Disease #04215 (STGD (Stargardt disease (STGD)))

Official abbreviation STGD
Name Stargardt disease (STGD)
OMIM ID -
Inheritance -
Individuals reported having this disease 199
Phenotype entries for this disease 186
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-02-27 20:01:12 +01:00 (CET)
Date last edited N/A


Individuals

199 entries on 2 pages. Showing entries 1 - 100.
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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 ABCA4 ABCA4 2 23 Miriam Bauwens
00033639 - PubMed: Bauwens 2014 - F no Belgium Belgian - - - - STGD - ABCA4 ABCA4 2 1 Miriam Bauwens
00033640 - PubMed: Bauwens 2014 - F no - Arab - - - - STGD - ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 2 1 Johan den Dunnen
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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 1 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 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 ABCA4 ABCA4 1 1 Monika Oldak
00033707 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 1 1 Monika Oldak
00033708 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 1 1 Monika Oldak
00033709 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 1 1 Monika Oldak
00033711 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 1 1 Monika Oldak
00033712 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 1 1 Monika Oldak
00033713 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 1 1 Monika Oldak
00033714 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 2 1 Monika Oldak
00033715 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 1 1 Monika Oldak
00033716 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 1 1 Monika Oldak
00033717 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 2 1 Monika Oldak
00033718 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 2 1 Monika Oldak
00033719 - PubMed: Sciezyiska 2015 - - - Poland - - - - - STGD Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid ABCA4 ABCA4 1 1 Monika Oldak
00038201 - PubMed: Strom 2012 - M no United States American - - - - STGD No peripapillary sparing/flecks, irregular geographic atrophy with RPE changes, thickening on OCT CRB1 CRB1 2 1 Frans Cremers
00080784 - Haer-Wigman 2016 - - no - - - - - - STGD - - ABCA4 2 1 Lonneke Haer-Wigman
00080785 - Haer-Wigman 2016 - ? no - - - - - - STGD - - ABCA4 2 1 Lonneke Haer-Wigman
00080787 - Haer-Wigman 2016 - ? no - - - - - - STGD - - ABCA4 2 1 Lonneke Haer-Wigman
00080789 - - - ? no - - - - - - STGD - - ABCA4 2 1 Lonneke Haer-Wigman
00164649 29162642-Pat1 PubMed: Sangermano 2018 - F no - - - - - - STGD extensive areas retinal pigment epithelium atrophy throughout posterior pole, extending beyond vascular arcades ABCA4 ABCA4 2 1 Johan den Dunnen
00164650 29162642-Pat2 PubMed: Sangermano 2018 - M - - - - - - - STGD 22y-reduced visual acuity; extensive areas retinal pigment epithelium atrophy throughout posterior pole, extending beyond vascular arcades; 35y-ERG cone and rod responses significantly and equally reduced ABCA4 ABCA4 2 1 Johan den Dunnen
00164651 29162642-Pat3 PubMed: Sangermano 2018 - F - - - - - - - STGD extensive areas retinal pigment epithelium atrophy throughout posterior pole, extending beyond vascular arcades; 49y-ERG cone and rod responses significantly and equally reduced ABCA4 ABCA4 1 1 Johan den Dunnen
00170848 IRD4.0_#43 Manuscript under review (González-del Pozo et al., 2018) - M no Spain - - - - - STGD - ABCA4 ABCA4 2 1 María González-del Pozo
00207594 - - - M - - - - - - - STGD - - ABCA4 1 2 Marta de Castro-Miró
00233812 FamS1PatIII-6 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-counting vingers 3 ft L- hand motion; central scotoma (HP:0000603); medium central vision defect ABCA4 ABCA4 3 1 Terry-Lynn Young
00233821 FamS17PatII-2 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-20/200 L-20/50; central scotoma (HP:0000603); severe central vision defect; ERG rod-dec/cone-normal ABCA4 ABCA4 1 3 Terry-Lynn Young
00233822 FamS17PatII-3 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-20/30 L-counting vingers; central scotoma (HP:0000603) ABCA4 ABCA4 1 1 Terry-Lynn Young
00233823 FamS17PatII-8 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-20/400 L-20/40; central scotoma (HP:0000603); ERG rod-slight dec/cone-normal ABCA4 ABCA4 1 1 Terry-Lynn Young
00233835 FamS25PatII-2 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-20/20 L-20/25; small central scotoma (HP:0000603); no central vision defect ABCA4 ABCA4 2 1 Terry-Lynn Young
00233837 FamS27PatII-2 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-20/80 L-20/150; small central scotoma (HP:0000603); ERG rod-slight dec/cone-normal ABCA4 ABCA4 2 1 Terry-Lynn Young
00233839 FamS29PatII-2 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now L-20/20 R-20/20; central scotoma (-HP:0000603) ABCA4 ABCA4 2 1 Terry-Lynn Young
00233841 FamS4PatII-2 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-20/60 L-20/40; central scotoma (HP:0000603); ERG rod-slight dec/cone-slight dec ABCA4 ABCA4 1 2 Terry-Lynn Young
00233842 FamS4PatII-3 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-20/80 L-counting vingers; central scotoma (HP:0000603); severe central vision defect; ERG rod-slight dec/cone-slight dec ABCA4 ABCA4 1 1 Terry-Lynn Young
00233846 FamS6PatIII-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-counting vingers L-counting vingers; mild central vision defect; ERG rod-normal/cone-normal ABCA4 ABCA4 2 1 Terry-Lynn Young
00233847 FamS7PatII-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-20/400 L-20/200; central scotoma (HP:0000603); mild central vision defect; ERG rod-normal/cone-normal ABCA4 ABCA4 1 1 Terry-Lynn Young
00233850 FamS9PatIII-8 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-20/60 L-20/20; central scotoma (-HP:0000603); no central vision defect; ERG rod-normal/cone-normal ABCA4 ABCA4 1 1 Terry-Lynn Young
00233851 FamS9PatIV-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - STGD visual acuity now R-20/200 L-20/300; central scotoma (HP:0000603); medium central vision defect ABCA4 ABCA4 2 1 Terry-Lynn Young
00275683 - affected mother and child - F no Poland slavic >10y - yes - STGD HP:0007663 , HP:0000608, HP:0030500, HP:0000006 GUCY2D GUCY2D 1 1 Marzena Wojtaszewska
00320005 6007 Zixi Sun 2020, submitted - F - China - - - - - STGD - - ABCA4 2 1 Zixi Sun
00320069 6706 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 2 1 Zixi Sun
00320070 8667 Zixi Sun 2020, submitted - F - China - - - - - STGD - - ABCA4 2 1 Zixi Sun
00320202 7427 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320205 8640 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320207 7087 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 2 1 Zixi Sun
00320234 7878 Zixi Sun 2020, submitted - F - China - - - - - STGD - - ABCA4 2 1 Zixi Sun
00320235 3001 Zixi Sun 2020, submitted - F - China - - - - - STGD - - ABCA4 1 2 Zixi Sun
00320236 SRF844 Zixi Sun 2020,submitted - F - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320237 SRF982 Zixi Sun 2020, submitted - F - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320238 5312 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320239 HS04 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 1 2 Zixi Sun
00320240 6064 Zixi Sun 2020, submitted - F - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320241 4793 Zixi Sun 2020, submitted - F - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320242 2759 Zixi Sun 2020, submitted - F - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320246 5504 Zixi Sun 2020, submitted - F - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320247 6081 Zixi Sun 2020, submitted - F - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320248 6683 Zixi Sun 2020, submitted - F - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320249 2243 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320325 4014 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320326 R02 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 1 1 Zixi Sun
00320327 R03 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 2 1 Zixi Sun
00320352 3999 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 2 1 Zixi Sun
00320353 3582 Zixi Sun 2020, submitted - M - China - - - - - STGD - - ABCA4 2 1 Zixi Sun
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