• 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.
Haddad R, Font RL, Friendly DS. Cerebro-hepato-renal Syndrome of Zellweger: Ocular Histopathologic Findings. Arch Ophthalmol. 1976;94(11):1927–1930. doi:10.1001/archopht.1976.03910040633011
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