Phenotype: Abnormal posterior segment imaging (HP:0030601)
Associated genes and diseases:
gene_symbol: IDH3A
disease_id: OMIM:619007
disease_name: RETINITIS PIGMENTOSA 90
gene_symbol: RS1
disease_id: ORPHA:792
disease_name: X-linked retinoschisis
X-linked juvenile retinoschisis
XLRS
gene_symbol: KIAA1549
disease_id: OMIM:618613
disease_name: RETINITIS PIGMENTOSA 86
gene_symbol: KIF3B
disease_id: OMIM:618955
disease_name: RETINITIS PIGMENTOSA 89
gene_symbol: CWC27
disease_id: OMIM:250410
disease_name: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES
gene_symbol: TLCD3B
disease_id: OMIM:619531
disease_name: CONE-ROD DYSTROPHY 22
gene_symbol: SAMD7
disease_id: OMIM:620762
disease_name: MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION
gene_symbol: TIMP3
disease_id: ORPHA:59181
disease_name: Sorsby pseudoinflammatory fundus dystrophy
gene_symbol: CHM
disease_id: ORPHA:180
disease_name: Choroideremia
CHM
Tapetochoroidal dystrophy
gene_symbol: RP1L1
disease_id: OMIM:613587
disease_name: OCCULT MACULAR DYSTROPHY
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: HLA-A
disease_id: ORPHA:179
disease_name: Birdshot chorioretinopathy
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
gene_symbol: CLCC1
disease_id: OMIM:609913
disease_name: RETINITIS PIGMENTOSA 32
gene_symbol: SLC6A6
disease_id: OMIM:145350
disease_name: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY
gene_symbol: TRNT1
disease_id: OMIM:616959
disease_name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
gene_symbol: REEP6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ROM1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RLBP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CLRN1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ABCA4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ZNF513
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CDHR1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL2BP
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RPE65
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AHI1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NEK2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: EYS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT88
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SNRNP200
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CA4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: HGSNAT
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AHR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPDH1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TTC8
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CRX
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6G
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT43
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBS2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: MAK
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: FSCN2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CERKL
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IDH3B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TUB
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: COQ8B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CRB1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: MERTK
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SLC7A14
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRCD
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: USH2A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARHGEF18
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RBP3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RHO
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP9
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NR2E3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: LRAT
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: FAM161A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SPATA7
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ZNF408
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TOPORS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RDH12
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPG2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TMEM216
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CC2D2A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: OFD1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SCAPER
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT140
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: GUCA1B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CNGA1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CNGB1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AGBL5
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PCARE
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BEST1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: DHX38
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TULP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RGR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPG1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SEMA4A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NRL
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SAG
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: DHDDS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SLC24A5
disease_id: ORPHA:370097
disease_name: Oculocutaneous albinism type 6
OCA6
gene_symbol: CLEC3B
disease_id: OMIM:619977
disease_name: MACULAR DYSTROPHY, RETINAL, 4
gene_symbol: OPN1MW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: OPN1LW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: ATF6
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: PDE6C
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: PDE6H
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: GNAT2
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: CNGA3
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: CNGB3
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: PAX6
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: SELENOI
disease_id: ORPHA:506353
disease_name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Autosomal recessive complex SPG due to Kennedy pathway dysfunction
Autosomal recessive spastic paraplegia type 81
gene_symbol: EFEMP1
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: CFH
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: CFI
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: PROM1
disease_id: OMIM:608051
disease_name: MACULAR DYSTROPHY, RETINAL, 2
gene_symbol: PRPF31
disease_id: OMIM:600138
disease_name: RETINITIS PIGMENTOSA 11
gene_symbol: MFSD8
disease_id: OMIM:616170
disease_name: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
gene_symbol: PRPF8
disease_id: OMIM:600059
disease_name: RETINITIS PIGMENTOSA 13
gene_symbol: RAX2
disease_id: OMIM:620102
disease_name: RETINITIS PIGMENTOSA 95
gene_symbol: IFT172
disease_id: OMIM:616394
disease_name: RETINITIS PIGMENTOSA 71
gene_symbol: KLHL7
disease_id: OMIM:612943
disease_name: RETINITIS PIGMENTOSA 42
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: TTLL5
disease_id: OMIM:615860
disease_name: CONE-ROD DYSTROPHY 19
gene_symbol: PRPH2
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: GUCY2D
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: GUCA1A
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: CFAP418
disease_id: OMIM:617406
disease_name: BARDET-BIEDL SYNDROME 21
gene_symbol: ARL6
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: POMGNT1
disease_id: OMIM:617123
disease_name: RETINITIS PIGMENTOSA 76
gene_symbol: ARSG
disease_id: OMIM:618144
disease_name: USHER SYNDROME, TYPE IV
gene_symbol: RPGR
disease_id: OMIM:304020
disease_name: CONE-ROD DYSTROPHY, X-LINKED, 1
gene_symbol: KIZ
disease_id: OMIM:615780
disease_name: RETINITIS PIGMENTOSA 69