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Disease Atlas
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All Diseases
2
I: Photoreceptor Diseases
2
IA: Isolated
2
IA1: Acquired/Progressive
IA2: Congenital/Stationary
2
IA2a: LCA
IA2b: SECORD
IA2c: ECORD
IA2d: Achromatopsia (Congenital Stationary Cone Dysfunction)
IA2e: Blue Cone Monochromacy
IA2f: Congenital Stationary Night Blindness
2
IA2fi: X-linked CSNB
IA2fii: Autosomal Dominant
IA2fiii: Autosomal Recessive with Normal Fundus
IA2fiv: Enhanced S-cone Syndrome
IA2fv: Fundus Albipunctatus
2
SR2923
| Fundus Albipunctatus | Gene: RDH5
SR731
| Fundus Albipunctatus | Gene: RLBP1
Other Congenital Stationary Night Blindness
IA2g: Congenital Stationary Synaptic Dysfunction
IB: Syndromic
IB1: Usher Syndrome
IB2: Bardet Biedl Syndrome
IB3: Neuronal Ceroid Lipofucinosis
IB4: Senior-Loken Syndrome
IB5: Joubert Syndrome
IB6: Microcephaly with or without Chorioretinopathy, Lymphedema
IB7: Retinitis Pigmentosa with Ataxia
IB8: Peroxisomal Biogenesis Disorders
IB9: Cohen Syndrome
IB10: Retinitis Pigmentosa with Anemia
IB11: Retinitis Pigmentosa with Cognitive Impairment
SR3012
| Retinitis Pigmentosa with Cognitive Impairment | Gene: HK1
Other Syndromic
II: Macular Diseases
IIA: Autosomal Recessive Stargardt Disease
IIB: Best Disease
IIC: Pattern Dystrophy
IID: Syndromic Macular Diseases
IIE: Occult Macular Dystrophy
SR869
| Occult Macular Dystrophy | Gene: RP1L1
SR1887
| Occult Macular Dystrophy | Gene: RP1L1
SR879
| Occult Macular Dystrophy | Gene: RP1L1
SR955
| Occult Macular Dystrophy | Gene: RP1L1
SR988
| Occult Macular Dystrophy | Gene: RP1L1
IIF: Stargardt-like Dominant Macular Dystrophy
IIG: North Carolina Macular Dystrophy
IIH: Sorsby Fundus Dystrophy
IIJ: Malattia Leventinese
Other Macular Diseases
III: Third Branch Disorders
IIIA: Choroidopathies
IIIB: Retinoschisis
IIIC: Optic Neuropathies
IIID: Tumors
IIIE: Vitreoretinopathies
IIIE1: Stickler Syndrome
IIIE2: Familial Exudative Vitreoretinopathy
IIIE3: AD Neovascular Inflammatory Vitreoretinopathy
SR2154
| AD Neovascular Inflammatory Vitreoretinopathy | Gene: CAPN5
SR61
| AD Neovascular Inflammatory Vitreoretinopathy | Gene: CAPN5
IIIE4: Wagner Disease (Erosive Vitreoretinopathy)
IIIF: Albinism
IIIG: Isolated Foveal Hypoplasia