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Disease Atlas
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Show Cases Added By Recency:
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All Diseases
8
I: Photoreceptor Diseases
7
IA: Isolated
7
IA1: Acquired/Progressive
2
IA1a: Retinitis Pigmentosa
2
IA1ai: X-linked
IA1aii: Autosomal Dominant
IA1aiii: Autosomal Recessive
2
SR697
| AR Retinitis Pigmentosa | Gene: USH2A
SR641
| AR Retinitis Pigmentosa | Gene: MAK
SR144
| AR Retinitis Pigmentosa | Gene: USH2A
SR1665
| AR Retinitis Pigmentosa | Gene: USH2A
SR49
| AR Retinitis Pigmentosa | Gene: USH2A
SR816
| AR Retinitis Pigmentosa | Gene: USH2A
SR90
| AR Retinitis Pigmentosa | Gene: USH2A
SR1833
| AR Retinitis Pigmentosa | Gene: FAM161A
SR467
| AR Retinitis Pigmentosa | Gene: FAM161A
SR739
| AR Retinitis Pigmentosa | Gene: FAM161A
SR751
| AR Retinitis Pigmentosa | Gene: FAM161A
SR1832
| AR Retinitis Pigmentosa | Gene: CRB1
SR449
| AR Retinitis Pigmentosa | Gene: CRB1
SR677
| AR Retinitis Pigmentosa | Gene: MAK
SR846
| AR Retinitis Pigmentosa | Gene: MAK
SR1061
| AR Retinitis Pigmentosa | Gene: EYS
SR1745
| AR Retinitis Pigmentosa | Gene: EYS
SR2712
| AR Retinitis Pigmentosa | Gene: EYS
SR172
| AR Retinitis Pigmentosa | Gene: IMPG2
SR18
| AR Retinitis Pigmentosa | Gene: PDE6B
SR364
| AR Retinitis Pigmentosa | Gene: PDE6B
SR71
| AR Retinitis Pigmentosa | Gene: PDE6B
SR568
| AR Retinitis Pigmentosa | Gene: CDHR1
SR1060
| AR Retinitis Pigmentosa | Gene: CERKL
SR1584
| AR Retinitis Pigmentosa | Gene: CERKL
SR318
| AR Retinitis Pigmentosa | Gene: CERKL
SR121
| AR Retinitis Pigmentosa | Gene: CNGB1
SR166
| AR Retinitis Pigmentosa | Gene: DHDDS
SR323
| AR Retinitis Pigmentosa | Gene: MERTK
SR994
| AR Retinitis Pigmentosa | Gene: ZNF408
SR124
| AR Retinitis Pigmentosa | Gene: ABHD12
SR130
| AR Retinitis Pigmentosa | Gene: IFT172
SR118
| AR Retinitis Pigmentosa | Gene: MFRP
SR123
| AR Retinitis Pigmentosa | Gene: SLC24A1
SR136
| AR Retinitis Pigmentosa | Gene: SNRNP200
SR538
| AR Retinitis Pigmentosa | Gene: TULP1
SR1856
| AR Retinitis Pigmentosa | Gene: CNGA1
SR1846
| AR Retinitis Pigmentosa | Gene: REEP6
IA1b: Cone and Cone Rod Dystrophy
IA1bi: X-linked
IA1bii: Autosomal Dominant
IA1biii: Autosomal Recessive
Other Cone and Cone Rod Dystrophy
IA2: Congenital/Stationary
5
IA2a: LCA
IA2b: SECORD
2
SR302
| SECORD | Gene: CEP290
SR43
| SECORD | Gene: RDH12
SR201
| SECORD | Gene: CEP290
SR2368
| SECORD | Gene: CEP290
SR1796
| SECORD | Gene: CRB1
SR263
| SECORD | Gene: CRB1
SR54
| SECORD | Gene: NMNAT1
SR2921
| SECORD | Gene: RPE65
SR741
| SECORD | Gene: RPE65
SR88
| SECORD | Gene: RPE65
SR627
| SECORD | Gene: RPGRIP1
SR306
| SECORD | Gene: LCA5
SR2702
| SECORD | Gene: OTX2
IA2c: ECORD
3
SR84
| ECORD | Gene: IQCB1
SR185
| ECORD | Gene: CEP290
SR2282
| ECORD | Gene: CRB1
SR533
| ECORD | Gene: CRB1
SR80
| ECORD | Gene: CRB1
SR404
| ECORD | Gene: RHO
SR465
| ECORD | Gene: IMPDH1
SR53
| ECORD | Gene: PDE6B
SR170
| ECORD | Gene: RPGR
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
IA2fv: Fundus Albipunctatus
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
IB1a: Type I
IB1b: Type II
IB1c: Type III
Other Usher Syndrome
IB2: Bardet Biedl Syndrome
SR1065
| Bardet Biedl Syndrome | Gene: BBS1
SR114
| Bardet Biedl Syndrome | Gene: BBS1
SR2059
| Bardet Biedl Syndrome | Gene: BBS1
SR2842
| Bardet Biedl Syndrome | Gene: BBS1
SR343
| Bardet Biedl Syndrome | Gene: BBS1
SR540
| Bardet Biedl Syndrome | Gene: BBS1
SR56
| Bardet Biedl Syndrome | Gene: BBS1
SR451
| Bardet Biedl Syndrome | Gene: BBS2
SR1897
| Bardet Biedl Syndrome | Gene: BBS10
SR1914
| Bardet Biedl Syndrome | Gene: BBS10
SR32
| Bardet Biedl Syndrome | Gene: BBS10
SR1058
| Bardet Biedl Syndrome | Gene: MKKS
SR321
| Bardet Biedl Syndrome | Gene: BBS9
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
SR497
| Cohen Syndrome | Gene: VPS13B
SR531
| Cohen Syndrome | Gene: VPS13B
SR597
| Cohen Syndrome | Gene: VPS13B
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
IID1: Mitochondrial Macular Dystrophy
IID2: Pseudoxanthoma Elasticum
SR2274
| Pseudoxanthoma Elasticum | Gene: ABCC6
SR1702
| Pseudoxanthoma Elasticum | Gene: ABCC6
SR1899
| Pseudoxanthoma Elasticum | Gene: ABCC6
SR2289
| Pseudoxanthoma Elasticum | Gene: ABCC6
SR2291
| Pseudoxanthoma Elasticum | Gene: ABCC6
SR65
| Pseudoxanthoma Elasticum | Gene: ABCC6
IID3: Homocystinuria with Macular Atrophy
IID4: Spinocerebellar Atrophy
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
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
1
IIIA: Choroidopathies
IIIB: Retinoschisis
1
IIIB1: X-linked
IIIB2: Recessive
1
SR418
| Recessive Retinoschisis | Gene: CRB1
IIIC: Optic Neuropathies
IIID: Tumors
IIIE: Vitreoretinopathies
IIIF: Albinism
IIIG: Isolated Foveal Hypoplasia