[Skip to Content]
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address 54.205.9.146. Please contact the publisher to request reinstatement.
[Skip to Content Landing]
Article
November 1976

Cerebro-hepato-renal Syndrome of ZellwegerOcular Histopathologic Findings

Author Affiliations

From the Registry of Ophthalmic Pathology, Armed Forces Institute of Pathology, and the Children's Hospital National Medical Center, Washington, DC.

Arch Ophthalmol. 1976;94(11):1927-1930. doi:10.1001/archopht.1976.03910040633011
Abstract

• An infant who was the product of a full-term pregnancy was born with multiple congenital defects, including diffuse bilateral corneal opacification. He failed to thrive and died at the age of 4 days. Autopsy findings were consistent with those seen in the cerebro-hepato-renal syndrome. Histopathologic examination of both eyes, obtained at autopsy, demonstrated similar changes. The main pathologic findings in the anterior segment were bilateral, diffuse corneal edema associated with paracentral iridocorneal adhesions and focal attenuation of Descemet membrane. Both retinas disclosed a selective degeneration of the outer nuclear layers and photoreceptors, confined mainly to the macular region. Atrophy of the optic disc and nerve, with reactive gliosis and demyelination, were consistent with findings in the central nervous system described in this syndrome.

×