Details of Disease

General Information of Disease (ID: DISWIF1T)

Disease Name	Choroidal dystrophy
Synonyms	choroidal dystrophy central areolar; choroidal dystrophy, central areolar, 1; CACD1; CACD; areolar atrophy of the macula; choroidal dystrophy; central areolar choroidal sclerosis
Disease Class	9B61: Choroidal dystrophy
Definition	A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.
Disease Hierarchy	DISYKSRF: Genetic disease DIS6C8BX: Optic choroid disorder DISWIF1T: Choroidal dystrophy
ICD Code	ICD-11 ICD-11: 9B61 ICD-10 ICD-10: H31.2 Expand ICD-11 '9B61 Expand ICD-10 'H31.2
Disease Identifiers	MONDO ID MONDO_0008982 MESH ID C535358 UMLS CUI C1536451 MedGen ID 283932 Orphanet ID 75377 SNOMED CT ID 231996009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 3 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AAV2-REP1	DMXYX0V	Phase 2	NA	[1]
SPK-7001	DMEVGI9	Phase 1/2	Gene therapy	[2]
SPK-CHM	DM6TDD7	Phase 1/2	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GUCY2D	TTWNFC2	Supportive	Autosomal dominant	[3]
GUCY2D	TTWNFC2	Strong	Genetic Variation	[3]
TST	TT51OTS	Strong	Genetic Variation	[4]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRPH	OT6VUH78	Limited	Genetic Variation	[4]
GUCY2D	OT81UJI0	Supportive	Autosomal dominant	[3]
PRPH2	OTNH2G5H	Supportive	Autosomal dominant	[5]
CDHR1	OT1ORXCM	moderate	Genetic Variation	[6]
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References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	Clinical pipeline report, company report or official report of Spark Therapeutics.
3	A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. Invest Ophthalmol Vis Sci. 2012 Jul 12;53(8):4748-53. doi: 10.1167/iovs.12-10061.
4	Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus.J Hum Genet. 2009 Oct;54(10):589-94. doi: 10.1038/jhg.2009.82. Epub 2009 Aug 21.
5	Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. Arch Ophthalmol. 2003 Oct;121(10):1458-61. doi: 10.1001/archopht.121.10.1458.
6	A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3388-3397. doi: 10.1167/iovs.18-26415.