All individuals with variants in gene ABCA4

18627 entries on 187 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000232 UNC533 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents - - United States - - - - - CILD15 - 1 1 Hannah Mitchison
00000234 UNC660 2-generation family, 1 affected, unaffected parents PubMed: Antony 2013 - - United States - - - - - CILD15 - 1 1 Hannah Mitchison
00001791 - - - - - (United States) - - - - - RP - 4 1 Feng Wang
00001809 - - - - - (United States) - - - - - RP - 2 1 Feng Wang
00016603 - - - - - - - - - - - - - 1 1 Christopher Watson
00016614 - - - - - - - - - - - - - 2 1 Christopher Watson
00016862 - PubMed: Zernant 2014 - - - United States African American - - - - STGD1 Stargardt disease; Visual acuity: OD 20/200, OS 20/50. 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. 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. 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. 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.. 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. 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. 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. 2 1 Jana Zernant
00016870 - PubMed: Zernant 2014 - - - United States African American - - - - STGD1 Stargardt disease; Visual acuity: OD 20/400, OS 20/400. 3 1 Jana Zernant
00016871 - PubMed: Zernant 2014 - - - United States African American - - - - STGD1 Stargardt disease; unknown 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. 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. 1 1 Jana Zernant
00016875 - PubMed: Zernant 2014 - - - United States African American - - - - CORD3 Stargardt disease; Visual acuity: OD 20/400, OS 20/400, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.. 2 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. 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.. 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. 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. 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. 2 1 Jana Zernant
00016893 - PubMed: Zernant 2014 - - - United States African American - - - - STGD1 - 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. 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. 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. 3 1 Jana Zernant
00016897 - PubMed: Zernant 2014 - - - United States African American - - - - CORD3 cone-rod dystrophy (HP:0000510); Visual acuity: OD count fingers, OS count fingers, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.. 2 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. 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.. 5 1 Jana Zernant
00016900 - PubMed: Zernant 2014 - - - United States African American - - - - CORD3 cone-rod dystrophy (HP:0000510); Visual acuity: OD count fingers, OS count fingers, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.. 3 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. 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. 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. 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. 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. 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.. 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. 2 1 Jana Zernant
00016909 - PubMed: Zernant 2014 - - - United States African American - - - - CORD3 - 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. 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. 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. 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. 2 1 Jana Zernant
00016915 - PubMed: Zernant 2014 - - - United States African American - - - - STGD1 - 1 1 Jana Zernant
00016917 - PubMed: Zernant 2014 - - - United States African American - - - - CORD3 cone-rod dystrophy (HP:0000510); Visual acuity: OD 5/180+1, OS 5/160+1. 1 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. 3 1 Jana Zernant
00033087 - - - F - - - - - - - retinal disease clumped pigmentary retinal degeneration 2 1 Kornelia Neveling
00033093 - - - M - - - - - - - retinal disease - 2 1 Kornelia Neveling
00033124 - - - F - - - - - - - retinal disease dystrophy, macular, juvenile 2 1 Kornelia Neveling
00033130 - - - M - - - - - - - retinal disease Wilm's tumor 2 1 Kornelia Neveling
00033132 - PubMed: Neveling 2012 - M no - - - - - - retinal disease retinal degeneration, severe, early onset (EOSRD) 2 1 Kornelia Neveling
00033137 - - - F - - - - - - - retinal disease - 2 1 Kornelia Neveling
00033152 - - - M - - - - - - - retinal disease - 2 1 Kornelia Neveling
00033153 - - - M - - - - - - - retinal disease - 2 1 Kornelia Neveling
00033342 - PubMed: Abu-Safieh-2013 - - - - - - - - - retinal disease - 2 1 Leen Abu Safieh
00033638 - PubMed: Bauwens 2014 family, 1 patient M no Belgium Belgian - - - - STGD Stargardt disease, severe; severe cone-rod dystrophy; y37, visual acuity OD: 20/400, OS: 20/400. y32: Severe chorioretinal atrophy, macula up to periphery most affected 2 23 Miriam Bauwens
00033639 - PubMed: Bauwens 2014 - F no Belgium Belgian - - - - STGD - 2 1 Miriam Bauwens
00033640 - PubMed: Bauwens 2014 - F no - Arab - - - - STGD - 2 1 Miriam Bauwens
00033641 - PubMed: Bauwens 2014 - M no Turkey Turkish - - - - STGD severe ABCA4-associated phenotypes (Retinitis pigmentosa); y25, visual acuity OD: 0.2 (*LogMAR chart, BCVA not based on Snellen) , OS: 0.1 (*LogMAR chart, BCVA not based on) 25 Macular and peripheral atrophy with retinal vessel attenuation, waxy pallor of the optic nerve, generalized intraretinal pigmentation with midperipheral bone spiculae and inferior pigment clumping. y25: Macular and peripheral atrophy with retinal vessel attenuation, waxy pallor of the optic nerve, generalized intraretinal pigmentation with midperipheral bone spiculae and inferior pigment clumping 1 1 Miriam Bauwens
00033642 - PubMed: Bauwens 2014 2-generation family, 2 cases, F1II4 F no Belgium Belgian - - - - STGD Stargardt disease, severe; y57, visual acuity OD: <20/400, OS: <20/400. y42: Severe chorioretinal atrophy, macula up to periphery; macula most affected 2 2 Miriam Bauwens
00033643 - PubMed: Braun 2013 3-generation family, 1 affected, unaffected carrier parents/children F no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033644 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 3 1 Johan den Dunnen
00033645 - PubMed: Braun 2013 3-generation family, 1 affected, unaffected carrier parents/children F no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 3 1 Johan den Dunnen
00033646 - PubMed: Braun 2013, PubMed: Schindler 2010 2-generation family, 2 affecteds, unaffected carrier parent/sibs - no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 2 Johan den Dunnen
00033647 - PubMed: Braun 2013 2-generation family, 2 affecteds, unaffected carrier parent/sibs - no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 2 Johan den Dunnen
00033648 - PubMed: Braun 2013 2-generation family, 1 affected M no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033649 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033650 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033651 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier sibs M no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 3 1 Johan den Dunnen
00033652 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents/sib F no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033653 - PubMed: Braun 2013 2-generation family, 2 affecteds, unaffected carrier sib - no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 2 Johan den Dunnen
00033654 - PubMed: Braun 2013 3-generation family, 2 affecteds, unaffected carrier children M no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 2 Johan den Dunnen
00033655 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents M no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033656 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033657 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents M no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033658 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents F no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033659 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents F no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033660 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents F no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033661 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents M no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033662 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents M no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033663 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents M no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033664 - PubMed: Braun 2013 2-generation family, 3 affecteds, unaffected carrier parents/sib - no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 3 3 Johan den Dunnen
00033665 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents M no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033666 - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - STGD at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry 2 1 Johan den Dunnen
00033667 - PubMed: Bax 2015 2-generation family, 1 affected, unaffected parents M - Netherlands - - - - - CORD CRD; progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced 2 1 Nathalie Bax
00033668 - PubMed: Bax 2015 2-generation family, 1 affected, unaffected parents F no Netherlands - - - - - STGD Stargardt with CRD phenotype; progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE and progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced 2 1 Nathalie Bax
00033669 - PubMed: Bax 2015 2-generation family, 1 affected, unaffected parents F no Netherlands - - - - - STGD Stargardt with CRD phenotype; progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE and progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced 3 1 Nathalie Bax
00033670 - PubMed: Bax 2015 2-generation family, 2 affecteds (F, M), unaffected carrier parents, patient GII2 F no Netherlands - - - - - STGD Stargardt with CRD phenotype; progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE and progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced 2 3 Nathalie Bax
00033671 - PubMed: Bax 2015 4-generation family, 3 affecteds, 6 unaffected heterozygous carriers, patient AIV2 F no Netherlands - - - - - STGD Stargardt with CRD phenotype;progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE and progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced 2 1 Nathalie Bax
00033672 - PubMed: Bax 2015 patient AIV1 M no Netherlands - - - - - CORD cone-rod dystrophy (HP:0000510); progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced 2 1 Nathalie Bax
00033673 - PubMed: Bax 2015 patient AIII3 M - Netherlands - - - - - STGD progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE 1 1 Nathalie Bax
00033674 - PubMed: Bax 2015 2-generation family, 1 affected, unaffected heterozygous parents F - Netherlands - - - - - COD - 2 1 Nathalie Bax
00033675 - PubMed: Bax 2015 2-generation family, 2 affecteds (F, M), unaffected parents, patient BII1 M - Netherlands - - - - - STGD progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE 2 2 Nathalie Bax
00033676 - PubMed: Bax 2015 2-generation family, 2 affected (F, M), unaffected parents, patient CII1 M no Netherlands - - - - - STGD progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE 2 2 Nathalie Bax
00033677 - PubMed: Bax 2015 2-generation family, 1 affected, unaffected heterozygous parents M no Netherlands - - - - - STGD progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE 2 1 Nathalie Bax
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 2 1 Nathalie Bax
00033704 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid 3 1 Monika Oldak
00033705 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid 1 1 Monika Oldak
00033706 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid 1 1 Monika Oldak
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.