
 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|
 Genes screened
|
 Variants in genes
|

 Variants
|

 Panel size
|

 Owner
|
00016862 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/200, OS 20/50. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016863 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/25, OS 20/25, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
3 |
1 |
Jana Zernant |
00016864 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 10/100, OS 10/160, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
3 |
1 |
Jana Zernant |
00016865 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/30, OS 20/200, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
3 |
1 |
Jana Zernant |
00016866 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/400, OS 20/100, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc/Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016867 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/25-2, OS 20/25-3, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
1 |
1 |
Jana Zernant |
00016868 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/70+2, OS 20/25-2. |
ABCA4 |
ABCA4 |
4 |
1 |
Jana Zernant |
00016869 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/15-3, OS 20/20+1, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016870 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/400, OS 20/400. |
ABCA4 |
ABCA4 |
3 |
1 |
Jana Zernant |
00016871 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; unknown |
ABCA4 |
ABCA4 |
3 |
1 |
Jana Zernant |
00016872 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/200, OS 20/200, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016873 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/20, OS 20/20, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
1 |
1 |
Jana Zernant |
00016876 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/50-2, OS 20/40, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
3 |
1 |
Jana Zernant |
00016877 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/400, OS 20/300, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.. |
ABCA4 |
ABCA4 |
3 |
1 |
Jana Zernant |
00016878 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 10/100-1, OS 10/60-1, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
5 |
1 |
Jana Zernant |
00016879 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/400, OS 20/400, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
3 |
1 |
Jana Zernant |
00016892 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 10/120+1, OS 10/100-1, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016893 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
- |
ABCA4 |
ABCA4 |
1 |
1 |
Jana Zernant |
00016894 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease, bull's eye maculopathy; Visual acuity: OD 20/100, OS 20/150, parafoveal or perifoveal flecks with frequent atrophy of the central macula; y24: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.7 OD, 0.88 OS. |
ABCA4 |
ABCA4 |
3 |
1 |
Jana Zernant |
00016895 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/400, OS 20/50-2, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016896 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/125, OS 20/125, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
3 |
1 |
Jana Zernant |
00016898 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/30+2, OS 20/40-2, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
1 |
1 |
Jana Zernant |
00016899 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/150, OS 20/25, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.. |
ABCA4 |
ABCA4 |
5 |
1 |
Jana Zernant |
00016901 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/30, OS 20/40-1, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016902 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/20, OS 20/20, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
1 |
1 |
Jana Zernant |
00016904 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease, bull's eye maculopathy; Visual acuity: OD 20/20, OS 20/20, parafoveal or perifoveal flecks with frequent atrophy of the central macula; y26, visual acuity: 20/20 OD, 20/20 OS, bull's eye maculopathy. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016905 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease, bull's eye maculopathy; Visual acuity: OD 20/20, OS 20/20, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
1 |
1 |
Jana Zernant |
00016906 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease, bull's eye maculopathy; Visual acuity: OD 20/100, OS 20/125, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
1 |
1 |
Jana Zernant |
00016907 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD light perception, OS light perception, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.. |
ABCA4 |
ABCA4 |
1 |
1 |
Jana Zernant |
00016908 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/40+1, OS 20/40, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016910 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/25, OS 20/25-1, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016911 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/200, OS 20/200, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
1 |
1 |
Jana Zernant |
00016912 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Visual acuity: OD 20/100-1, OS 20/200+1, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016913 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease, bull's eye maculopathy; Visual acuity: OD 20/20-3, OS 20/20-3, parafoveal or perifoveal flecks with frequent atrophy of the central macula. |
ABCA4 |
ABCA4 |
2 |
1 |
Jana Zernant |
00016915 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
- |
ABCA4 |
ABCA4 |
1 |
1 |
Jana Zernant |
00016916 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
- |
ABCA4 |
- |
- |
1 |
Jana Zernant |
00016918 |
- |
PubMed: Zernant 2014 |
- |
- |
- |
United States |
African American |
- |
- |
- |
- |
STGD1 |
Stargardt disease; Flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc. |
ABCA4 |
ABCA4 |
3 |
1 |
Jana Zernant |
00033683 |
- |
PubMed: Bax 2015 |
patient BII2 |
F |
no |
Netherlands |
- |
- |
- |
- |
- |
STGD1 |
progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE |
ABCA4 |
ABCA4 |
2 |
1 |
Nathalie Bax |
00074688 |
- |
PubMed: Booij 2011 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074689 |
- |
PubMed: Booij 2011 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074690 |
- |
PubMed: Booij 2011 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074691 |
- |
PubMed: Booij 2011 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074692 |
- |
PubMed: Booij 2011 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074696 |
- |
PubMed: Chen 2013 |
3-generation family, 2 affected |
? |
? |
China |
Chinese |
- |
- |
- |
- |
STGD1 |
Stargardt disease |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074697 |
- |
PubMed: Chen 2013 |
2-generation family, 2 affected |
? |
? |
China |
Chinese |
- |
- |
- |
- |
STGD1 |
Stargardt disease |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074713 |
- |
PubMed: Jin 2014 |
- |
M |
no |
China |
Chinese |
- |
- |
- |
- |
STGD1 |
Stargardt disease; macular dystrophy, reduction in central visual acuity in second decade of life, delay in dark adaptation in 40s, fundus photographs showed extensive atrophic-appearing RPE changes and pigmentation in the posterior pole of the retina, abnormal cone and rod ERG |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074714 |
- |
PubMed: Jin 2014 |
- |
M |
no |
China |
Chinese |
- |
- |
- |
- |
STGD1 |
Stargardt disease; macular dystrophy, reduction in central visual acuity in second decade of life, delay in dark adaptation in 40s, fundus photographs showed extensive atrophic-appearing RPE changes and pigmentation in the posterior pole of the retina, abnormal cone and rod ERG |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074715 |
- |
PubMed: Jin 2014 |
- |
M |
no |
China |
Chinese |
- |
- |
- |
- |
STGD1 |
Stargardt disease; macular dystrophy, reduction in central visual acuity in second decade of life, delay in dark adaptation in 40s, fundus photographs showed extensive atrophic-appearing RPE changes and pigmentation in the posterior pole of the retina, abnormal cone and rod ERG |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074770 |
- |
PubMed: Bax 2015 |
patient CII2 |
F |
? |
Netherlands |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074772 |
- |
PubMed: Anderson 1995 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074773 |
- |
PubMed: Anderson 1995 |
- |
? |
no |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074774 |
- |
PubMed: Anderson 1995 |
- |
? |
yes |
Saudi Arabia |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074775 |
- |
PubMed: Anderson 1995 |
- |
? |
yes |
United States |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074776 |
- |
PubMed: Anderson 1995 |
- |
? |
? |
United States |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074777 |
- |
PubMed: Anderson 1995 |
- |
? |
? |
United States |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074778 |
- |
PubMed: Anderson 1995 |
- |
? |
? |
United States |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074779 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074780 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074781 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074782 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074783 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074784 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074785 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074786 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074787 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074788 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074789 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074790 |
- |
PubMed: Maugeri 1999 |
Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
3 |
1 |
Stéphanie Cornelis |
00074791 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074792 |
- |
PubMed: Maugeri 1999 |
- |
? |
? |
Sweden;Germany;Netherlands |
- |
- |
- |
- |
- |
STGD1 |
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074824 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074825 |
- |
PubMed: Briggs 2001 |
2-generation family, 2 affected |
F |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074826 |
- |
PubMed: Briggs 2001 |
Sibling of 034-039; 2-generation family, 2 affected |
M |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074827 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074828 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074829 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074830 |
- |
PubMed: Briggs 2001 |
2-generation family, 1 affected |
F |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
3 |
1 |
Stéphanie Cornelis |
00074832 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074833 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074834 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074835 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074836 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074838 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074839 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074840 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074842 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074843 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074844 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074846 |
- |
PubMed: Briggs 2001 |
2-generation family, 1 affected |
F |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074847 |
- |
PubMed: Briggs 2001 |
2-generation family, 1 affected |
F |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074848 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074849 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074850 |
- |
PubMed: Briggs 2001 |
2-generation family, 3 affected |
F |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074851 |
- |
PubMed: Briggs 2001 |
Sibling of 071-003; 2-generation family, 3 affected |
F |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074852 |
- |
PubMed: Briggs 2001 |
Sibling of 071-003; 2-generation family, 3 affected |
F |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074853 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074854 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074855 |
- |
PubMed: Briggs 2001 |
- |
? |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
2 |
1 |
Stéphanie Cornelis |
00074856 |
- |
PubMed: Briggs 2001 |
2-generation family, 5 affected |
F |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |
00074857 |
- |
PubMed: Briggs 2001 |
Sibling of 032-076; 2-generation family, 5 affected |
F |
? |
- |
? |
- |
- |
- |
- |
STGD1 |
Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated. |
ABCA4 |
ABCA4 |
1 |
1 |
Stéphanie Cornelis |