
 Phenotype ID
|

 Phenotype details
|

 Diagnosis/Initial
|

 Diagnosis/Definite
|

 Inheritance
|

 Age/Examination
|

 Age/Diagnosis
|

 Age/Onset
|

 Phenotype/Onset
|

 Protein
|

 Owner
|

 Individual ID
|
0000027067 |
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 |
- |
- |
Familial, autosomal recessive |
>07y |
- |
- |
- |
- |
Miriam Bauwens |
00033638 |
0000027068 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Miriam Bauwens |
00033639 |
0000027069 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Miriam Bauwens |
00033640 |
0000027070 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Miriam Bauwens |
00033641 |
0000027071 |
Stargardt disease, severe; y57, visual acuity OD: <20/400, OS: <20/400. y42: Severe chorioretinal atrophy, macula up to periphery; macula most affected |
- |
- |
Familial, autosomal recessive |
>07y |
- |
- |
- |
- |
Miriam Bauwens |
00033642 |
0000027072 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033643 |
0000027073 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033644 |
0000027074 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033645 |
0000027075 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033646 |
0000027076 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033647 |
0000027077 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033648 |
0000027078 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033649 |
0000027079 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033650 |
0000027080 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033651 |
0000027081 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033652 |
0000027082 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033653 |
0000027083 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033654 |
0000027084 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033655 |
0000027085 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033656 |
0000027086 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033657 |
0000027087 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033658 |
0000027088 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033659 |
0000027089 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033660 |
0000027090 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033661 |
0000027091 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033662 |
0000027092 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033663 |
0000027093 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033664 |
0000027094 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033665 |
0000027095 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00033666 |
0000027097 |
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 |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Nathalie Bax |
00033668 |
0000027098 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Nathalie Bax |
00033669 |
0000027099 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Nathalie Bax |
00033670 |
0000027100 |
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 |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Nathalie Bax |
00033671 |
0000027102 |
progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Nathalie Bax |
00033673 |
0000027104 |
progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Nathalie Bax |
00033675 |
0000027105 |
progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Nathalie Bax |
00033676 |
0000027106 |
progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Nathalie Bax |
00033677 |
0000027133 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
09y |
visual deterioration, observed by patient |
- |
Monika Oldak |
00033704 |
0000027134 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
17y |
- |
- |
Monika Oldak |
00033705 |
0000027135 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
08y |
- |
- |
Monika Oldak |
00033706 |
0000027136 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
19y |
- |
- |
Monika Oldak |
00033707 |
0000027137 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
26y |
- |
- |
Monika Oldak |
00033708 |
0000027138 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
14y |
- |
- |
Monika Oldak |
00033709 |
0000027140 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
13y |
- |
- |
Monika Oldak |
00033711 |
0000027141 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
25y |
- |
- |
Monika Oldak |
00033712 |
0000027142 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
14y |
visual deterioration, observed by patient |
- |
Monika Oldak |
00033713 |
0000027143 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
20y |
visual deterioration, observed by patient |
- |
Monika Oldak |
00033714 |
0000027144 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
12y |
- |
- |
Monika Oldak |
00033715 |
0000027145 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
12y |
- |
- |
Monika Oldak |
00033716 |
0000027146 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
04y |
visual deterioration, observed by patient |
- |
Monika Oldak |
00033717 |
0000027147 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
13y |
visual deterioration, observed by patient |
- |
Monika Oldak |
00033718 |
0000027148 |
Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid |
- |
- |
Familial, autosomal recessive |
- |
- |
08y |
- |
- |
Monika Oldak |
00033719 |
0000028744 |
No peripapillary sparing/flecks, irregular geographic atrophy with RPE changes, thickening on OCT |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
severe vision impairment |
- |
Frans Cremers |
00038201 |
0000060354 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Lonneke Haer-Wigman |
00080784 |
0000060355 |
- |
- |
- |
Unknown |
- |
23y |
- |
- |
- |
Lonneke Haer-Wigman |
00080785 |
0000060357 |
- |
- |
- |
Familial, autosomal recessive |
- |
20y |
- |
- |
- |
Lonneke Haer-Wigman |
00080787 |
0000060358 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Lonneke Haer-Wigman |
00080789 |
0000129686 |
extensive areas retinal pigment epithelium atrophy throughout posterior pole, extending beyond vascular arcades |
Stargardt disease, typical |
STGD-1 |
Familial, autosomal recessive |
40y |
16y |
- |
- |
- |
Johan den Dunnen |
00164649 |
0000129687 |
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 |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
37y |
35y |
- |
- |
- |
Johan den Dunnen |
00164650 |
0000129688 |
extensive areas retinal pigment epithelium atrophy throughout posterior pole, extending beyond vascular arcades; 49y-ERG cone and rod responses significantly and equally reduced |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
53y |
49y |
- |
- |
- |
Johan den Dunnen |
00164651 |
0000135709 |
- |
- |
- |
Familial, autosomal recessive |
34y |
- |
10y |
- |
- |
María González-del Pozo |
00170848 |
0000155405 |
- |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Marta de Castro-Miró |
00207594 |
0000174247 |
visual acuity now R-counting vingers 3 ft L- hand motion; central scotoma (HP:0000603); medium central vision defect |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
75y |
45y |
- |
- |
- |
Terry-Lynn Young |
00233812 |
0000174253 |
visual acuity now R-20/200 L-20/50; central scotoma (HP:0000603); severe central vision defect; ERG rod-dec/cone-normal |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
62y |
39y |
- |
- |
- |
Terry-Lynn Young |
00233821 |
0000174254 |
visual acuity now R-20/30 L-counting vingers; central scotoma (HP:0000603) |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
63y |
46y |
- |
- |
- |
Terry-Lynn Young |
00233822 |
0000174255 |
visual acuity now R-20/400 L-20/40; central scotoma (HP:0000603); ERG rod-slight dec/cone-normal |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
52y |
41y |
- |
- |
- |
Terry-Lynn Young |
00233823 |
0000174262 |
visual acuity now R-20/20 L-20/25; small central scotoma (HP:0000603); no central vision defect |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
36y |
34y |
- |
- |
- |
Terry-Lynn Young |
00233835 |
0000174264 |
visual acuity now R-20/80 L-20/150; small central scotoma (HP:0000603); ERG rod-slight dec/cone-normal |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
50y |
- |
- |
- |
- |
Terry-Lynn Young |
00233837 |
0000174265 |
visual acuity now L-20/20 R-20/20; central scotoma (-HP:0000603) |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
47y |
45y |
- |
- |
- |
Terry-Lynn Young |
00233839 |
0000174266 |
visual acuity now R-20/60 L-20/40; central scotoma (HP:0000603); ERG rod-slight dec/cone-slight dec |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
56y |
52y |
- |
- |
- |
Terry-Lynn Young |
00233841 |
0000174267 |
visual acuity now R-20/80 L-counting vingers; central scotoma (HP:0000603); severe central vision defect; ERG rod-slight dec/cone-slight dec |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
66y |
47y |
- |
- |
- |
Terry-Lynn Young |
00233842 |
0000174269 |
visual acuity now R-counting vingers L-counting vingers; mild central vision defect; ERG rod-normal/cone-normal |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
63y |
23y |
- |
- |
- |
Terry-Lynn Young |
00233846 |
0000174270 |
visual acuity now R-20/400 L-20/200; central scotoma (HP:0000603); mild central vision defect; ERG rod-normal/cone-normal |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
56y |
26y |
- |
- |
- |
Terry-Lynn Young |
00233847 |
0000174272 |
visual acuity now R-20/60 L-20/20; central scotoma (-HP:0000603); no central vision defect; ERG rod-normal/cone-normal |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
46y |
29y |
- |
- |
- |
Terry-Lynn Young |
00233850 |
0000174273 |
visual acuity now R-20/200 L-20/300; central scotoma (HP:0000603); medium central vision defect |
Stargardt disease |
STGD-1 |
Familial, autosomal recessive |
21y |
15y |
- |
- |
- |
Terry-Lynn Young |
00233851 |
0000210288 |
HP:0007663 , HP:0000608, HP:0030500, HP:0000006 |
genetic-based macular degeneration |
STGD |
Familial |
10y? |
10y |
- |
- |
- |
Marzena Wojtaszewska |
00275683 |
0000242114 |
- |
STGD |
STGD |
Familial, autosomal recessive |
15y |
- |
09y |
- |
- |
Zixi Sun |
00320069 |
0000242115 |
- |
STGD |
STGD |
Familial, autosomal recessive |
41y |
- |
- |
- |
- |
Zixi Sun |
00320070 |
0000242245 |
- |
CORD |
CORD |
Familial, autosomal recessive |
09y |
- |
06y |
- |
- |
Zixi Sun |
00320199 |
0000242248 |
- |
STGD |
STGD |
Familial, autosomal recessive |
13y |
- |
07y |
- |
- |
Zixi Sun |
00320202 |
0000242249 |
- |
CORD |
CORD |
Familial, autosomal recessive |
11y |
- |
09y |
- |
- |
Zixi Sun |
00320203 |
0000242251 |
- |
STGD |
STGD |
Familial, autosomal recessive |
10y |
- |
09y |
- |
- |
Zixi Sun |
00320205 |
0000242253 |
- |
STGD |
STGD |
Familial, autosomal recessive |
33y |
- |
10y |
- |
- |
Zixi Sun |
00320207 |
0000242285 |
- |
STGD |
STGD |
Familial, autosomal recessive |
34y |
- |
13y |
- |
- |
Zixi Sun |
00320234 |
0000242286 |
- |
STGD |
STGD |
Familial, autosomal recessive |
11y |
- |
07y |
- |
- |
Zixi Sun |
00320235 |
0000242287 |
- |
STGD |
STGD |
Familial, autosomal recessive |
47y |
- |
07y |
- |
- |
Zixi Sun |
00320236 |
0000242288 |
- |
STGD |
STGD |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Zixi Sun |
00320237 |
0000242289 |
- |
STGD |
STGD |
Familial, autosomal recessive |
17y |
- |
07y |
- |
- |
Zixi Sun |
00320238 |
0000242290 |
- |
STGD |
STGD |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Zixi Sun |
00320239 |
0000242291 |
- |
STGD |
STGD |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Zixi Sun |
00320240 |
0000242292 |
- |
STGD |
STGD |
Familial, autosomal recessive |
30y |
- |
12y |
- |
- |
Zixi Sun |
00320241 |
0000242293 |
- |
STGD |
STGD |
Familial, autosomal recessive |
27y |
- |
23y |
- |
- |
Zixi Sun |
00320242 |
0000242295 |
- |
STGD |
STGD |
Familial, autosomal recessive |
11y |
- |
08y |
- |
- |
Zixi Sun |
00320246 |
0000242296 |
- |
STGD |
STGD |
Familial, autosomal recessive |
15y |
- |
09y |
- |
- |
Zixi Sun |
00320247 |
0000242297 |
- |
STGD |
STGD |
Familial, autosomal recessive |
57y |
- |
47y |
- |
- |
Zixi Sun |
00320249 |
0000242339 |
- |
STGD |
STGD |
Familial, autosomal recessive |
66y |
- |
07y |
- |
- |
Zixi Sun |
00320325 |
0000242340 |
- |
STGD |
STGD |
Familial, autosomal recessive |
67y |
- |
- |
- |
- |
Zixi Sun |
00320326 |
0000242341 |
- |
STGD |
STGD |
Familial, autosomal recessive |
40y |
- |
09y |
- |
- |
Zixi Sun |
00320327 |
0000242365 |
- |
STGD |
STGD |
Familial, autosomal recessive |
39y |
- |
12y |
- |
- |
Zixi Sun |
00320352 |
0000242366 |
- |
STGD |
STGD |
Familial, autosomal recessive |
52y |
- |
10y |
- |
- |
Zixi Sun |
00320353 |