{"Name":"Juvenile retinoschisis","DiseaseID__c":"GARD:0004690","id":4690,"encodedName":"juvenile-retinoschisis","IsDeleted":false,"Disease_Name_Full__c":"Juvenile retinoschisis","Xref_IDs__c":"86923008; C3714753; C75483; DOID:0060763; MEDGEN:811458; MONDO:0010725; OMIM:312700; ORPHA:792","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0010725","Disease_Description__c":"A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages.","GARD_Name__c":"Juvenile retinoschisis","GARD_Synonym__c":"juvenile x-linked retinoschisis; retinoschisis, x-linked; retinoschisis, x-linked recessive; rs1; x-linked juvenile retinoschisis; x-linked juvenile retinoschisis type 1; x-linked retinoschisis; xlrs","Curated_Disease_Description_Source__c":"GARD:0004690","Curated_Disease_Description__c":"X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis. X-linked juvenile retinoschisis is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) begin in infancy. Other early features of X-linked juvenile retinoschisis include eyes that do not look in the same direction (strabismus) and farsightedness (hyperopia). Visual acuity often declines in childhood and adolescence but then stabilizes throughout adulthood until a significant decline in visual acuity typically occurs in a mans fifties or sixties. Sometimes, severe complications develop, such as separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:792","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010725","ORPHANET_ID__c":"ORPHA:792","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Retinosquisis ligada al cromosoma x","Spanish_Description_Source__c":"ORPHA:792","Spanish_Description__c":"Es un trastorno poco frecuente que afecta a múltiples estructuras oculares caracterizado por una disminución de la agudeza visual en varones debido a una degeneración macular juvenil. En estadios avanzados se observa características clínicas como hemorragia vítrea, desprendimiento de retina y glaucoma neovascular.","Spanish_Disease_Name__c":"retinosquisis ligada al cromosoma x","Spanish_GARD_Synonym__c":"retinosquisis juvenil ligada al cromosoma x; xlrs","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":"X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis. X-linked juvenile retinoschisis is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) begin in infancy. Other early features of X-linked juvenile retinoschisis include eyes that do not look in the same direction (strabismus) and farsightedness (hyperopia). Visual acuity often declines in childhood and adolescence but then stabilizes throughout adulthood until a significant decline in visual acuity typically occurs in a mans fifties or sixties. Sometimes, severe complications develop, such as separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness.","Curated_Disease_Description_Source__c":"GARD:0004690","GARD_Synonym__c":"juvenile x-linked retinoschisis; retinoschisis, x-linked; retinoschisis, x-linked recessive; rs1; x-linked juvenile retinoschisis; x-linked juvenile retinoschisis type 1; x-linked retinoschisis; xlrs","Name":"Juvenile retinoschisis","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":"Pediatric Retinal Research Foundation","Website__c":"https://www.pediatricrrf.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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:792"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:792"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:792"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:792"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004690","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1222","Source__c":"Gene Review","Xref__c":"NBK1222"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=811458","Source__c":"C3714753","Xref__c":"MEDGEN:811458"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3714753","Source__c":"C3714753","Xref__c":"C3714753"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C75483","Source__c":"MONDO:0010725","Xref__c":"C75483"},{"URL__c":"https://www.omim.org/entry/312700","Source__c":"C3714753; MONDO:0010725; ORPHA:792","Xref__c":"OMIM:312700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=86923008","Source__c":"MONDO:0010725","Xref__c":"86923008"},{"URL__c":"https://www.orpha.net/en/disease/detail/792","Source__c":"C3714753; MONDO:0010725","Xref__c":"ORPHA:792"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060763","Source__c":"MONDO:0010725","Xref__c":"DOID:0060763"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010725","Source__c":"GARD:0004690","Xref__c":"MONDO:0010725"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rs1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:792","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in voluntary or involuntary eye movements or their control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000496","HPO_Synonym__c":"Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities","HPO_Name__c":"Abnormality of eye movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:792","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000493","HPO_Synonym__c":"Abnormality of the fovea","HPO_Name__c":"Abnormal foveal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:792","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Splitting of the neuroretinal layers of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030502","HPO_Name__c":"Retinoschisis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:792","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:792","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007984","HPO_Synonym__c":"Electronegative ERG; Electroretinogram: reduced b-wave amplitude; Reduced amplitude of dark-adapted bright flash electroretinogram b-wave; Reduced electroretinogram rod b-wave; Reduced ERG amplitude of b-wave","HPO_Name__c":"ERG: Reduced dark-adapted b-wave amplitude","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:792","HPO_Frequency__c":"Occasional (5-29%)","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:792","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030824","HPO_Synonym__c":"Mizuo-Nakamura phenomenon","HPO_Name__c":"Mizuo phenomenon","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:792","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:792","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bleeding within the vitreous compartment of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007902","HPO_Name__c":"Vitreous hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:792","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:792","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:792","HPO_Frequency__c":"Occasional (5-29%)","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:792","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:792","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:792","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:792","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025158","HPO_Name__c":"Hyperautofluorescent retinal lesion","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye","Pediatrics"],"Account":["Retinal"]},"synonyms":["juvenile x-linked retinoschisis"," retinoschisis, x-linked"," retinoschisis, x-linked recessive"," rs1"," x-linked juvenile retinoschisis"," x-linked juvenile retinoschisis type 1"," x-linked retinoschisis"," xlrs"]}