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Disease Atlas
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Disease Atlas
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All Diseases
5
I: Photoreceptor Diseases
IA: Isolated
IA1: Acquired/Progressive
IA2: Congenital/Stationary
IA2a: LCA
SR644
| Leber Congenital Amaurosis | Gene: CEP290
SR2325
| Leber Congenital Amaurosis | Gene: CEP290
SR2624
| Leber Congenital Amaurosis | Gene: CEP290
SR715
| Leber Congenital Amaurosis | Gene: CEP290
SR703
| Leber Congenital Amaurosis | Gene: AIPL1
SR82
| Leber Congenital Amaurosis | Gene: CRX
SR206
| Leber Congenital Amaurosis | Gene: NMNAT1
SR2292
| Leber Congenital Amaurosis | Gene: NMNAT1
SR561
| Leber Congenital Amaurosis | Gene: NMNAT1
SR2709
| Leber Congenital Amaurosis | Gene: GUCY2D
IA2b: SECORD
IA2c: ECORD
IA2d: Achromatopsia (Congenital Stationary Cone Dysfunction)
IA2e: Blue Cone Monochromacy
IA2f: Congenital Stationary Night Blindness
IA2g: Congenital Stationary Synaptic Dysfunction
IB: Syndromic
II: Macular Diseases
5
IIA: Autosomal Recessive Stargardt Disease
IIB: Best Disease
IIC: Pattern Dystrophy
IID: Syndromic Macular Diseases
IIE: Occult Macular Dystrophy
5
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