{"Name":"Achromatopsia","DiseaseID__c":"GARD:0015015","id":15015,"encodedName":"achromatopsia","IsDeleted":false,"Disease_Name_Full__c":"Achromatopsia","Xref_IDs__c":"102450007; 56852002; C0152200; C84528; DOID:13911; H53.51; HP:0011516; MEDGEN:57751; MONDO:0018852; NBK1418; ORPHA:49382","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018852","Disease_Description__c":"A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.","GARD_Name__c":"Achromatopsia","GARD_Synonym__c":"achm; achromatism; complete or incomplete color blindness; complete or incomplete colour blindness; monochromatism; pingelapese blindness; rod monochromacy; rod monochromatism; total color blindness; total colour blindness","Curated_Disease_Description_Source__c":"MONDO:0018852","Curated_Disease_Description__c":"Achromatopsia is a disorder that causes problems with color vision. The retina, which is the light-sensitive tissue at the back of the eye, contains two types of light receptor cells called rods and cones. Rods provide vision in low light (night vision), while cones provide vision in bright light (daytime vision). Cones are also responsible for color vision.  There are two types of achromatopsia: complete and incomplete. People with complete achromatopsia cannot perceive any color; they see only black, white, and shades of gray. People with incomplete achromatopsia can see some color. People with achromatopsia may have additional problems with their vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals may also have a small visual blind spot (scotoma), farsightedness (hyperopia), or nearsightedness (myopia).  Achromatopsia is different from the more common forms of color vision deficiency (also called color blindness), in which people can perceive color but have difficulty distinguishing between certain colors, such as red and green. One form of color blindness, called blue cone monochromacy (BCM), is sometimes considered a form of incomplete achromatopsia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:49382","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018852","ORPHANET_ID__c":"ORPHA:49382","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acromatopsia","Spanish_Description_Source__c":"ORPHA:49382","Spanish_Description__c":"Es un trastorno retiniano autosómico recesivo poco frecuente caracterizado por daltonismo, nistagmo, fotofobia y agudeza visual seriamente reducida a causa de la ausencia o la deficiencia en el funcionamiento de los conos.","Spanish_Disease_Name__c":"acromatopsia","Spanish_GARD_Synonym__c":"achm; ceguera al color completa o incompleta; ceguera para los colores de pingelap; ceguera total al color; monocromacia de bastones; monocromatismo de bastones","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Achromatopsia is a disorder that causes problems with color vision. The retina, which is the light-sensitive tissue at the back of the eye, contains two types of light receptor cells called rods and cones. Rods provide vision in low light (night vision), while cones provide vision in bright light (daytime vision). Cones are also responsible for color vision.  There are two types of achromatopsia: complete and incomplete. People with complete achromatopsia cannot perceive any color; they see only black, white, and shades of gray. People with incomplete achromatopsia can see some color. People with achromatopsia may have additional problems with their vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals may also have a small visual blind spot (scotoma), farsightedness (hyperopia), or nearsightedness (myopia).  Achromatopsia is different from the more common forms of color vision deficiency (also called color blindness), in which people can perceive color but have difficulty distinguishing between certain colors, such as red and green. One form of color blindness, called blue cone monochromacy (BCM), is sometimes considered a form of incomplete achromatopsia.","Curated_Disease_Description_Source__c":"MONDO:0018852","GARD_Synonym__c":"achm; achromatism; complete or incomplete color blindness; complete or incomplete colour blindness; monochromatism; pingelapese blindness; rod monochromacy; rod monochromatism; total color blindness; total colour blindness","Name":"Achromatopsia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"},{"Account_Name__c":"BCM Families Foundation","Website__c":"https://www.blueconemonochromacy.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:49382"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:49382"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1418","Source__c":"Gene Review","Xref__c":"NBK1418"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84528","Source__c":"C0152200; MONDO:0018852","Xref__c":"C84528"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57751","Source__c":"C0152200","Xref__c":"MEDGEN:57751"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0152200","Source__c":"C0152200","Xref__c":"C0152200"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=102450007","Source__c":"MONDO:0018852","Xref__c":"102450007"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/H53.51","Source__c":"MONDO:0018852","Xref__c":"H53.51"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13911","Source__c":"MONDO:0018852","Xref__c":"DOID:13911"},{"URL__c":"https://www.orpha.net/en/disease/detail/49382","Source__c":"C0152200; MONDO:0018852; ORPHA:49382","Xref__c":"ORPHA:49382"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=56852002","Source__c":"C0152200","Xref__c":"56852002"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011516","Source__c":"C0152200","Xref__c":"HP:0011516"},{"URL__c":"https://medlineplus.gov/genetics/condition/achromatopsia","Source__c":"GARD:0015015","Xref__c":"https://medlineplus.gov/genetics/condition/achromatopsia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018852","Source__c":"GARD:0015015","Xref__c":"MONDO:0018852"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATF6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PDE6H","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pde6h","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CNGA3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cnga3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CNGB3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cngb3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GNAT2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gnat2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PDE6C","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pde6c","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030584","HPO_Name__c":"Color vision test abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007814","HPO_Synonym__c":"Focal hypopigmentation of the retinal pigment epithelium; Retinal pigment epithelium irregularity; RPE irregularity; RPE mottling; Salt and pepper retinal pigmentation; Salt and pepper retinopathy","HPO_Name__c":"Retinal pigment epithelial mottling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly in the ability to discriminate between or recognize colors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000551","HPO_Synonym__c":"Abnormal color vision; Abnormality of color vision; Disturbed color vision","HPO_Name__c":"Color vision defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An area of depressed vision located at the point of fixation and that interferes with central vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000603","HPO_Synonym__c":"Central blind spot; Central scotomata","HPO_Name__c":"Central scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the fovea centralis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007750","HPO_Synonym__c":"Foveal hypoplasia","HPO_Name__c":"Hypoplasia of the fovea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030620","HPO_Name__c":"Inner retinal layer loss on macular OCT","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030825","HPO_Synonym__c":"Foveal reflex absent; Loss of foveal reflex","HPO_Name__c":"Absent foveal reflex","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012043","HPO_Name__c":"Pendular nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Narrowing of the retinal blood vessels, both arterioles and venules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007843","HPO_Synonym__c":"Narrowing of blood vessels in back of eye","HPO_Name__c":"Attenuation of retinal blood vessels","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007695","HPO_Name__c":"Abnormal pupillary light reflex","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000539","HPO_Name__c":"Abnormality of refraction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007803","HPO_Synonym__c":"Complete achromatopsia","HPO_Name__c":"Monochromacy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007722","HPO_Name__c":"Retinal pigment epithelial atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001103","HPO_Synonym__c":"Abnormality of the macula; Macula abnormality; Macular abnormality","HPO_Name__c":"Abnormal macular morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025549","HPO_Synonym__c":"Eccentric fixation","HPO_Name__c":"Eccentric visual fixation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030465","HPO_Synonym__c":"Absent photopic (cone) responses on ERG; non-detectable photopic ERG","HPO_Name__c":"Undetectable light-adapted electroretinogram","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Neuro-Ophthalmology","Pediatrics"],"Account":["Retinal"]},"synonyms":["achm"," achromatism"," complete or incomplete color blindness"," complete or incomplete colour blindness"," monochromatism"," pingelapese blindness"," rod monochromacy"," rod monochromatism"," total color blindness"," total colour blindness"]}