{"Name":"Persistent placoid maculopathy","DiseaseID__c":"GARD:0019369","id":19369,"encodedName":"persistent-placoid-maculopathy","IsDeleted":false,"Disease_Name_Full__c":"Persistent placoid maculopathy","Xref_IDs__c":"719297006; C4304823; MEDGEN:930492; MONDO:0019973; ORPHA:97341","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019973","Disease_Description__c":"Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.","GARD_Name__c":"Persistent placoid maculopathy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:97341","Curated_Disease_Description__c":"Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, patients with persistent placoid maculopathy generally have good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:97341","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019973","ORPHANET_ID__c":"ORPHA:97341","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Maculopatía placoidea persistente","Spanish_Description_Source__c":"ORPHA:97341","Spanish_Description__c":"Es un trastorno caracterizado por lesiones blancas similares a placas que afectan a la mácula respetando las áreas peripapilares de ambos ojos. Se ha descrito en cinco pacientes. En contraste con los pacientes con coroiditis serpiginosa macular, que presentan lesiones similares, los cinco pacientes con maculopatía placoide persistente descritos hasta la fecha tenían buena agudeza visual hasta el inicio de la neovascularización coroidea (NVC) o del moteado pigmentario. Las lesiones maculares desaparecen después de varios meses o años, pero las anomalías vasculares persisten y conducen a una pérdida de la visión central. 01/09/2007","Spanish_Disease_Name__c":"maculopatía placoidea persistente","Spanish_GARD_Synonym__c":null,"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":"Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, patients with persistent placoid maculopathy generally have good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.","Curated_Disease_Description_Source__c":"ORPHA:97341","Name":"Persistent placoid maculopathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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:97341"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:97341"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304823","Source__c":"C4304823","Xref__c":"C4304823"},{"URL__c":"https://www.orpha.net/en/disease/detail/97341","Source__c":"C4304823; MONDO:0019973; ORPHA:97341","Xref__c":"ORPHA:97341"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930492","Source__c":"C4304823","Xref__c":"MEDGEN:930492"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719297006","Source__c":"C4304823; MONDO:0019973","Xref__c":"719297006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019973","Source__c":"GARD:0019369","Xref__c":"MONDO:0019973"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:97341","HPO_Frequency__c":"Occasional (5-29%)","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:97341","HPO_Frequency__c":"Occasional (5-29%)","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:97341","HPO_Frequency__c":"Always (100%)","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:97341","HPO_Frequency__c":"Very frequent (80-99%)","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:97341","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:97341","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A scintillating scotoma is a common visual aura that can precede a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010822","HPO_Name__c":"Scintillating scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97341","HPO_Frequency__c":"Always (100%)","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:97341","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":[""]}