Phenotype: Central scotoma (HP:0000603)
Associated genes and diseases:
gene_symbol: CACNA1F
disease_id: OMIM:300476
disease_name: CONE-ROD DYSTROPHY, X-LINKED, 3
gene_symbol: CACNA1F
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PITPNM3
disease_id: OMIM:600977
disease_name: CONE-ROD DYSTROPHY 5
gene_symbol: PITPNM3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: RBP3
disease_id: OMIM:615233
disease_name: RETINITIS PIGMENTOSA 66
gene_symbol: MTRFR
disease_id: OMIM:615035
disease_name: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
gene_symbol: CYP4V2
disease_id: ORPHA:41751
disease_name: Bietti crystalline dystrophy
BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy
gene_symbol: PROM1
disease_id: OMIM:608051
disease_name: MACULAR DYSTROPHY, RETINAL, 2
gene_symbol: PROM1
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: PROM1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PROM1
disease_id: OMIM:612657
disease_name: CONE-ROD DYSTROPHY 12
gene_symbol: PRPH2
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: PRPH2
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: PRPH2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ELOVL4
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: ABCA4
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: ABCA4
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ABCA4
disease_id: OMIM:604116
disease_name: CONE-ROD DYSTROPHY 3
gene_symbol: CNGB3
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
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: DNAJC30
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: DNAJC30
disease_id: OMIM:619382
disease_name: LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1
gene_symbol: MT-ND1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO3
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CYB
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ATP6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND5
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: OPA1
disease_id: OMIM:165500
disease_name: OPTIC ATROPHY 1
gene_symbol: OPA1
disease_id: OMIM:125250
disease_name: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
gene_symbol: OPA1
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: MCAT
disease_id: OMIM:620583
disease_name: OPTIC ATROPHY 15
gene_symbol: DNM1L
disease_id: OMIM:610708
disease_name: OPTIC ATROPHY 5
gene_symbol: DNM1L
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: MFSD8
disease_id: OMIM:616170
disease_name: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
gene_symbol: RLBP1
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: RLBP1
disease_id: ORPHA:85128
disease_name: Bothnia retinal dystrophy
Västerbotten dystrophy
gene_symbol: RLBP1
disease_id: OMIM:607476
disease_name: NEWFOUNDLAND ROD-CONE DYSTROPHY
gene_symbol: RHO
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: RDH5
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: FDXR
disease_id: ORPHA:543470
disease_name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
gene_symbol: MECR
disease_id: OMIM:620629
disease_name: OPTIC ATROPHY 16
gene_symbol: CFAP410
disease_id: OMIM:617547
disease_name: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
gene_symbol: CFAP410
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RTN4IP1
disease_id: OMIM:616732
disease_name: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
gene_symbol: ATF6
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
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: ATF6
disease_id: OMIM:616517
disease_name: ACHROMATOPSIA 7
gene_symbol: NMNAT1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RAX2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RPGRIP1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CNGA3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
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: CDHR1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: OPN1LW
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ADAM9
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: GUCY2D
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RIMS1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: DRAM2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RPGR
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RPGR
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: OPN1MW
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CRX
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CRX
disease_id: OMIM:120970
disease_name: CONE-ROD DYSTROPHY 2
gene_symbol: UNC119
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CACNA2D4
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: GUCA1A
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: UBAP1L
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: POC1B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: POC1B
disease_id: OMIM:615973
disease_name: CONE-ROD DYSTROPHY 20
gene_symbol: SEMA4A
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TTLL5
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TLCD3B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CFAP418
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: AIPL1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RAB28
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RAB28
disease_id: OMIM:615374
disease_name: CONE-ROD DYSTROPHY 18
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: HGSNAT
disease_id: OMIM:616544
disease_name: RETINITIS PIGMENTOSA 73
gene_symbol: SAMD7
disease_id: OMIM:620762
disease_name: MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION
gene_symbol: RP2
disease_id: OMIM:312600
disease_name: RETINITIS PIGMENTOSA 2
gene_symbol: TMEM126A
disease_id: OMIM:612989
disease_name: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY
gene_symbol: TIMM8A
disease_id: ORPHA:52368
disease_name: Mohr-Tranebjaerg syndrome
DDON syndrome
Deafness-dystonia-optic neuronopathy syndrome
Hearing loss-dystonia-optic neuronopathy syndrome
gene_symbol: IMPG2
disease_id: OMIM:616152
disease_name: MACULAR DYSTROPHY, VITELLIFORM, 5
gene_symbol: ITM2B
disease_id: OMIM:616079
disease_name: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
gene_symbol: EFEMP1
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: CYP1B1
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: MYOC
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: MFN2
disease_id: OMIM:601152
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY