Phenotypes for disease #04215

76 entries on 1 page. Showing entries 1 - 76.
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Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

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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
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