Inherited retinal dystrophy

rare

An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.

Identifiers: MONDO:0019118 Orphanet:71862
Part of: Hereditary neurological disease Retinal degeneration
Also known as: familial retinal dystrophy · genetic retinal dystrophy · hereditary retinal degeneration · hereditary retinal dystrophy · retinal dystrophy

Subtypes

Disease	ID	Subtypes	Genes
Retinitis pigmentosa	MONDO:0019200	105
Hereditary macular dystrophy	MONDO:0020242	54
Cone-rod dystrophy	MONDO:0015993	35
Leber congenital amaurosis	MONDO:0018998	22
Age-related macular degeneration	MONDO:0005150	15
PRPH2-related retinopathy	MONDO:1040055	8	PRPH2
GUCY2D retinopathy	MONDO:0100454	6	GUCY2D
PROM1-related retinopathy	MONDO:1040056	6	PROM1
RLBP1-related retinopathy	MONDO:0100444	4	RLBP1
ABCA4-related retinopathy	MONDO:0800406	3	ABCA4
CACNA1F-related retinopathy	MONDO:0700243	3	CACNA1F
CDHR1-related retinopathy	MONDO:0700375	3	CDHR1
RPGR-related retinopathy	MONDO:0100437	3	RPGR
CRX-related retinopathy	MONDO:1040064	2	CRX
GUCA1A-related retinopathy	MONDO:0700376	2	GUCA1A
IMPDH1-related retinopathy	MONDO:1040051	2	IMPDH1
NMNAT1-related retinopathy	MONDO:0800101	2	NMNAT1
Oguchi disease	MONDO:0019152	2
PDE6C-related retinopathy	MONDO:1040028	2	PDE6C
RDH5-related retinopathy	MONDO:0100443	2	RDH5
RHO-related retinopathy	MONDO:0700380	2	RHO
RPE65-related recessive retinopathy	MONDO:0100368	2	RPE65
SPATA7-related retinopathy	MONDO:1040070	2	SPATA7
Choroideremia	MONDO:0010557	2	CHM
ADAM9-related retinopathy	MONDO:0800398	1	ADAM9
AIPL1-related retinopathy	MONDO:0100438	1	AIPL1
ATF6-related retinopathy	MONDO:0100447	1	ATF6
BEST1-related dominant retinopathy	MONDO:0700238	1	BEST1
BEST1-related recessive retinopathy	MONDO:0700239	1	BEST1
CACNA2D4-related retinopathy	MONDO:0700244	1	CACNA2D4
CERKL-related retinopathy	MONDO:0800401	1	CERKL
CNGA1-related retinopathy	MONDO:0800405	1	CNGA1
CNGA3-related retinopathy	MONDO:0800102	1	CNGA3
CNGB1-related retinopathy	MONDO:0800403	1	CNGB1
CNGB3-related retinopathy	MONDO:0100446	1	CNGB3
ELOVL4-related maculopathy	MONDO:0700227	1	ELOVL4
EYS-related retinopathy	MONDO:0800391	1	EYS
FLVCR1-related retinopathy with or without ataxia	MONDO:0100449	1	FLVCR1
GNAT2-related retinopathy	MONDO:0800392	1	GNAT2
GPR179-related retinopathy	MONDO:0800396	1	GPR179
GRM6-related retinopathy	MONDO:0800397	1	GRM6
HGSNAT-related retinopathy	MONDO:1040040	1	HGSNAT
IDH3B-related retinopathy	MONDO:0800393	1	IDH3B
IMPG1-related dominant retinopathy	MONDO:1040036	1	IMPG1
IMPG1-related recessive retinopathy	MONDO:1040037	1	IMPG1
IMPG2-related dominant retinopathy	MONDO:0700242	1	IMPG2
IMPG2-related recessive retinopathy	MONDO:0700241	1	IMPG2
KCNV2-related retinopathy	MONDO:1040063	1	KCNV2
KIZ-related retinopathy	MONDO:0700232	1	KIZ
LCA5-related retinopathy	MONDO:0100445	1	LCA5
LRIT3-related retinopathy	MONDO:1040035	1	LRIT3
MAK-related retinopathy	MONDO:0700229	1	MAK
MERTK-related retinopathy	MONDO:0800394	1	MERTK
NYX-related retinopathy	MONDO:0800407	1	NYX
PCARE-related retinopathy	MONDO:0800404	1
PDE6A-related retinopathy	MONDO:0700224	1	PDE6A
PDE6G-related retinopathy	MONDO:1040034	1	PDE6G
PRPF31-related retinopathy	MONDO:0800395	1	PRPF31
PRPF8-related retinopathy	MONDO:0700234	1	PRPF8
RAB28-related retinopathy	MONDO:0100448	1	RAB28
RD3-related retinopathy	MONDO:0700235	1	RD3
RDH12-related recessive retinopathy	MONDO:0800099	1	RDH12
REEP6-related retinopathy	MONDO:1040066	1	REEP6
RP2-related retinopathy	MONDO:0100442	1	RP2
RPE65-related dominant retinopathy	MONDO:0100452	1	RPE65
SNRNP200-related dominant retinopathy	MONDO:0800098	1	SNRNP200
Sorsby fundus dystrophy	MONDO:0007640	1	TIMP3
TOPORS-related retinopathy	MONDO:0700233	1	TOPORS
TRPM1-related retinopathy	MONDO:0800402	1	TRPM1
TTLL5-related retinopathy	MONDO:1040038	1	TTLL5
Retinal dystrophies primarily involving Bruch's membrane	MONDO:0001666	1
MRCS syndrome	MONDO:0016979
RDH12-related dominant retinopathy	MONDO:0800100		RDH12
RP1-related dominant retinopathy	MONDO:0800400		RP1
RP1-related recessive retinopathy	MONDO:0800399		RP1
Revesz syndrome	MONDO:0009990		TINF2
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	MONDO:0018495
X-linked retinal dysplasia	MONDO:0010722
X-linked retinoschisis	MONDO:0010725		RS1
Aceruloplasminemia	MONDO:0011426		CP
Amaurosis-hypertrichosis syndrome	MONDO:0008766
Choroideremia-deafness-obesity syndrome	MONDO:0010558
Dystrophies primarily involving the retinal pigment epithelium	MONDO:0001924
Ectopia lentis-chorioretinal dystrophy-myopia syndrome	MONDO:0015997
Familial benign flecked retina	MONDO:0009235		PLA2G5
Foveal hypoplasia-presenile cataract syndrome	MONDO:0016395
Helicoid peripapillary chorioretinal degeneration	MONDO:0007176		TEAD1
Infantile cerebellar-retinal degeneration	MONDO:0013802		ACO2
Late-onset retinal degeneration	MONDO:0011579		C1QTNF5
Macular degeneration, early-onset	MONDO:0014501		FBN2
Microcephaly and chorioretinopathy 1	MONDO:0009624		TUBGCP6
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	MONDO:0007918		KIF11
Microcornea-myopic chorioretinal atrophy	MONDO:0014195		ADAMTS18
Oligocone trichromacy	MONDO:0019151
Ornithine aminotransferase deficiency	MONDO:0009796		OAT
Pigmented paravenous retinochoroidal atrophy	MONDO:0008246		CRB1
Progressive bifocal chorioretinal atrophy	MONDO:0010932
Progressive retinal dystrophy due to retinol transport defect	MONDO:0014060		RBP4
Retinal degeneration-nanophthalmos-glaucoma syndrome	MONDO:0009978
Retinal dystrophy in systemic or cerebroretinal lipidoses	MONDO:0001925
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	MONDO:0014483		ITM2B
Retinal dystrophy, X-linked, Gardner-Hardcastle type	MONDO:0978292
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	MONDO:0008641
Retinoschisis of fovea	MONDO:0009988
Retinoschisis, autosomal dominant	MONDO:0008382
Vitreoretinal dystrophy	MONDO:0001923

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