{"Name":"Doyne honeycomb retinal dystrophy","DiseaseID__c":"GARD:0001912","id":1912,"encodedName":"doyne-honeycomb-retinal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Doyne honeycomb retinal dystrophy","Xref_IDs__c":"193411004; C1832174; DOID:0060745; MEDGEN:321900; MONDO:0007471; OMIM:126600; ORPHA:75376","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007471","Disease_Description__c":"Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.","GARD_Name__c":"Doyne honeycomb retinal dystrophy","GARD_Synonym__c":"dhrd; dominant drusen; dominant radial drusen; doyne honeycomb degeneration of retina; doyne's honeycomb choroiditis; drusen, radial, autosomal dominant; familial drusen; hereditary dominant drusen retinal dystrophy; malattia leventinese","Curated_Disease_Description_Source__c":"GARD:0001912","Curated_Disease_Description__c":"Familial drusen is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. The degree of vision loss also varies. Familial drusen is usually caused by genetic changes in the EFEMP1 gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:75376","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007471","ORPHANET_ID__c":"ORPHA:75376","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Drusen familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"drusen familiar","Spanish_GARD_Synonym__c":"dhrd; distrofia retiniana en panal de doyne; drusen dominante; drusen radial dominante; malattia leventinese","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":"Familial drusen is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. The degree of vision loss also varies. Familial drusen is usually caused by genetic changes in the EFEMP1 gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0001912","GARD_Synonym__c":"dhrd; dominant drusen; dominant radial drusen; doyne honeycomb degeneration of retina; doyne's honeycomb choroiditis; drusen, radial, autosomal dominant; familial drusen; hereditary dominant drusen retinal dystrophy; malattia leventinese","Name":"Doyne honeycomb retinal dystrophy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Macular Disease Society","Website__c":"https://www.macularsociety.org/"},{"Account_Name__c":"American Macular Degeneration Foundation","Website__c":"https://www.macular.org/"},{"Account_Name__c":"Retina International","Website__c":"https://retina-international.org/"},{"Account_Name__c":"Macular Degeneration Foundation","Website__c":"https://eyesight.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:75376"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832174"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1852020"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001912","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832174","Source__c":"C1832174","Xref__c":"C1832174"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=193411004","Source__c":"C1832174; MONDO:0007471","Xref__c":"193411004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060745","Source__c":"MONDO:0007471","Xref__c":"DOID:0060745"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=321900","Source__c":"C1832174","Xref__c":"MEDGEN:321900"},{"URL__c":"https://www.omim.org/entry/126600","Source__c":"C1832174; MONDO:0007471; ORPHA:75376","Xref__c":"OMIM:126600"},{"URL__c":"https://www.orpha.net/en/disease/detail/75376","Source__c":"C1832174; MONDO:0007471; ORPHA:75376","Xref__c":"ORPHA:75376"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007471","Source__c":"GARD:0001912","Xref__c":"MONDO:0007471"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EFEMP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:75376","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:75376","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007754","HPO_Name__c":"Macular dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","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) and neurosensory retinal cells in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007401","HPO_Name__c":"Macular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","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:75376","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030629","HPO_Name__c":"Perifoveal ring of hyperautofluorescence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased amount of pigmentation in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011509","HPO_Name__c":"Macular hyperpigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011506","HPO_Synonym__c":"Choroidal neovascular membrane","HPO_Name__c":"Choroidal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012508","HPO_Name__c":"Metamorphopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030631","HPO_Name__c":"Hyperautofluorescent macular lesion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007950","HPO_Name__c":"Peripapillary chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","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:75376","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of retinal detachment such that fluid is present in the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. It is not associated with a full-thickness break nor a tractional component. Due to breakdown of outer blood-retina barrier or increased exudation from abnormal vasculature or defective outflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012231","HPO_Synonym__c":"Exudative retinal detachment; Non-rhegmatogenous retinal detachment","HPO_Name__c":"Serous retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Drusen localted in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030499","HPO_Name__c":"Macular drusen","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fluid accumulating between the neuroretina and retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031526","HPO_Synonym__c":"Sub-retinal fluid","HPO_Name__c":"Subretinal fluid","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A type of white and/or yellow lesion located anywhere within the macula. These lesions can be flat or raised and can vary in size from very small to bigger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030500","HPO_Synonym__c":"Yellow/white lesion of the macula","HPO_Name__c":"Yellow/white macular lesion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding occurring within the macula lutea of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025574","HPO_Name__c":"Macular hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030632","HPO_Synonym__c":"Hypo-autofluorescent macular lesion","HPO_Name__c":"Hypoautofluorescent macular lesion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A pattern of peripheral netlike retinal pigmentation that forms a polygonal arrangement of hyperpigmented lines forming geometric patterns in the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007937","HPO_Synonym__c":"Fishnet retinal pigmentation; Honeycomb retinal degeneration; Reticular degeneration of the RPE","HPO_Name__c":"Reticular pigmentary degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75376","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["dhrd"," dominant drusen"," dominant radial drusen"," doyne honeycomb degeneration of retina"," doyne's honeycomb choroiditis"," drusen, radial, autosomal dominant"," familial drusen"," hereditary dominant drusen retinal dystrophy"," malattia leventinese"]}