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Logo of bmcmdBioMed Centralsearchsubmit a manuscriptregisterthis articleBMC Medical Genetics
 
From:
Published online 2012 August 3. doi: 10.1186/1471-2350-13-67

Table 1

Clinical Information and Genetic Findings of Putative Stargardt Disease Cases

SampleAge SexAcuity OD Acuity OSClinical NotesERG FindingsColor visionABCA4variantsPRPH2variantsOther variants
STGD-01
19 Male
20/400 20/160
Peripapillary sparing, discrete flecks; nummular atrophy
Normal rod Abnormal cone
No testing
p.N965S p.R2038W
.
.
STGD-02
15 Female
20/160 20/100
Few yellowish Flecks without autofluorescence
Normal rod Normal cone
Abnormal
p.Q636X p.G1961E*
.
.
STGD-03
58 Female
20/50 20/16
No significant atrophy
Abnormal rod Abnormal cone
No testing
.
p.W25C p.Q276X
.
STGD-04
51 Male
20/20 20/20
Peripapillary sparing both eyes; “stellate” pattern
Abnormal rod Abnormal cone
Abnormal
.
p.G167S
.
STGD-05
55 Female
20/25 20/20
Central atrophy with out-branching; "stellate" pattern
Normal rod Normal cone
Normal
.
p.T236X
.
STGD-06
34 Female
20/200 20/200
Classic Stargardt
Normal rod Abnormal cone
No testing
p.V989A
.
.
STGD-07
41 Male
20/40 20/640
Flecks, peripapillary sparing, central geographic atrophy
Normal rod Abnormal cone
No testing
.
.
.
STGD-08
37 Male
20/40 20/400
No peripapillary sparing/flecks; irregular geographic atrophy with RPE changes; thickening on OCT
Normal rod Normal cone
Abnormal
.
.
CRB1 p.K801X
STGD-0961 Male20/25 20/25"Horseshoe" pattern of atrophyNormal rod Normal coneNo testing..ELOVL4 p.A311T

“Age” is age at ascertainment. Abbreviations: ERG - Electroretinogram; RPE - Retinal pigment epithelium; OD - right eye; OS - left eye. * Variant previously observed by dideoxy sequencing. “Variants” indicates putatively causal variants and does not include predicted benign or common (polymorphic) variants.