Visual impairment

Symptom Information:

Symptom ID: HPO:0000505
Synonyms:
Decreased visual acuity [HPO:0000505]
Impaired vision [HPO:0000505]
Poor vision [HPO:0000505]
Poor visual acuity [HPO:0000505]
Reduced visual acuity [HPO:0000505]
Impaired vision [Orphanet:5540]
Visual impairment (disorder) [Orphanet:5540]
Abnormal vision (finding) [Orphanet:5540]
Reduced visual acuity (finding) [Orphanet:5540]
Reduced visual acuity [Orphanet:5540]
Visual impairment [Orphanet:5540]
Decreased visual acuity [OMIM:Decreased visual acuity]
Impaired vision [OMIM:Impaired vision]
Poor vision [OMIM:Poor vision]
Poor visual acuity [OMIM:Poor visual acuity]
Reduced visual acuity [OMIM:Reduced visual acuity]
Visual impairment [OMIM:Visual impairment]
Mild visual loss/impaired visual acuity [Orphanet:5540]
Visual acuity reduced [Orphanet:5540]
Visual acuity reduced [MedDRA:10047531]
Deterioration of visual acuity [MedDRA:10047531]
Low vision, both eyes [MedDRA:10047531]
Low vision, one eye [MedDRA:10047531]
Low vision, one eye, not otherwise specified [MedDRA:10047531]
Low visual acuity [MedDRA:10047531]
One eye: moderate vision impairment
other eye: near-normal vision [MedDRA:10047531]
One eye: moderate vision impairment
other eye: normal vision [MedDRA:10047531]
One eye: moderate vision impairment
other eye: vision not specified [MedDRA:10047531]
Partial sight [MedDRA:10047531]
Poor vision [MedDRA:10047531]
Twilight vision [MedDRA:10047531]
Vision decreased [MedDRA:10047531]
Visual activity decreased [MedDRA:10047531]
Visual acuity lost [MedDRA:10047531]
Visual acuity decreased [MedDRA:10047531]
Partial visual loss [MedDRA:10047531]
Visual impairment [MedDRA:10047571]
Abnormal retinal correspondence [MedDRA:10047571]
Abnormal vision [MedDRA:10047571]
Abnormal vision NOS [MedDRA:10047571]
After images [MedDRA:10047571]
Aphose [MedDRA:10047571]
Binocular vision disorder, unspecified [MedDRA:10047571]
Disorder sight [MedDRA:10047571]
Fusion with defective stereopsis [MedDRA:10047571]
Increasing visual impairment [MedDRA:10047571]
Near vision disturbance [MedDRA:10047571]
Other disorders of binocular vision [MedDRA:10047571]
Other specified visual disturbances [MedDRA:10047571]
Other visual distortions and entoptic phenomena [MedDRA:10047571]
Psychophysical visual disturbances [MedDRA:10047571]
Simultaneous visual perception without fusion [MedDRA:10047571]
Spots before eyes [MedDRA:10047571]
Subjective visual disturbance, unspecified [MedDRA:10047571]
Subjective visual disturbances [MedDRA:10047571]
Suppression of binocular vision [MedDRA:10047571]
Unspecified visual disturbance [MedDRA:10047571]
Vision abnormal [MedDRA:10047571]
Vision abnormal aggravated [MedDRA:10047571]
Vision abnormal NOS [MedDRA:10047571]
Vision abnormal NOS exacerbated [MedDRA:10047571]
Vision dim [MedDRA:10047571]
Visual distortions of shape and size [MedDRA:10047571]
Visual disturbance [MedDRA:10047571]
Visual disturbance NOS [MedDRA:10047571]
Visual disturbances [MedDRA:10047571]
Visual disturbances subjective [MedDRA:10047571]
Visual phenomena [MedDRA:10047571]
Bilateral abnormal vision [MedDRA:10047571]
Unilateral abnormal vision [MedDRA:10047571]
Dysopia [MedDRA:10047571]
Visual impairment transient [MedDRA:10047571]
Decreased vision [OMIM:Decreased vision]
Decreased visual acuity (in some patients) [OMIM:Decreased visual acuity (in some patients)]
Impaired vision (in some patients) [OMIM:Impaired vision (in some patients)]
Poor vision (1 patient) [OMIM:Poor vision (1 patient)]
Poor vision (1/4 patients) [OMIM:Poor vision (1/4 patients)]
Reduced visual acuity (less common) [OMIM:Reduced visual acuity (less common)]
Visual disturbances [OMIM:Visual disturbances]
Visual impairment (50-70% of patients) [OMIM:Visual impairment (50-70% of patients)]
Visual impairment (55%) [OMIM:Visual impairment (55%)]
Visual impairment (childhood-onset) [OMIM:Visual impairment (childhood-onset)]
Visual impairment (rare) [OMIM:Visual impairment (rare)]
Quality:
Cross references:
Orphanet:5540 "Mild visual loss/impaired visual acuity" [Orphanet:5540]
OMIM: "Decreased visual acuity" [OMIM:Decreased visual acuity]
OMIM: "Impaired vision" [OMIM:Impaired vision]
OMIM: "Poor vision" [OMIM:Poor vision]
OMIM: "Poor visual acuity" [OMIM:Poor visual acuity]
OMIM: "Reduced visual acuity" [OMIM:Reduced visual acuity]
OMIM: "Visual impairment" [OMIM:Visual impairment]
OMIM: "Decreased vision" [OMIM:Decreased vision]
OMIM: "Decreased visual acuity (in some patients)" [OMIM:Decreased visual acuity (in some patients)]
OMIM: "Impaired vision (in some patients)" [OMIM:Impaired vision (in some patients)]
OMIM: "Poor vision (1 patient)" [OMIM:Poor vision (1 patient)]
OMIM: "Poor vision (1/4 patients)" [OMIM:Poor vision (1/4 patients)]
OMIM: "Reduced visual acuity (less common)" [OMIM:Reduced visual acuity (less common)]
OMIM: "Visual disturbances" [OMIM:Visual disturbances]
OMIM: "Visual impairment (50-70% of patients)" [OMIM:Visual impairment (50-70% of patients)]
OMIM: "Visual impairment (55%)" [OMIM:Visual impairment (55%)]
OMIM: "Visual impairment (childhood-onset)" [OMIM:Visual impairment (childhood-onset)]
OMIM: "Visual impairment (rare)" [OMIM:Visual impairment (rare)]
UMLS:C0234632 "Reduced visual acuity" [Orphanet:5540]
UMLS:C0042798 "Visual impairment" [Orphanet:5540]
Is a (Direct Parents):
HPO         Moderate visual impairment
HPO         Abnormality of vision
MedDRA Partial vision loss
MedDRA Visual disorders NEC
Orphanet Abnormality of the eye
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)
       Partial vision loss(MedDRA:10034069)
          Visual impairment(HPO:0000505)
       Visual disorders NEC(MedDRA:10047541)
          Visual impairment(HPO:0000505)
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)