Biomaterial Database

Cerebro-hepato-renal syndrome of Zellweger. Ocular histopathologic findings. 1976

R Haddad, and R L Font, and D S Friendly

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.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007668	Kidney	Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.	Kidneys
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D008297	Male		Males
D009900	Optic Nerve	The 2nd cranial nerve which conveys visual information from the RETINA to the brain. The nerve carries the axons of the RETINAL GANGLION CELLS which sort at the OPTIC CHIASM and continue via the OPTIC TRACTS to the brain. The largest projection is to the lateral geniculate nuclei; other targets include the SUPERIOR COLLICULI and the SUPRACHIASMATIC NUCLEI. Though known as the second cranial nerve, it is considered part of the CENTRAL NERVOUS SYSTEM.	Cranial Nerve II,Second Cranial Nerve,Nervus Opticus,Cranial Nerve, Second,Cranial Nerves, Second,Nerve, Optic,Nerve, Second Cranial,Nerves, Optic,Nerves, Second Cranial,Optic Nerves,Second Cranial Nerves
D012160	Retina	The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.	Ora Serrata
D001847	Bone Diseases	Diseases of BONES.	Bone Disease,Disease, Bone,Diseases, Bone
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D003315	Cornea	The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed)	Corneas
D003318	Corneal Opacity	Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque.	Leukoma,Corneal Opacities,Leukomas,Opacities, Corneal,Opacity, Corneal