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Disease Atlas
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All Diseases
10
I: Photoreceptor Diseases
10
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
IA2fi: X-linked CSNB
IA2fii: Autosomal Dominant
IA2fiii: Autosomal Recessive with Normal Fundus
IA2fiv: Enhanced S-cone Syndrome
SR1777
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR28
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR2134
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR2295
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR2720
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR411
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR67
| Enhanced S-Cone Syndrome | Gene: NR2E3
IA2fv: Fundus Albipunctatus
Other Congenital Stationary Night Blindness
IA2g: Congenital Stationary Synaptic Dysfunction
IB: Syndromic
10
IB1: Usher Syndrome
10
IB1a: Type I
10
SR447
| Type 1 Usher Syndrome | Gene: PCDH15
SR1829
| Type 1 Usher Syndrome | Gene: MYO7A
SR487
| Type 1 Usher Syndrome | Gene: MYO7A
SR548
| Type 1 Usher Syndrome | Gene: MYO7A
SR85
| Type 1 Usher Syndrome | Gene: MYO7A
SR573
| Type 1 Usher Syndrome | Gene: CDH23
SR100
| Type 1 Usher Syndrome | Gene: USH1C
SR94
| Type 1 Usher Syndrome | Gene: USH1C
SR96
| Type 1 Usher Syndrome | Gene: USH1C
SR370
| Type 1 Usher Syndrome | Gene: USH1G
IB1b: Type II
SR55
| Type 2 Usher Syndrome | Gene: USH2A
SR1603
| Type 2 Usher Syndrome | Gene: USH2A
SR1651
| Type 2 Usher Syndrome | Gene: USH2A
SR2828
| Type 2 Usher Syndrome | Gene: USH2A
SR428
| Type 2 Usher Syndrome | Gene: USH2A
SR566
| Type 2 Usher Syndrome | Gene: USH2A
SR643
| Type 2 Usher Syndrome | Gene: USH2A
SR1902
| Type 2 Usher Syndrome | Gene: ADGRV1
SR527
| Type 2 Usher Syndrome | Gene: CEP78
SR1187
| Type 2 Usher Syndrome | Gene: ARSG
IB1c: Type III
Other 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
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
SR23
| Sorsby Fundus Dystrophy | Gene: TIMP3
SR2273
| Sorsby Fundus Dystrophy | Gene: TIMP3
SR2290
| Sorsby Fundus Dystrophy | Gene: TIMP3
SR2324
| Sorsby Fundus Dystrophy | Gene: TIMP3
SR41
| Sorsby Fundus Dystrophy | Gene: TIMP3
IIJ: Malattia Leventinese
Other Macular Diseases
III: Third Branch Disorders
IIIA: Choroidopathies
IIIB: Retinoschisis
IIIC: Optic Neuropathies
IIID: Tumors
IIIE: Vitreoretinopathies
IIIF: Albinism
IIIF1: X-linked Ocular Albinism
IIIF2: Oculocutaneous Albinism
IIIF2a: Nonsyndromic
SR2307
| Oculocutaneous Albinism | Gene: TYR
IIIG: Isolated Foveal Hypoplasia