ophtal (Paris) 28: 507–512.
Andersen, SR (1971) Differentiation features in some retinal tumors and in dysplastic retinal conditions. Amer J Ophthal 71: 231–241.
Babel, J (1966) Les malformations pseudotumorales du globe oculaire. Ophthalmologica 151: 405–426.
Barsewisch, B. von (1968) Ablatio falciformis. Ber. Dtsch. Ophthal. Ges. 69: 481–489.
Bernheimer, S (1894) Ein Beitrag zur Kenntniss der Missbildungen des Auges. Arch Augenheilk 28: 241–253.
Bistner, SI, Rubin, LF and Saunders, LZ (1970) The ocular lesions of bovine viral diarrhea mucosal disease. Vet Path 7: 275–283.
Cogan, DG (1971) Congenital anomalies of the retina. Birth Def Orig Art Ser 7: 41–51.
Cogan, DG and Kuwabara, T (1964) Ocular pathology of the 13–15 trisomy syndrome. Arch Ophthal 72: 246–253.
De, Mayer W (1967) The median cleft-face syndrome. Neurology 17: 961–971.
Duke, Elder S (1964) System of Ophthalmology, Vol 3, Part 2 Cong Deform. pp 628. London, Kimpton.
Esterman, B (1949) Congenital retinal folds. Amer J Ophthal 32: 276–281.
Fitch, N and Pinsky, L (1973) The Meckel syndrome with limited expression in relatives. Clin Genet 4: 33–37.
Franceschetti, A (1954) Pseudo-gliome familial du type inflammatoire avec consanguinite des parents. J Genet Hum 3: 82–85.
Fulton, AB, Craft, JL, Howard, RO and Albert, DM (1978) Human retinal dysplasia. Amer J Ophthal 85: 690–698.
Gartner, S (1947) Cyclopia. Arch Ophthal 37: 220–228.
Godel, V, Romano, A, Stein, R, Adam, A and Goodman, RM (1978) Primary retinal dysplasia transmitted as X-chromosome-linked recessive disorder. Amer J Ophthal 86: 221–227.
Godel, V, Treister, G, Nemet, P and Lazar, M (1979) Falciform fold of retina. Can J Ophthal 14: 192–194.
Godel V and Goodman RM (1981) X-linked recessive primary retinal dysplasia. Clinical findings in affected males and carrier females. Clin Genet (in press).
Goldstein, I and Wexler, D (1931) Rosette formation in eyes of irradiated human embryos. Arch Ophthal 5: 591–614.
Gordon, M (1959) Pigment cell biology. In: Proc 4th Conf Biol Pigm Cell Growth. New York, Academic Press.
Hale, F (1935) The relation of vitamine A to anophthalmos in pigs. Amer J Ophthal 18: 1087–1089.
Hamburg, A (1963) Pseudoglioma. Ophthalmologica 146: 355–357.
Hunter, WS and Zimmerman, LE (1965) Unilateral retinal dysplasia. Arch Ophthal 74: 23–30.
Irvine, AR, Albert, DM and Sang, DN (1977) Retinal neoplasia and dysplasia. II. Retinoblastoma occurring with persistence and hyperplasia of the primary vitreous. Invest Ophthal Vis Sci 16: 403–407.
Jeseberg, DO (1962) Ocular malformations of chick embryo produced by photocoagulation. Invest Ophthal 1: 348–359.
Krause, AC (1946) Congenital encephalo-ophthalmic dysplasia. Arch Ophthal 36: 387–444.
Lahav, M, Albert, DM and Wyand, S (1973) Clinical and histopathologic classification of retinal dysplasia. Amer J Ophthal 75: 648–667.
Laval, J and Chatzinoff, A (1955) Congenital retinal detachment in microphthalmia associated with internal hydrocephalus. J Mt Sinai Hosp 22: 54–57.
Lucus, DR (1961) The effect of X-radiation on the mouse retina at different steps of development. Int J Radiol Biol 3: 105–116.
Lyon, MF (1961) Gene action in the X-chromosome of the mouse (Mus musculus L.) Nature 190: 372–375.
Mackensen, G (1953) Angeborene Netzhautfalten und Persistenz der Glaskörpergefässe. Klin Mbl Augenheilk 123: 417–429.
Malbran, J and Adrogue, E (1938) Angeborene Falten der Netzhaut. Zbl Ges Ophthal 40: 406–413.
Manen, JGV (1944) Décollement rétinien falciforme congénital et anomalies congé-nitales connexes. Ophthalmologica 107: 121–148.
Mann, I (1957) Developmental abnormalities of the eye. 2nd ed. Philadelphia, Lippincott, pp 188–210.
Masuda, Y (1962) Two cases of ablatio falciformis congenita and two other cases of ocular congenital anomalies, which appeared in a pedigree with consanguineous marriages. J Clin Ophthal (Tokyo) 16: 325–331.
Miller, M, Robbins, J, Fishman, R, Medenis, R and Rosenthal, I (1963) A chromosomal anomaly with multiple ocular defects including retinal dysplasia. Amer J Ophthal 55: 901–910.
Nance, NE, Hara, S, Hansen, A, Elliot, J, Lewis, M and Chowe, B (1969) Genetic linkage studies in a negro kindred with Norrie's disease. Amer J Hum Genet 21: 423–434.
Opitz, JN and Howe, JJ (1969) The Meckel syndïome. Birth Def Orig Art Ser 5: 167–171.
Percy, DH, Carmichael, LE, Albert, DM, King, JM and Jonas, AM (1971) Lesions in puppies surviving infection with canine herpesvirus. Vet Path 8: 37–49.
Phillips, CI, Leighton, DA and Forrester, RM (1973) Congenital hereditary bilateral non-attachment of retina. Acta Ophthal 51: 425–433.
Reese, AB and Blodi, FC (1950) Retinal dysplasia. Amer J Ophthal 33: 23–32.
Reese, AB and Straatsma, BR (1958) Retinal dysplasia. Amer J Ophthal 45: 199–211.
Ricci A (1969) Les dysplasies hyaloideo-rétiniennes congénitales et leur diagnostic differentiel. J Gen Hum 17: Suppl.
Sadeh M, Goldhamer Y, Shaked Y, Tadmor R and Godel V (1981) Basal encephalocele associated with epidermoid cyst. Arch Neurol (in press).
Saraux, H, Frézal, J, Roy, C, Aron, JJ, Hayat, B and Lamy, M (1967) Pseudo-gliome et fragilité osseuse héréditaire à transmission autosomale récessive. Ann Oculist 200: 1241–1252.
Saraux, H, Miller, H, Mawas, J, Mawas, E and Prépin, F (1969) La dysplasie hyaloido-rétinienne (pseudogliome) a hérédité récessive autosomale. Ann Oculist 202: 1131–1137.
Scialdone, D and Artifoni, E (1962) L'ablatio falciformis congenita. G Ital Oftal 15: 256–274.
Shively, JN, Phemister, RD and Epling, GP (1967) Alterations in the fine structure of the mature retina of dogs irradiated as neonates. Exp Eye Res 6: 278–282.
Shively, JN, Phemister, RD, Epling, GP and Jenses, R (1970) Pathogenesis of radiation induced retinal dysplasia. Invest Ophthal 9: 888–899.
Silverstein, AM (1974) Retinal dysplasia and rosettes induced by experimental intrauterine trauma. Amer J Ophthal 77: 51–58.
Silverstein, AM, Osburn, BI and Prendergast, RA (1971) The pathogenesis of retinal dysplasia. Amer J Ophthal 72: 13–21.
Silverstein, AM, Parshall, CJ, Osburn, BI and Prendergast, RA (1971) An experimental, virus-induced retinal dysplasia in the fetal lamb. Amer J Ophthal 72: 22–34.
Snell, AC (1965) Retinal dysplasia. Amer J Ophthal 60: 621–627.
Tansley, K (1933) The formation of rosettes in the rat retina. Brit J Ophthal 17: 321–332.
Theodore, FH and Ziporkes, J (1940) Congenital retinal fold. Arch Ophthal 23: 1188–1197.
Warburg M (1966) Norrie's disease. Acta Ophthal Suppl 89.
Warburg, M (1971) Norrie's disease. Birth Def Orig Art Ser 7: 138–154.
Warburg, M (1974) Norrie's disease and falciform detachment of the retina. In: Genetic and Metabolic Eye Disease, ed.: Goldberg. Boston, Little, Brown and Co., pp 441–446.
Warburg, M (1975) Norrie's disease: differential diagnosis and treatment. Acta Ophthal 53: 217–236.
Warburg, M (1976) Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. Hum Hered 26: 137–148.
Warburg, M and Andersen, SR (1968) Ocular changes in simple trisomy and in a few cases of partial trisomy. Acta Ophthal 46: 372–384.
Warkany, J and Schraffenberger, E (1944) Congenital malformations of the eyes induced in rats by maternal vitamine A deficiency. Proc Soc Exp Biol Med 57: 49–58.
Weve, HJM (1938) Ablatio falciformis congenita (retinal fold). Brit J Ophthal 22: 456–469.
Wintersteiner, H (1894) Ueber Bau, Wachsthum und Genese des Glioma retinal. Wien Klin Wschr 7: 493–498.
Yanoff, M and Fine, BS (1975) Ocular pathology. A text and atlas. Hagerstown, Harper & Row, p. 392.
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Godel, V., Nemet, P. & Lazar, M. Retinal dysplasia. Doc Ophthalmol 51, 277–288 (1981). https://doi.org/10.1007/BF00143890
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DOI: https://doi.org/10.1007/BF00143890