Abstract
Ocular symptoms are frequently observed in Walker-Warburg (WWS) and associated syndromes. The majority of patients present with malformations of the anterior segment and severe retinal dysplasia. We report on the findings in a female patient with WWS who died at the age of 9 months. Major ocular findings were: severe iridocorneal malformation, a membran-like structure of the lens and funnel-shaped retinal dysplasia. The retina presented various grades of differentiation with rosettes and atypical sequences of cells, e.g. ganglion cells intermingled between granular layers. The anterior part of the retina presented as a primitive homogeneous layer with a cell-free space that might be interpreted as the primary optic ventricle. This finding suggests that we are dealing with a primary dysplastic non-attachment rather than a real detachment of the retina in WWS. The malformation of the anterior segment was not typical of the Peters' anomaly, as usually described in WWS, but of Rieger's syndrome.
Similar content being viewed by others
References
Alkemade PPH (1969) Dysgenesis mesodermalis of the iris and the cornea. Van Gorcum, Assen, The Netherlands
Bach L, Seefelder R (1914) Atlas zur Entwicklungsgeschichte des menschlichen Auges. Engelmann, Leipzig
Barth RA, Pagon RA, Bunt-Milam AH (1986) “Leopard spot” retinopathy in Warburg syndrome. Ophthalmic Paediatr Genet 7:91–96
Bordarier C, Aicardi J, Goutieres F (1984) Congenital hydrocephalus and eye abnormalities with severe developmental brain defects: Warburg's syndrome. Ann Neurol 16:60–65
Chijiiwa T, Nishimura M, Inomata H, Yamana T, Narazaki O, Kurokawa T (1983) Ocular manifestations of congenital muscular dystrophy (Fukuyama type). Ann Ophthalmol 15:921–928
Dobyns WB, Pagon RA, Armstrong D, Curry CJR, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, Zimmerman RL (1989) Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 32:195–210
Levine RA, Gray DL, Gould N, Pergament E, Stillerman ML (1983) Warburg syndrome. Ophthalmology 90:1600–1603
Osawa M, Okada N, Nakada E, Sugama M, Suzuki H, Shishikura K, Hirayama Y, Saito K, Suyama A, Fukuyama Y, Tsutsumi A, Ohi I, Ito K, Uchida Y (1987) Ophthalmological findings in Fukuyama type congenital muscular dystrophy. Brain Dev 9:237
Pagon RA, Clarren SK, Milam DF, Hendrickson AE (1983) Autosomal recessive eye and brain anomalies: Warburg syndrome. J Pediatr 102:542–546
Pavone L, Gullotta F, Grasso S, Vannucchi C (1986) Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant?. Neuropediatrics 17:206–211
Peters R (1906) Über angeborene Defektbildung der Descemetschen Membran. Klin Monatsbl Augenheilkd 44:27–40
Raitta C, Lamminen M, Santavuori P, Leisti J (1978) Ophthalmological findings in a new syndrome with muscle, eye and brain involvement. Acta Ophthalmol 56:465–472
Rieger H (1935) Beiträge zur Kenntnis seltener Mißbildungen der Iris. II. Über Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille. Graefes Arch Klin Exp Opthalmol 133:602–635
Towfighi J, Sassani JW, Suzuki KL, Ladda RL (1984) Cerebroocular dysplasia—muscular dystrophy (COD-MD) syndrome. Acta Neuropathol 65:110–123
Tsusumi A, Uchida Y, Osawa M, Fukuyama Y (1989) Ocular findings in Fukuyama type congenital muscular dystrophy. Brain Dev 11:413–419
Yoshioka M, Kuroki S, Kondo T (1990) Ocular manifestations in Fukuyama type congenital muscular dystrophy. Brain Dev 12:423–426
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Gerding, H., Gullotta, F., Kuchelmeister, K. et al. Ocular findings in Walker-Warburg syndrome. Child's Nerv Syst 9, 418–420 (1993). https://doi.org/10.1007/BF00306196
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00306196