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 |
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