{"Name":"Bietti crystalline corneoretinal dystrophy","DiseaseID__c":"GARD:0010050","id":10050,"encodedName":"bietti-crystalline-corneoretinal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Bietti crystalline corneoretinal dystrophy","Xref_IDs__c":"312927001; C179299; C1859486; C535440; DOID:0050664; MEDGEN:347895; MONDO:0008865; OMIM:210370; ORPHA:41751","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":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008865","Disease_Description__c":"A rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.","GARD_Name__c":"Bietti crystalline corneoretinal dystrophy","GARD_Synonym__c":"bcd; bietti crystalline dystrophy; bietti crystalline retinopathy; bietti tapetoretinal degeneration with marginal corneal dystrophy; bietti's crystalline dystrophy; bietti's crystalline retinopathy","Curated_Disease_Description_Source__c":"GARD:0010050","Curated_Disease_Description__c":"Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss. People with Bietti crystalline dystrophy typically begin noticing vision problems in their teens or twenties. They experience a loss of sharp vision (reduction in visual acuity) and difficulty seeing in dim light (night blindness). They usually lose areas of vision (visual field loss), most often side (peripheral) vision. Color vision may also be impaired. The vision problems may worsen at different rates in each eye, and the severity and progression of symptoms varies widely among affected individuals, even within the same family. However, most people with this condition become legally blind by their forties or fifties. Most affected individuals retain some degree of vision, usually in the center of the visual field, although it is typically blurry and cannot be corrected by glasses or contact lenses. Vision impairment that cannot be improved with corrective lenses is called low vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:41751","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008865","ORPHANET_ID__c":"ORPHA:41751","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia cristalina de bietti","Spanish_Description_Source__c":"ORPHA:41751","Spanish_Description__c":"La distrofia cristalina de Bietti (BCD) es una enfermedad degenerativa tapetorretiniana progresiva autosómica recesiva poco frecuente, que se presenta en la tercera década de vida, y que se caracteriza por pequeños depósitos cristalinos brillantes en la retina posterior y en el limbo corneal además de esclerosis de los vasos coroideos. Se manifiesta como ceguera nocturna, disminución de la visión, escotoma paracentral y, en las últimas etapas de la enfermedad, ceguera legal.","Spanish_Disease_Name__c":"distrofia cristalina de bietti","Spanish_GARD_Synonym__c":"bcd; distrofia corneo-retiniana cristalina de bietti; retinopatía cristalina de bietti","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":"Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss. People with Bietti crystalline dystrophy typically begin noticing vision problems in their teens or twenties. They experience a loss of sharp vision (reduction in visual acuity) and difficulty seeing in dim light (night blindness). They usually lose areas of vision (visual field loss), most often side (peripheral) vision. Color vision may also be impaired. The vision problems may worsen at different rates in each eye, and the severity and progression of symptoms varies widely among affected individuals, even within the same family. However, most people with this condition become legally blind by their forties or fifties. Most affected individuals retain some degree of vision, usually in the center of the visual field, although it is typically blurry and cannot be corrected by glasses or contact lenses. Vision impairment that cannot be improved with corrective lenses is called low vision.","Curated_Disease_Description_Source__c":"GARD:0010050","GARD_Synonym__c":"bcd; bietti crystalline dystrophy; bietti crystalline retinopathy; bietti tapetoretinal degeneration with marginal corneal dystrophy; bietti's crystalline dystrophy; bietti's crystalline retinopathy","Name":"Bietti crystalline corneoretinal dystrophy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Invincible Vision","Website__c":"https://invinciblevision.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:41751"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:41751"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1859486"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010050","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK91457","Source__c":"Gene Review","Xref__c":"NBK91457"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347895","Source__c":"C1859486","Xref__c":"MEDGEN:347895"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=312927001","Source__c":"C1859486; MONDO:0008865","Xref__c":"312927001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535440","Source__c":"MONDO:0008865","Xref__c":"C535440"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050664","Source__c":"MONDO:0008865","Xref__c":"DOID:0050664"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859486","Source__c":"C1859486","Xref__c":"C1859486"},{"URL__c":"https://www.orpha.net/en/disease/detail/41751","Source__c":"C1859486; MONDO:0008865; ORPHA:41751","Xref__c":"ORPHA:41751"},{"URL__c":"https://www.omim.org/entry/210370","Source__c":"C1859486; MONDO:0008865; ORPHA:41751","Xref__c":"OMIM:210370"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C179299","Source__c":"C1859486; MONDO:0008865","Xref__c":"C179299"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008865","Source__c":"GARD:0010050","Xref__c":"MONDO:0008865"},{"URL__c":"https://medlineplus.gov/genetics/condition/bietti-crystalline-dystrophy","Source__c":"GARD:0010050","Xref__c":"https://medlineplus.gov/genetics/condition/bietti-crystalline-dystrophy"},{"URL__c":"https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/biettis-crystalline-dystrophy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYP4V2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cyp4v2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:41751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001133","HPO_Synonym__c":"Concentric narrowing of visual field; Constricted visual field; Constricted visual fields; Limited peripheral vision; Reduced peripheral vision; Visual field constriction","HPO_Name__c":"Constriction of peripheral visual field","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased amplitude of eletrical response upon electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000654","HPO_Synonym__c":"Decreased amplitudes on flash visual electroretinogram; Decreased electroretinogram; Decreased electroretinogram amplitude; Decreased electroretinogram response; Decreased ERG amplitude; Flattened or absent electroretinogram; Reduced electroretinogram; Reduced ERG; Reduced or abolished electroretinogram","HPO_Name__c":"Decreased light- and dark-adapted electroretinogram amplitude","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030329","HPO_Synonym__c":"Retinal thinning","HPO_Name__c":"Retinal thinning on OCT","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:41751","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"}},{"Provided_By__c":"ORPHA:41751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the capillary lamina of choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030491","HPO_Name__c":"Choriocapillaris atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001141","HPO_Synonym__c":"Marked vision impairment; Severe reduction in visual acuity; Severe vision loss; Severe visual impairment; Severe visual loss; Severely impaired vision","HPO_Name__c":"Severely reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41751","HPO_Frequency__c":"Occasional (5-29%)","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:41751","HPO_Frequency__c":"Occasional (5-29%)","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:41751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deposits accumulating between the outer retina and the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031528","HPO_Name__c":"Subretinal deposits","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011505","HPO_Synonym__c":"Cystoid macular edema","HPO_Name__c":"Cystoid macular edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41751","HPO_Frequency__c":"Frequent (30-79%)","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:41751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001129","HPO_Synonym__c":"Large central loss of field of vision","HPO_Name__c":"Large central visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007760","HPO_Name__c":"Crystalline corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41751","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:41751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030528","HPO_Name__c":"Paracentral scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41751","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:41751","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["bcd"," bietti crystalline dystrophy"," bietti crystalline retinopathy"," bietti tapetoretinal degeneration with marginal corneal dystrophy"," bietti's crystalline dystrophy"," bietti's crystalline retinopathy"]}