blindness, visual loss, visual impairment

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blindness, visual loss, visual impairment

Associated Diseases	Laboratory Findings	Clinical Symptoms
2-HYDROXYGLUTARIC ACIDEMIA (L) MIM:236792 2-HYDROXYGLUTARIC ACIDURIA (D) MIM:600721 ADRENOLEUKODYSTROPHY, X-LINKED MIM:300100 ALPERS DISEASE MIM:203700 ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE I: SCHINDLER DISEASE MIM:104170 CANAVAN DISEASE MIM:271900 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ie MIM:608799 CONGENITAL DISORDER OF GLYCOSYLATION CDG-If MIM:604041 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik MIM:608540 G(M2)-GANGLIOSIDOSIS: GM2 ACTIVATOR DEFICIENCY MIM:272750 G(M2)-GANGLIOSIDOSIS: VARIANT 0, SANDHOFF DISEASE MIM:268800 G(M2)-GANGLIOSIDOSIS: VARIANT B, TAY-SACHS DISEASE MIM:272800 GALACTOSIALIDOSIS MIM:256540 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE MIM:250940 HYPERGLYCINEMIA, NON-KETOTIC MIM:605899 HYPERORNITHINEMIA WITH GYRATE ATROPHY (HOGA) MIM:258870 INFECTIONS OF THE NEWBORN (TORCH) [DD] KRABBE DISEASE MIM:245200 LEBER'S HEREDITARY OPTIC NEUROPATHY, LHON MIM:535000 LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD) MIM:143450 MUCOLIPIDOSIS IV MIM:252650 MUCOPOLYSACCHARIDOSIS I-H. HURLER SYNDROME MIM:607014 MUCOPOLYSACCHARIDOSIS I-S. SCHEIE SYNDROME MIM:607016 MUCOPOLYSACCHARIDOSIS VI. MAROTEAUX-LAMY SYNDROME MIM:253200 MULTIPLE SULFATASE DEFICIENCY (MSD) MIM:272200 NARP SYNDROME MIM:551500 NEURONAL CEROID LIPOFUSCINOSIS. KUF'S DISEASE. BATTEN DISEASE. JANSKY-BIELSCHOWSKY. SPIELMEYER-VOGT. HALTIA-SANTAVUORI MIM:256730 SARCOSINEMIA MIM:268900 SIALIDOSIS TYPE I MIM:256550 SIALIDOSIS TYPE II MIM:256550 TRYPTOPHANURIA MIM:276100 VITAMIN E DEFICIENCY (AVED) MIM:277460	2-Aminopiperid-2-one 2-Hydroxyglutaric acid (D) 2-Hydroxyglutaric acid (L) 2-Oxoglutaric acid 3-Hydroxyacyl-CoA dehydrogenase 3-Hydroxyadipic acid 3-Hydroxybutyric acid 3-Hydroxyoleoylcarnitine (C18:1-OH) 3-Hydroxypalmitoylcarnitine (C16-OH) 3-Hydroxysebacic acid 3-Hydroxystearoylcarnitine (C18-OH) 3-Hydroxysuberic acid 5-Oxoproline AEP (auditory evoked potentials) abnormal [-] alpha-Iduronidase alpha-N-Acetylgalactosaminidase alpha-Neuraminidase Ammonia Antithrombin III (AT III) Arginine Arylsulfatase A Arylsulfatase B Arylsulfatase C Aspartoacylase beta-1 4-mannosyltransferase beta-Galactosidase beta-Hexosaminidase C24:0/C22:0 C26:0 C26:0/C22:0 C26:1 Carnitine Chitotriosidase Citrulline Coagulopathy/Coagulation factors Complex I activity conjunctival biopsy abnormal Creatinine kinase CT brain abnormalities [-] Dermatan sulfate Dicarboxylic acids urine DNA ECG abnormalities [-] EEG abnormalities [-] Electron microscopy [-] EMG abnormalities [-] Galactosylceramidase gamma-Aminobutyric acid Glucose Glutamic acid Glutamate Glutamine Glycine cleavage enzyme Glycine Glycopeptides GM2 activator protein Heparan sulfate Heparan-N-sulfamidase Hexosaminidase A Hexosaminidase B Homocystine Iduronide-2-sulfate sulfatase Kynurenine Lactate Long chain acyl carnitines Long-chain 3-hydroxyacyl-CoA dehydrogenase Lymphocytes vacuoles Lysine Methionine Methylmalonic acid MRI brain abnormalities [-] MRI brain white matter abnormalities [-] MRI muscle abnormalities [-] MRS brain abnormalities [-] Mucopolysaccharides urine muscle biopsy abnormal Myoglobin N-Acetylaspartic acid N-Acetylgalactosamin-4-sulfate sulfatase N-Acetylgalactosamin-6-sulfate sulfatase N-Acetylglucosamine-6-sulfate sulfatase Neuraminidase Oleoylcarnitine (C18:1) Oligosaccharides Ornithine Ornithine-delta-aminotransferase pH Pipecolic acid Protein total spinal fluid Protein urine Sarcosine SEP (sensory evoked potentials) abnormal [-] Sialyloligosaccharides skin biopsy abnormal Transaminases Transferrin Tryptophan VEP (visual evoked potentials) abnormal [-] VER abnormal [-] Very-long-chain fatty acid oxidation Very-long-chain fatty acids Vitamin E	adrenal insufficiency alopecia Amino acid, spinal fluid Amino acids, plasma Amino acids, urine anemia angiokeratoma apnea areflexia ascites ataxia behavior, abnormal or bizarre, confusion behavior, autism or autistic-like behavior, hyperactive, restless bleeding tendencies, hemorrhages blindness, visual loss, visual impairment broad thumbs brown colored urine cardiac arrhythmia, dysrhythmia cardiomegaly cardiomyopathy carpal tunnel syndrome cataract cerebellar atrophy or hypoplasia cerebral atrophy cherry-red spot on retinal macula chorea or athetosis chorioretinitis cirrhosis or fibrosis of liver coarse facial features coma constipation contractures, joints corneal clouding corneal deposits corpus callosum, agenesis/hypoplasia cranial synostosis decreased muscle volume, atrophy or hypoplasia defect of deep tendon reflexes defect of walking, running, rising or climbing dementia diarrhea dysarthria dysmorphism dysostosis multiplex dysphagia dystonia early death eczematoid skin rush edema encephalopathy extrapyramidal signs eye defect beginning in infancy or childhood failure to thrive feeding difficulties feeding difficulties, poor feeding fetal akinesia/hypokinesia sequence fever flat depressed nasal bridge (saddle nose) glaucoma great toes growth retardation headache (severe, recurrent or occipital, migraine) hearing defect, deafness heart failure heart involvement HELLP syndrome hemangioma hernia hydrocephalus hydrops fetalis hyperacusis hyperammonemia hyperpigmentation hyperreflexia hypertonia, spasticity hypoglycemia hypotonia ichthyosis impaired visual acuity infantile spasms infections (severe or recurrent) inguinal hernia irritability jaundice joint stiffness kyphoskoliosis lactic acidosis large liver large spleen lens opacities lethargy, drowsiness, malaise or sleep disorder liver failure liver involvement (acute, chronic, hepatitis) macrocephaly (large calvaria, >2 SD for age) macroglossia, large/protuding tongue maternal acute fatty liver of pregnancy mental retardation metabolic acidosis metaphyseal dysplasia microcephaly motor retardation muscle weakness myelopathy myocarditis myoclonus myopathy myopia neurological deterioration night blindness no clinical signs or symptoms normal at birth nystagmus obstructive airway disease onset, adolescent onset, adult onset, child onset, fetus onset, infant onset, newborn opisthotonus optic atrophy Organic acid, spinal fluid Organic acids, plasma Organic acids, urine pericardial effusion peripheral neuropathy petechiae photophobia or photosensitive defect in light-exposed area pneumonia poor head control preeclampsia, maternal prematurity progressive neurologic defect prominent abdomen psychosis pyramidal signs respiratory insufficiency retinal or macular degeneration retinitis pigmentosa retinopathy rhabdomyolysis seizures short stature skeletal changes skin rushes skin, thickened spastic diplegia/quadriplegia speech development, delayed, abnormal strabismus swallowing difficulties sweating tachypnea, hyperpnea, dyspnea, respiratory distress thrombopenia, thrombocytopenia tremor or twitching tubulopathy umbilical hernia vertebral changes vomiting X-ray, abnormalities xanthoma