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خرید پکیج
تعداد ایتم قابل مشاهده باقیمانده : 3 مورد
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Ophthalmologic findings in inborn errors of metabolism, according to age of onset

Ophthalmologic findings in inborn errors of metabolism, according to age of onset
Finding/age of onset Related disorders
Cataract
Birth Lowe syndrome, peroxisomal biogenesis defects, Cockayne syndrome, sorbitol dehydrogenase deficiency
1 week to 1 month Galactosemia, peripheral epimerase deficiency, 3-phosphoglycerate dehydrogenase deficiency, congenital disorders of glycosylation
1 month to 1 year Galactokinase deficiency, galactitol or sorbitol accumulation, sialidosis, mitochondrial disorders, mevalonic aciduria
1 to 15 years Dominant hyperferritinemia, Wilson disease, lysinuric protein intolerance
Corneal opacity
3 to 12 months Tyrosinosis type II, cystinosis, I-cell disease, mucopolysaccharidosis type I, type VI, steroid sulfatase deficiency
1 to 6 years Mucopolysaccharidosis type IV, alpha mannosidosis, Tangier disease
>6 years Fabry disease, galactosialidosis, Wilson disease
Cherry-red spot
Neonates GM1 gangliosidosis, galactosialidosis (early infantile form), Niemann-Pick disease type IA
3 to 12 months Galactosialidosis (late infantile form), Tay-Sachs disease, Sandhoff disease
>6 years Sialidosis type I, galactosialidosis (juvenile form)
Retinitis pigmentosa Abetalipoproteinemia, ceroid lipofuscinosis, peroxisomal disorders, congenital disorders of glycosylation, mitochondrial disorders
Dislocated lens Homocystinuria, sulfite oxidase deficiency, molybdenum cofactor deficiency
Adapted from Saudubray JM, Chappentier C. Clinical phenotypes: Diagnosis/algorithms. In: Metabolic and Molecular Bases of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill, New York, 2001. p. 1327.
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