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Disease Atlas
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Disease Atlas
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Show Cases Added By Recency:
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All Diseases
10
I: Photoreceptor Diseases
10
IA: Isolated
10
IA1: Acquired/Progressive
IA2: Congenital/Stationary
10
IA2a: LCA
10
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
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
IB7a: Posterior Column Ataxia with Retinitis Pigmentosa
SR160
| Posterior Column Ataxia with Retinitis Pigmentosa | Gene: FLVCR1
SR274
| Posterior Column Ataxia with Retinitis Pigmentosa | Gene: FLVCR1
SR83
| Posterior Column Ataxia with Retinitis Pigmentosa | Gene: FLVCR1
IB7b: Spinocerebellar Ataxia 34
IB7c: Neuropathy, Ataxia and Retinitis Pigmentosa
Other 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
IIF: Stargardt-like Dominant Macular Dystrophy
IIG: North Carolina Macular Dystrophy
SR20
| North Carolina Macular Dystrophy | Gene: PRDM13
SR2018
| North Carolina Macular Dystrophy | Gene: PRDM13
SR614
| North Carolina Macular Dystrophy | Gene: PRDM13
SR1751
| North Carolina Macular Dystrophy | Gene: IRX1
SR763
| North Carolina Macular Dystrophy | Gene: IRX1
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