{"Name":"Severe early-childhood-onset retinal dystrophy","DiseaseID__c":"GARD:0021565","id":21565,"encodedName":"severe-early-childhood-onset-retinal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Severe early-childhood-onset retinal dystrophy","Xref_IDs__c":"716663009; C1855465; MEDGEN:383691; MONDO:0009549; ORPHA:364055","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009549","Disease_Description__c":"Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.","GARD_Name__c":"Severe early-childhood-onset retinal dystrophy","GARD_Synonym__c":"abca4-related stargardt disease 1; cngb3-related stargardt disease 1; early-onset severe retinal dystrophy; eosrd; juvenile onset macular degeneration; macular dystrophy with flecks, type 1; secord; stargardt disease 1; stargardt disease type 1; stargardt macular dystrophy; stgd; stgd1","Curated_Disease_Description_Source__c":"MONDO:0009549","Curated_Disease_Description__c":"Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:364055","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009549","ORPHANET_ID__c":"ORPHA:364055","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia retiniana grave de inicio en la infancia temprana","Spanish_Description_Source__c":"ORPHA:364055","Spanish_Description__c":"La distrofia retiniana grave de inicio en la infancia temprana (SECORD) es una distrofia retiniana hereditaria caracterizada por ceguera nocturna grave congénita, distrofia retiniana progresiva y nistagmo. La agudeza visual corregida máxima puede llegar a 0,3 en la primera década de la vida y puede permanecer hasta bien entrada la segunda década de la vida. La ceguera es completa, a menudo, a la edad de 30 años.","Spanish_Disease_Name__c":"distrofia retiniana grave de inicio en la infancia temprana","Spanish_GARD_Synonym__c":"distrofia retiniana grave de inicio precoz; eosrd; secord","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":"Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.","Curated_Disease_Description_Source__c":"MONDO:0009549","GARD_Synonym__c":"abca4-related stargardt disease 1; cngb3-related stargardt disease 1; early-onset severe retinal dystrophy; eosrd; juvenile onset macular degeneration; macular dystrophy with flecks, type 1; secord; stargardt disease 1; stargardt disease type 1; stargardt macular dystrophy; stgd; stgd1","Name":"Severe early-childhood-onset retinal dystrophy","estimateUsa":""}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:364055"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:364055"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716663009","Source__c":"MONDO:0009549","Xref__c":"716663009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=383691","Source__c":"C1855465","Xref__c":"MEDGEN:383691"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855465","Source__c":"C1855465","Xref__c":"C1855465"},{"URL__c":"https://www.orpha.net/en/disease/detail/364055","Source__c":"C1855465; MONDO:0009549","Xref__c":"ORPHA:364055"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009549","Source__c":"GARD:0021565","Xref__c":"MONDO:0009549"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCA4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abca4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001116","HPO_Synonym__c":"Coloboma of the macula; Macular coloboma","HPO_Name__c":"Macular pseudocoloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A failure to meet one or more age-related milestones of social behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012434","HPO_Synonym__c":"Delayed milestone development; Delayed social development","HPO_Name__c":"Delayed early-childhood social milestone development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000546","HPO_Synonym__c":"Retina degeneration","HPO_Name__c":"Retinal degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of retinal detachment associated with a full-thickness defect in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012230","HPO_Name__c":"Rhegmatogenous retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Frequent (30-79%)","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:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes deviated outward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000577","HPO_Synonym__c":"Outward facing eye ball","HPO_Name__c":"Exotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012426","HPO_Synonym__c":"Optic nerve head drusen","HPO_Name__c":"Optic disc drusen","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","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:364055","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","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:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Frequent (30-79%)","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:364055","HPO_Frequency__c":"Frequent (30-79%)","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:364055","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000543","HPO_Synonym__c":"Pale optic disc","HPO_Name__c":"Optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Frequent (30-79%)","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:364055","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007737","HPO_Synonym__c":"Bone corpuscle fundus pigmentation; Bone spicule pigmentation of the retina; Fundus with peripheral bony spicules; Retinal bone corpuscle pigmentation; Retinal pigmented bone spicules","HPO_Name__c":"Spicular pigmentation of the retina","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007793","HPO_Synonym__c":"Macular retinal pigment epithelial mottling","HPO_Name__c":"Granular macular appearance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of any response to stimulation upon electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000550","HPO_Synonym__c":"Abolished electroretinogram; Absent electroretinogram; Extinction of electroretinogram; Extinguished electroretinogram; No light-evoked response on electroretinogram; Undetectable ERG","HPO_Name__c":"Undetectable electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011488","HPO_Synonym__c":"Abnormality of corneal endothelium","HPO_Name__c":"Abnormal corneal endothelium morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007787","HPO_Synonym__c":"Posterior subcapsular opacities of the lens","HPO_Name__c":"Posterior subcapsular cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A mild delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011342","HPO_Synonym__c":"Global developmental delay, mild","HPO_Name__c":"Mild global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007994","HPO_Synonym__c":"Kalnienk vision; Loss of peripheral vision","HPO_Name__c":"Peripheral visual field loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Adhesions between the iris and the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011484","HPO_Synonym__c":"Iridolenticular adhesions; Posterior synechiae","HPO_Name__c":"Posterior synechiae of the anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Occasional (5-29%)","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:364055","HPO_Frequency__c":"Frequent (30-79%)","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:364055","HPO_Frequency__c":"Occasional (5-29%)","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:364055","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting) of the choroid and retinal layers of the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000533","HPO_Synonym__c":"Chorioretinal degeneration; Chorioretinal thinning","HPO_Name__c":"Chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364055","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["abca4-related stargardt disease 1"," cngb3-related stargardt disease 1"," early-onset severe retinal dystrophy"," eosrd"," juvenile onset macular degeneration"," macular dystrophy with flecks, type 1"," secord"," stargardt disease 1"," stargardt disease type 1"," stargardt macular dystrophy"," stgd"," stgd1"]}