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Search StoneRounds Cases
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Case Number List (separated by commas or spaces):
Diagnosis:
Achromatopsia
AD Choroideremia
AD Cone and Cone Rod Dystrophy
AD CSNB
AD Neovascular Inflammatory Vitreoretinopathy
AD Optic Neuropathy
AD Retinitis Pigmentosa
AD Stargardt Disease
Alpha Mannosidosis
AR Cone and Cone Rod Dystrophy
AR CSNB, normal fundus
AR Optic Neuropathy
AR Retinitis Pigmentosa
AR Stargardt Disease
Bardet Biedl Syndrome
Batten Disease
Best Disease
Blue Cone Monochromacy
Boucher-Neuhauser Syndrome
Cohen Syndrome
Cone and Cone Rod Dystrophy
Cone-Rod Dystrophy
Congenital Stationary Cone Dysfunction
Congenital Stationary Night Blindness
Congenital Stationary Synaptic Dysfunction
ECORD
Enhanced S-Cone Syndrome
Foveal Hypoplasia
Fundus Albipunctatus
Gyrate Atrophy
Heimler Syndrome
Homocystinuria
Joubert Syndrome
Late Onset Retinal Dystrophy
LCHAD Associated Retinal Dystrophy
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Macular Disease
Malattia Leventinese
MCL
MELAS
MIDD
Neurofibromatosis
Neuropathy, Ataxia and Retinitis Pigmentosa
Norrie Disease
North Carolina Macular Dystrophy
Occult Macular Dystrophy
Oculocutaneous Albinism
Pattern Dystrophy
Posterior Column Ataxia with Retinitis Pigmentosa
Pseudoxanthoma Elasticum
Recessive Retinoschisis
Retinitis Pigmentosa with Anemia
Retinitis Pigmentosa with Ataxia
Retinitis Pigmentosa with Cognitive Impairment
Retinoblastoma
SECORD
Senior-Loken Syndrome
Sorsby Fundus Dystrophy
Spinocerebellar Ataxia
Spinocerebellar Ataxia 34
Stickler Syndrome
Syndromic Photoreceptor Disease
Tuberous Sclerosis
Type 1 Usher Syndrome
Type 2 Usher Syndrome
Type 3 Usher Syndrome
Usher Syndrome
von Hippel Lindau
Wagner Disease
Wolfram Syndrome
XL Choroideremia
XL Cone and Cone Rod Dystrophy
XL Congenital Stationary Night Blindness
XL Ocular Albinism
XL Retinitis Pigmentosa
XL Retinoschisis
Gene:
ABCA4
ABCC6
ABHD12
ACO2
ADGRV1
AIPL1
ARSG
ATXN7
BBS1
BBS10
BBS2
BBS9
BEST1
C1QTNF5
CABP4
CACNA1F
CAPN5
CDH23
CDHR1
CEP290
CEP78
CERKL
CHM
CLN3
CLRN1
CNGA1
CNGA3
CNGB1
CNGB3
COL2A1
CRB1
CRX
CTNNA1
DHDDS
EFEMP1
ELOVL4
EYS
FAM161A
FLVCR1
GPR143
GUCA1A
GUCY2D
HADHA
HARS
HK1
IFT140
IFT172
IMPDH1
IMPG2
INPP5E
IQCB1
IRX1
KCNV2
KIF11
KLHL7
L/M OPSIN Cluster
LCA5
MAK
MAN2B1
MERTK
MFRP
MFSD8
MKKS
MT-ATP6
MT-ND1
MT-ND4
MT-ND6
MT-TL1
MTR
MYO7A
NDP
NF2
NMNAT1
NPHP1
NR2E3
NYX
OAT
OPA1
OTX2
PAX6
PCDH15
PDE6B
PEX6
PNPLA6
PPT1
PRDM13
PROM1
PRPF3
PRPF31
PRPF8
PRPH2
RB1
RDH12
RDH5
REEP6
RHO
RLBP1
RP1
RP1L1
RP2
RPE65
RPGR
RPGRIP1
RS1
SLC24A1
SNRNP200
TIMP3
TRNT1
TRPM1
TSC2
TUBB4B
TULP1
TYR
USH1C
USH1G
USH2A
VCAN
VHL
VPS13B
WDR19
WFS1
ZNF408