Biomaterial Database

Neuronal ceroid lipofuscinosis. Ocular histopathologic and electron microscopic studies in the late infantile, juvenile, and adult forms. 1987

E I Traboulsi, and W R Green, and M W Luckenbach, and Z C de la Cruz

Eye Pathology Laboratory, Wilmer Ophthalmological Institute, Baltimore, MD.

Diagnosis of the neuronal ceroid lipofuscinoses (NCLF), a group of recessively inherited neurolipidoses, must rely on clinical as well as light and electron microscopic histopathologic findings, as a precise biochemical defect has not yet been identified. We have studied the eyes from two patients with the late infantile and juvenile forms of the disease. On electron microscopy, we observed, almost exclusively, inclusions with curvilinear profiles in the late infantile type, while multimembranous and curvilinear bodies were seen in juvenile NCLF. In both forms of the disease, retinal destruction seems to start at the photoreceptor and outer retinal levels and progresses from the macular area to the periphery. Conjunctival biopsy is helpful in the diagnosis of these disorders, as demonstrated in the adult case presented here.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D009472	Neuronal Ceroid-Lipofuscinoses	A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.	Batten Disease,Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant,Ceroid-Lipofuscinosis, Neuronal,Jansky-Bielschowsky Disease,Kufs Disease,Santavuori-Haltia Disease,Spielmeyer-Vogt Disease,Adult Neuronal Ceroid Lipofuscinosis,Amaurotic Idiocy, Adult Type,Batten-Mayou Disease,Batten-Spielmeyer-Vogt Disease,CLN3-Related Neuronal Ceroid-Lipofuscinosis,CLN4A,CLN4B,Ceroid Lipofuscinosis, Neuronal 3, Juvenile,Ceroid Lipofuscinosis, Neuronal 4,Ceroid Lipofuscinosis, Neuronal, 3,Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive,Ceroid Lipofuscinosis, Neuronal, Parry Type,Ceroid Storage Disease,Infantile Neuronal Ceroid Lipofuscinosis,Juvenile Batten Disease,Juvenile Cerebroretinal Degeneration,Juvenile Neuronal Ceroid Lipofuscinosis,Kuf's Disease,Kufs Disease Autosomal Recessive,Kufs Disease, Autosomal Dominant,Kufs Disease, Autosomal Recessive,Kufs Type Neuronal Ceroid Lipofuscinosis,Late-Infantile Neuronal Ceroid Lipofuscinosis,Lipofuscin Storage Disease,Lipofuscinosis, Neuronal Ceroid,Neuronal Ceroid Lipofuscinosis,Neuronal Ceroid Lipofuscinosis Juvenile Type,Neuronal Ceroid Lipofuscinosis, Adult,Neuronal Ceroid Lipofuscinosis, Adult Type,Neuronal Ceroid Lipofuscinosis, Infantile,Neuronal Ceroid Lipofuscinosis, Juvenile,Neuronal Ceroid Lipofuscinosis, Late Infantile,Neuronal Ceroid Lipofuscinosis, Late-Infantile,Neuronal Ceroid-Lipofuscinosis,Spielmeyer-Sjogren Disease,Vogt Spielmeyer Disease,Vogt-Spielmeyer Disease,Batten Disease, Juvenile,Batten Diseases, Juvenile,Batten Mayou Disease,Batten Spielmeyer Vogt Disease,CLN3 Related Neuronal Ceroid Lipofuscinosis,CLN3-Related Neuronal Ceroid-Lipofuscinoses,CLN4As,Cerebroretinal Degeneration, Juvenile,Cerebroretinal Degenerations, Juvenile,Ceroid Lipofuscinosis, Neuronal,Ceroid Storage Diseases,Ceroid-Lipofuscinosis, CLN3-Related Neuronal,Disease, Ceroid Storage,Disease, Juvenile Batten,Disease, Kuf's,Disease, Lipofuscin Storage,Disease, Spielmeyer-Sjogren,Disease, Vogt Spielmeyer,Disease, Vogt-Spielmeyer,Jansky Bielschowsky Disease,Juvenile Batten Diseases,Juvenile Cerebroretinal Degenerations,Kuf Disease,Lipofuscin Storage Diseases,Neuronal Ceroid Lipofuscinoses,Neuronal Ceroid-Lipofuscinoses, CLN3-Related,Neuronal Ceroid-Lipofuscinosis, CLN3-Related,Santavuori Haltia Disease,Spielmeyer Disease, Vogt,Spielmeyer Sjogren Disease,Spielmeyer Vogt Disease,Storage Disease, Ceroid,Storage Disease, Lipofuscin
D010857	Pigment Epithelium of Eye	The layer of pigment-containing epithelial cells in the RETINA; the CILIARY BODY; and the IRIS in the eye.	Eye Pigment Epithelium
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
D012164	Retinal Diseases	Diseases involving the RETINA.	Disease, Retinal,Diseases, Retinal,Retinal Disease
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002829	Choroid	The thin, highly vascular membrane covering most of the posterior of the eye between the RETINA and SCLERA.	Choriocapillaris,Haller Layer,Haller's Layer,Sattler Layer,Sattler's Layer,Choroids
D002924	Ciliary Body	A ring of tissue extending from the scleral spur to the ora serrata of the RETINA. It consists of the uveal portion and the epithelial portion. The ciliary muscle is in the uveal portion and the ciliary processes are in the epithelial portion.	Corpus Ciliare,Corpus Ciliaris,Bodies, Ciliary,Body, Ciliary,Ciliare, Corpus,Ciliares, Corpus,Ciliari, Corpus,Ciliaris, Corpus,Ciliary Bodies,Corpus Ciliares,Corpus Ciliari
D003228	Conjunctiva	The mucous membrane that covers the posterior surface of the eyelids and the anterior pericorneal surface of the eyeball.	Bulbar Conjunctiva,Palpebral Conjunctiva,Plica Semilunaris of Conjunctiva,Plicae Semilunares of Conjunctiva,Tunica Conjunctiva,Conjunctiva, Bulbar,Conjunctiva, Palpebral,Conjunctivas