Visual impairment
Symptom Information:
Symptom ID: | HPO:0000505 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the eye(HPO:0000478) Abnormal eye physiology(HPO:0012373) Abnormality of vision(HPO:0000504) Visual impairment(HPO:0000505) MedDRA: Eye disorders(MedDRA:10015919) Vision disorders(MedDRA:10047518) Visual disorders NEC(MedDRA:10047541) Visual impairment(HPO:0000505) Partial vision loss(MedDRA:10034069) Visual impairment(HPO:0000505) |
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Database Frequency: | 297 / 7739 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
1p36 deletion syndrome | (Orphanet:1606) |
2q23.1 microdeletion syndrome | (Orphanet:228402) |
3-methylglutaconic aciduria type 3 | (Orphanet:67047) |
ACHROMATOPSIA 4 | (OMIM:613856) |
ALG2-CDG | (Orphanet:79326) |
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY | (OMIM:614307) |
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES | (OMIM:300887) |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION | (OMIM:270500) |
ATTRV122I amyloidosis | (Orphanet:85451) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Adult-onset foveomacular vitelliform dystrophy | (Orphanet:99000) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Alpers syndrome | (Orphanet:726) |
Alström syndrome | (Orphanet:64) |
Aniridia - ptosis - intellectual deficit - familial obesity | (Orphanet:1067) |
Arthrogryposis with oculomotor limitation and electroretinal anomalies | (Orphanet:1154) |
Autoimmune polyendocrinopathy type 1 | (Orphanet:3453) |
Autosomal dominant nonsyndromic intellectual deficit | (Orphanet:178469) |
Autosomal dominant optic atrophy and cataract | (Orphanet:67036) |
Autosomal dominant optic atrophy and congenital deafness | (Orphanet:3212) |
Autosomal dominant optic atrophy plus syndrome | (Orphanet:1215) |
Autosomal dominant optic atrophy, classic type | (Orphanet:98673) |
Autosomal dominant spastic paraplegia type 6 | (Orphanet:100988) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Autosomal recessive optic atrophy, OPA6 type | (Orphanet:99012) |
Autosomal recessive optic atrophy, OPA7 type | (Orphanet:227976) |
Autosomal recessive palmoplantar keratoderma and congenital alopecia | (Orphanet:1366) |
Autosomal recessive progressive external ophthalmoplegia | (Orphanet:254886) |
Autosomal recessive spastic paraplegia type 11 | (Orphanet:2822) |
Autosomal recessive spastic paraplegia type 15 | (Orphanet:100996) |
Autosomal recessive spastic paraplegia type 55 | (Orphanet:320375) |
Axial spondylometaphyseal dysplasia | (Orphanet:168549) |
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME | (OMIM:615722) |
Bardet-Biedl syndrome 1 | (OMIM:209900 ) |
Bardet-Biedl syndrome 10 | (OMIM:615987) |
Bardet-Biedl syndrome 12 | (OMIM:615989) |
Bardet-Biedl syndrome 18 | (OMIM:615995) |
Bardet-Biedl syndrome 2 | (OMIM:615981) |
Bardet-Biedl syndrome 3 | (OMIM:600151) |
Bardet-Biedl syndrome 4 | (OMIM:615982) |
Bardet-Biedl syndrome 5 | (OMIM:615983) |
Bardet-Biedl syndrome 6 | (OMIM:605231) |
Bardet-Biedl syndrome 7 | (OMIM:615984) |
Behr syndrome | (Orphanet:1239) |
Best vitelliform macular dystrophy | (Orphanet:1243) |
Beta-thalassemia major | (Orphanet:231214) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Blue cone monochromatism | (Orphanet:16) |
Bonnemann-Meinecke-Reich syndrome | (Orphanet:1261) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Bradyopsia | (Orphanet:75374) |
Buschke-Ollendorff syndrome | (Orphanet:1306) |
CADASIL | (Orphanet:136) |
CATARACT 2, MULTIPLE TYPES | (OMIM:604307) |
CATARACT 9, MULTIPLE TYPES | (OMIM:604219) |
CHARGE syndrome | (Orphanet:138) |
CINCA syndrome | (Orphanet:1451) |
CLN11 disease | (Orphanet:314629) |
COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | (OMIM:216820) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 | (OMIM:615578) |
CONE DYSTROPHY 4 | (OMIM:613093) |
CONE-ROD DYSTROPHY 13 | (OMIM:608194) |
CONE-ROD DYSTROPHY 20 | (OMIM:615973) |
CONE-ROD DYSTROPHY 7 | (OMIM:603649) |
CONE-ROD DYSTROPHY 9 | (OMIM:612775) |
CONE-ROD DYSTROPHY, X-LINKED, 1 | (OMIM:304020) |
CONE-ROD DYSTROPHY, X-LINKED, 3 | (OMIM:300476) |
CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS | (OMIM:121390) |
CORNEAL DYSTROPHY, LATTICE TYPE IIIA | (OMIM:608471) |
CYSTINOSIS, NEPHROPATHIC | (OMIM:219800) |
Celiac disease, epilepsy and cerebral calcification syndrome | (Orphanet:1459) |
Cerebroretinal vasculopathy | (Orphanet:3421) |
Cherubism | (Orphanet:184) |
Chorioretinopathy, Birdshot type | (Orphanet:179) |
Choroidal atrophy - alopecia | (Orphanet:1433) |
Choroideremia | (Orphanet:180) |
Choroideremia - hypopituitarism | (Orphanet:1434) |
Chédiak-Higashi syndrome | (Orphanet:167) |
Citrullinemia type II | (Orphanet:247585) |
Cogan syndrome | (Orphanet:1467) |
Cohen syndrome | (Orphanet:193) |
Combined oxidative phosphorylation defect type 14 | (Orphanet:319519) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Combined oxidative phosphorylation defect type 7 | (Orphanet:254930) |
Combined oxidative phosphorylation deficiency type 23 | (ORPHA:444013) |
Cone rod dystrophy | (Orphanet:1872) |
Congenital toxoplasmosis | (Orphanet:858) |
Corneal anesthesia - deafness - intellectual deficit | (Orphanet:1051) |
Creutzfeldt-Jakob disease | (Orphanet:204) |
Crouzon disease | (Orphanet:207) |
Cushing disease | (Orphanet:96253) |
Cystinosis | (Orphanet:213) |
Dermatoosteolysis, Kirghizian type | (Orphanet:1657) |
EDICT syndrome | (Orphanet:293936) |
EXUDATIVE VITREORETINOPATHY 4 | (OMIM:601813) |
EXUDATIVE VITREORETINOPATHY 5 | (OMIM:613310) |
Ectopia lentis - chorioretinal dystrophy - myopia | (Orphanet:1884) |
Erdheim-Chester disease | (Orphanet:35687) |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 | (OMIM:602078) |
FOVEAL HYPOPLASIA 2 | (OMIM:609218) |
Familial LCAT deficiency | (Orphanet:79293) |
Familial amyloid polyneuropathy | (Orphanet:85447) |
Familial drusen | (Orphanet:75376) |
Filippi syndrome | (Orphanet:3255) |
Flynn-Aird syndrome | (Orphanet:2047) |
Focal dermal hypoplasia | (Orphanet:2092) |
Foveal hypoplasia - presenile cataract | (Orphanet:2253) |
Friedreich ataxia 1 | (OMIM:229300) |
Fumaric aciduria | (Orphanet:24) |
Galactosemia | (Orphanet:352) |
Gelatinous drop-like corneal dystrophy | (Orphanet:98957) |
Glycogen storage disease due to LAMP-2 deficiency | (Orphanet:34587) |
Granular corneal dystrophy type II | (Orphanet:98963) |
HELSMOORTEL-VAN DER AA SYNDROME | (OMIM:615873) |
HERNS syndrome | (Orphanet:63261) |
Hereditary benign intraepithelial dyskeratosis | (Orphanet:352657) |
Hereditary vascular retinopathy | (Orphanet:71291) |
Hermansky-Pudlak syndrome | (Orphanet:79430) |
Hermansky-Pudlak syndrome type 7 | (Orphanet:231531) |
Hermansky-Pudlak syndrome type 8 | (Orphanet:231537) |
Hermansky-Pudlak syndrome with neutropenia | (Orphanet:183678) |
Hermansky-Pudlak syndrome without pulmonary fibrosis | (Orphanet:231512) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hyperammonemia due to N-acetylglutamate synthetase deficiency | (Orphanet:927) |
Hypertryptophanemia | (Orphanet:2224) |
Hypomyelination with atrophy of basal ganglia and cerebellum | (Orphanet:139441) |
Hypoplasminogenemia | (Orphanet:722) |
Hypotrichosis with juvenile macular degeneration | (Orphanet:1573) |
Hypouricemia, renal, 1 | (OMIM:220150) |
Hypouricemia, renal, 2 | (OMIM:612076) |
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES | (OMIM:615966) |
Infantile Refsum disease | (Orphanet:772) |
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome | (Orphanet:369837) |
Isolated aniridia | (Orphanet:250923) |
Isolated optic nerve hypoplasia | (Orphanet:137902) |
Isolated succinate-CoQ reductase deficiency | (Orphanet:3208) |
Jalili syndrome | (Orphanet:1873) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 3 | (OMIM:608629) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Juvenile neuronal ceroid lipofuscinosis | (Orphanet:79264) |
KID syndrome | (Orphanet:477) |
LCAT deficiency | (Orphanet:650) |
Leber congenital amaurosis 10 | (OMIM:611755) |
Leber congenital amaurosis 11 | (OMIM:613837) |
Leber congenital amaurosis 14 | (OMIM:613341) |
Leber congenital amaurosis 15 | (OMIM:613843) |
Leber congenital amaurosis 16 | (OMIM:614186) |
Leber congenital amaurosis 5 | (OMIM:604537) |
Leber congenital amaurosis 7 | (OMIM:613829) |
Leber congenital amaurosis 8 | (OMIM:613835) |
Leber hereditary optic neuropathy | (Orphanet:104) |
Leber plus disease | (Orphanet:99718) |
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate | (Orphanet:314051) |
Ligneous conjunctivitis | (Orphanet:97231) |
MACULAR DEGENERATION, EARLY-ONSET | (OMIM:616118) |
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT | (OMIM:616170) |
MACULAR DYSTROPHY, VITELLIFORM, 1 | (OMIM:153840) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | (OMIM:613671) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 | (OMIM:614609) |
MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES | (OMIM:606772) |
MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENISSYNDROME | (OMIM:610156) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | (OMIM:616171) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 | (OMIM:616335) |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 | (OMIM:613703) |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 | (OMIM:615145) |
MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 3 | (OMIM:605431) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 | (OMIM:615249) |
MYOPIA 22, AUTOSOMAL DOMINANT | (OMIM:615420) |
MYOPIA 23, AUTOSOMAL RECESSIVE | (OMIM:615431) |
Marshall syndrome | (Orphanet:560) |
Maternally-inherited diabetes and deafness | (Orphanet:225) |
Metaphyseal dysostosis - intellectual deficit - conductive deafness | (Orphanet:2502) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Methylmalonic acidemia with homocystinuria, type cblJ | (Orphanet:369955) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Microcornea - glaucoma - absent frontal sinuses | (Orphanet:2536) |
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen | (Orphanet:251279) |
Microphthalmia with linear skin defects syndrome | (Orphanet:2556) |
Microspherophakia - metaphyseal dysplasia | (Orphanet:2551) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mohr-Tranebjaerg syndrome | (Orphanet:52368) |
Multiple sulfatase deficiency | (Orphanet:585) |
Muscle-eye-brain disease | (Orphanet:588) |
N syndrome | (Orphanet:2608) |
NANOPHTHALMOS 4 | (OMIM:615972) |
NEWFOUNDLAND ROD-CONE DYSTROPHY | (OMIM:607476) |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E | (OMIM:614565) |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | (OMIM:300071) |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B | (OMIM:610427) |
NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT | (OMIM:164100) |
Neurofibromatosis type 1 | (Orphanet:636) |
Neurofibromatosis type 2 | (Orphanet:637) |
OPTIC ATROPHY 1 | (OMIM:165500) |
OPTIC ATROPHY 8 | (OMIM:616289) |
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE | (OMIM:258650) |
Ocular albinism | (Orphanet:284804) |
Ocular albinism with congenital sensorineural deafness | (Orphanet:352740) |
Ocular albinism with late-onset sensorineural deafness | (Orphanet:1000) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Oculocutaneous albinism | (Orphanet:55) |
Oculocutaneous albinism type 1 | (Orphanet:352731) |
Oculocutaneous albinism type 1A | (Orphanet:79431) |
Oculocutaneous albinism type 1B | (Orphanet:79434) |
Oculocutaneous albinism type 2 | (Orphanet:79432) |
Oculocutaneous albinism type 4 | (Orphanet:79435) |
Oculocutaneous albinism type 6 | (Orphanet:370097) |
Ornithine transcarbamylase deficiency | (Orphanet:664) |
PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX | (OMIM:260480) |
PERIPHERAL CONE DYSTROPHY | (OMIM:609021) |
PEROXISOME BIOGENESIS DISORDER 4B | (OMIM:614863) |
PEROXISOME BIOGENESIS DISORDER 5B | (OMIM:614867) |
PEROXISOME BIOGENESIS DISORDER 6B | (OMIM:614871) |
PEROXISOME BIOGENESIS DISORDER 7B | (OMIM:614873) |
PEROXISOME BIOGENESIS DISORDER 8B | (OMIM:614877) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C | (OMIM:616081) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2C | (OMIM:612390) |
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED | (OMIM:177850) |
Pantothenate kinase-associated neurodegeneration | (Orphanet:157850) |
Papilloma of choroid plexus | (Orphanet:2807) |
Pelizaeus-Merzbacher disease | (Orphanet:702) |
Pelizaeus-Merzbacher-like disease | (Orphanet:280270) |
Pelizaeus-Merzbacher-like due to AIMP1 mutation | (Orphanet:280293) |
Perrault Syndrome 1 | (OMIM:233400) |
Primary hyperoxaluria type 1 | (Orphanet:93598) |
Progressive bifocal chorioretinal atrophy | (Orphanet:75373) |
Progressive cone dystrophy | (Orphanet:1871) |
Progressive retinal dystrophy due to retinol transport defect | (Orphanet:352718) |
Pseudoxanthoma elasticum | (Orphanet:758) |
Pyruvate dehydrogenase E3 deficiency | (Orphanet:2394) |
Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
RETINAL CONE DYSTROPHY 4 | (OMIM:610478) |
RETINAL DYSTROPHY AND OBESITY | (OMIM:616188) |
RETINITIS PIGMENTOSA 19 | (OMIM:601718) |
RETINITIS PIGMENTOSA 20 | (OMIM:613794) |
RETINITIS PIGMENTOSA 26 | (OMIM:608380) |
RETINITIS PIGMENTOSA 27 | (OMIM:613750) |
RETINITIS PIGMENTOSA 30 | (OMIM:607921) |
RETINITIS PIGMENTOSA 33 | (OMIM:610359) |
RETINITIS PIGMENTOSA 39 | (OMIM:613809) |
RETINITIS PIGMENTOSA 43 | (OMIM:613810) |
RETINITIS PIGMENTOSA 44 | (OMIM:613769) |
RETINITIS PIGMENTOSA 46 | (OMIM:612572) |
RETINITIS PIGMENTOSA 47 | (OMIM:613758) |
RETINITIS PIGMENTOSA 48 | (OMIM:613827) |
RETINITIS PIGMENTOSA 51 | (OMIM:613464) |
RETINITIS PIGMENTOSA 54 | (OMIM:613428) |
RETINITIS PIGMENTOSA 56 | (OMIM:613581) |
RETINITIS PIGMENTOSA 60 | (OMIM:613983) |
RETINITIS PIGMENTOSA 61 | (OMIM:614180) |
RETINITIS PIGMENTOSA 66 | (OMIM:615233) |
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION | (OMIM:268050) |
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA | (OMIM:610319) |
Retinal degeneration - nanophthalmos - glaucoma | (Orphanet:1574) |
Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications | (Orphanet:3018) |
Retinal vasculopathy and cerebral leukodystrophy | (Orphanet:247691) |
Retinitis pigmentosa | (Orphanet:791) |
Retinohepatoendocrinologic syndrome | (Orphanet:3087) |
Retinopathy of prematurity | (Orphanet:90050) |
STARGARDT DISEASE 3 | (OMIM:600110) |
Sanfilippo syndrome type D | (Orphanet:79272) |
Sarcoidosis | (Orphanet:797) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Schnyder corneal dystrophy | (Orphanet:98967) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Senior-Loken syndrome | (Orphanet:3156) |
Senior-Loken syndrome 6 | (OMIM:610189) |
Senior-Loken syndrome 8 | (OMIM:616307) |
Severe X-linked intellectual deficit, Gustavson type | (Orphanet:3078) |
Severe generalized recessive dystrophic epidermolysis bullosa | (Orphanet:79408) |
Sialidosis type 1 | (Orphanet:812) |
Spastic paraparesis - deafness | (Orphanet:2815) |
Spinocerebellar ataxia type 25 | (Orphanet:101111) |
Tangier disease | (Orphanet:31150) |
Tay-Sachs disease | (Orphanet:845) |
Temperature-sensitive oculocutaneous albinism type 1 | (Orphanet:352737) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Trichomegaly - retina pigmentary degeneration - dwarfism | (Orphanet:3363) |
Triple A syndrome | (Orphanet:869) |
Tyrosinemia type 2 | (Orphanet:28378) |
USHER SYNDROME, TYPE IIIB | (OMIM:614504) |
Van den Bosch syndrome | (Orphanet:3417) |
Vogt-Koyanagi-Harada disease | (Orphanet:3437) |
Von Hippel-Lindau disease | (Orphanet:892) |
Williams syndrome | (Orphanet:904) |
Wolfram syndrome 1 | (OMIM:222300) |
Wolfram syndrome 2 | (OMIM:604928) |
Wolfram-like syndrome | (ORPHA:411590) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked intellectual disability-retinitis pigmentosa syndrome | (Orphanet:85332) |
X-linked recessive ocular albinism | (Orphanet:54) |
X-linked spastic paraplegia type 16 | (Orphanet:100997) |
XFE PROGEROID SYNDROME | (OMIM:610965) |
[DEL] COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 | (OMIM:616198) |
[DEL] PSEUDOXANTHOMA ELASTICUM | (OMIM:264800) |