Biomaterial Database

[Maculopathy in hereditary metabolic diseases]. 1996

B Stănescu-Segall

Clinique Fondation Lambert, Bruxelles.

It was effected one study for fifteen children between two month and six years old with different diseases MDH (metabolic hereditary diseases) GM2 (Tay-Sachs and Sandhoff) (amaurotic idiocy), ceroid lipofuscinosis (Spielmeyer-Vogt-Batten-Mayou). Leigh maladie and other forms by MHD with unspecified diagnosis. It was effected neurologic exam, enzymatic measures, conjunctival biopsy, ophthalmologic exam with electroretinogram and evoked potentials. It was found an important element by differential diagnosis between gangliosidosis with normal ERG and ceroid lipofuscinosis with perturbate ERG. ERG is frequent precocious adulterated.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008266	Macula Lutea	An oval area in the retina, 3 to 5 mm in diameter, usually located temporal to the posterior pole of the eye and slightly below the level of the optic disk. It is characterized by the presence of a yellow pigment diffusely permeating the inner layers, contains the fovea centralis in its center, and provides the best phototropic visual acuity. It is devoid of retinal blood vessels, except in its periphery, and receives nourishment from the choriocapillaris of the choroid. (From Cline et al., Dictionary of Visual Science, 4th ed)	Lutea, Macula,Luteas, Macula,Macula Luteas
D008297	Male		Males
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D009887	Ophthalmoscopy	Examination of the interior of the eye with an ophthalmoscope.	Ophthalmoscopies
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
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D004596	Electroretinography	Recording of electric potentials in the retina after stimulation by light.	Electroretinographies
D005260	Female		Females