All individuals with variants in gene GUCA1A

247 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     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     
00033100 - - - F - - - - - - - retinal disease - 1 1 Kornelia Neveling
00033133 - - - M - - - - - - - retinal disease retinal degeneration, severe, early onset (EOSRD) 1 1 Kornelia Neveling
00240437 - - - F - Mexico - - - - - RD - 1 1 Juan Carlos Zenteno
00294107 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 58 Mohammed Faruq
00305101 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00308386 CIC06352 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00325448 2996 PubMed: Zenteno 2020 - - - Mexico - - - - - retinal disease cone-rod dystrophy 1 1 Johan den Dunnen
00327907 B240001 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00328060 G002631 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00328100 G005202 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00328220 G007746 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00328460 15017066 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - retinal disease cone/cone-rod dystrophy (HP:0000548) 1 1 LOVD
00331294 Fam18 PubMed: Wawrocka 2018 - - - Poland - - - - - retinal disease - 1 1 LOVD
00332038 Pat176 PubMed: Birtel 2018 family F - Germany - - - - - retinal disease reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline 1 1 LOVD
00332039 Pat177 PubMed: Birtel 2018 family M - Germany - - - - - retinal disease reduced visual acuity; scotopic ERG not analyzable; photopic ERG borderline 1 1 LOVD
00332040 Pat178 PubMed: Birtel 2018 family F - Germany - - - - - retinal disease reduced visual acuity; scotopic ERG normalreduced; photopic ERG extinguished 1 1 LOVD
00332198 JB185 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 1 1 LOVD
00333381 RD13–01 PubMed: Wang 2017 - - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00333419 RD1–12 PubMed: Wang 2017 - - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00333420 RD11–05 PubMed: Wang 2017 - - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00333584 293 PubMed: Stone 2017 family, 4 affected M - (United States) - - - - - retinal disease clinical category IA1aiv 1 4 LOVD
00333626 381 PubMed: Stone 2017 family, 12 affected F - (United States) - - - - - retinal disease clinical category IA1bii 1 12 LOVD
00333627 382 PubMed: Stone 2017 family, 12 affected M - (United States) - - - - - retinal disease clinical category IA1bii 1 12 LOVD
00333628 383 PubMed: Stone 2017 1 affected F - (United States) - - - - - retinal disease clinical category IA1bii 1 1 LOVD
00333629 384 PubMed: Stone 2017 family, 4 affected F - (United States) - - - - - retinal disease clinical category IA1bii 1 4 LOVD
00333630 385 PubMed: Stone 2017 family, 4 affected F - (United States) - - - - - retinal disease clinical category IA1bii 1 4 LOVD
00333636 469 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IA2e 1 1 LOVD
00359134 12002573 PubMed: Ellingford 2016 patient - - - - - - - - retinal disease - 1 1 LOVD
00362066 QT580 PubMed: Huang 2016 - - - China - - - - - retinal disease - 1 1 Johan den Dunnen
00362067 QT946 PubMed: Huang 2013, PubMed: Huang 2016 4-generation family, 9 affected (8f, M) F;M - China - - - - - retinal disease - 1 1 Johan den Dunnen
00362894 MB54 PubMed: Weisschuh 2016 family - - Germany - - - - - retinal disease see paper; ... 1 1 LOVD
00372691 RP235 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00382311 140 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00382312 141 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00387622 4 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - retinal disease - 2 1 LOVD
00388035 7 PubMed: Wang 2016 - F - United States - - - - - retinal disease , Retinal dystrophy 1 1 LOVD
00389207 491 PubMed: Weisschuh 2020 Filing key number: 163, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389208 492 PubMed: Weisschuh 2020 Filing key number: 163, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389729 1013 PubMed: Weisschuh 2020 Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389730 1014 PubMed: Weisschuh 2020 Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389731 1015 PubMed: Weisschuh 2020 Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389732 1016 PubMed: Weisschuh 2020 Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389818 1102 PubMed: Weisschuh 2020 Filing key number: 743, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389819 1103 PubMed: Weisschuh 2020 Filing key number: 743, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00390275 G002631 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00390276 G005202 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00390277 G007746 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00391009 - PubMed: Maggi_2021 - M - Switzerland - - - - - retinal disease - 1 1 LOVD
00391161 123 PubMed: Gliem 2020 - F - (Germany) - - - - - retinal disease - 1 1 LOVD
00391162 124 PubMed: Gliem 2020 - M - (Germany) - - - - - retinal disease - 1 1 LOVD
00391163 125 PubMed: Gliem 2020 - M - (Germany) - - - - - retinal disease - 1 1 LOVD
00391164 126 PubMed: Gliem 2020 - M - (Germany) - - - - - retinal disease - 1 1 LOVD
00393648 - PubMed: Liu-2020 - M - - - - - - - retinal disease - 1 1 LOVD
00393667 - PubMed: Liu-2020 - M - - - - - - - retinal disease - 1 1 LOVD
00406297 ZD1_IV:7 PubMed: Zobor 2014 family ZD1, individual IV:7 F - Germany - - - - - retinal disease best corrected visual acuity right/left eye: 0.04; 0.04, refraction: +2.25 sph -0.5 cyl 160deg +2.75 sph, progressive, severe color confusions 1 1 LOVD
00406298 ZD1_IV:12 PubMed: Zobor 2014 family ZD1, individual IV:12 F - Germany - - - - - retinal disease best corrected visual acuity right/left eye: 0.7; 0.5, refraction: +4.0 sph -2.5 cyl 2deg +3.75 sph -2.5 cyl 7deg, progressive, tritan defect 1 1 LOVD
00406299 ZD1_IV:13 PubMed: Zobor 2014 family ZD1, individual IV:13 F - Germany - - - - - retinal disease best corrected visual acuity right/left eye: 0.1; 0.08, refraction: +3.25 sph -2.5 cyl 2deg +2.5 sph -0.75 cyl 97deg, progressive, severe color confusions 1 1 LOVD
00406300 ZD1_V:5 PubMed: Zobor 2014 family ZD1, individual V:5 M - Germany - - - - - retinal disease best corrected visual acuity right/left eye: 0.3; 0.2, refraction: +4.0 sph -0.75 cyl 45deg +3.5 sph -0.5 cyl 127deg, progressive, tritan-tetartan defect, Brown syndrome 1 1 LOVD
00406360 ? PubMed: Kohl 2012 - ? - Germany - - - - - retinal disease - 1 1 LOVD
00406361 ? PubMed: Kohl 2012 - ? - Germany - - - - - retinal disease - 1 1 LOVD
00406362 ? PubMed: Kohl 2012 - ? - Germany - - - - - retinal disease - 1 1 LOVD
00406363 ? PubMed: Kohl 2012 - ? - Germany - - - - - retinal disease - 1 1 LOVD
00413256 A I/1 PubMed: Downes 2001 Family A M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/200; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal for age, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: decreased, OFF: decreased 1 1 LOVD
00413257 A II/1 PubMed: Downes 2001 Family A M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/200; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: decreased, OFF: decreased 1 1 LOVD
00413258 A II/9 PubMed: Downes 2001 Family A F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/120, 20/120; electro-oculogram: normal; electroretinograms: pattern: decreased, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decraased, implicit time: normal; pathway response, ON: decreased, OFF: decreased 1 1 LOVD
00413259 A II/11 PubMed: Downes 2001 Family A F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/200; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: decreased, OFF: decreased 1 1 LOVD
00413260 A III/2 PubMed: Downes 2001 Family A M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/40, 20/60; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: decreased, OFF: decreased 1 1 LOVD
00413261 A III/4 PubMed: Downes 2001 Family A M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/120, 20/120; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: decreased, OFF: decreased 1 1 LOVD
00413262 A IV/2 PubMed: Downes 2001 Family A F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/30, 20/30; electro-oculogram: normal; electroretinograms: pattern: decreased, right eye, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: normal, implicit time: normal; pathway response, ON: normal, OFF: normal 1 1 LOVD
00413263 B IV/1 PubMed: Downes 2001 Family B, mutation found also in 3 other family members, not sepcified F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/120, 20/120; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: normal, implicit time: normal; pathway response, ON: not performed, OFF: not performed 1 1 LOVD
00413264 C II/3 PubMed: Downes 2001 Family C F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/30, 20/30; electro-oculogram: normal; electroretinograms: pattern: decreased, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: normal, implicit time: normal; pathway response, ON: not performed, OFF: not performed 1 1 LOVD
00413265 C III/2 PubMed: Downes 2001;PubMed: Mahroo 2019 Family C, proband; re-evaluated in PubMed: Mahroo 2019 due to his daughter's phenotype matching the X-linked dominant inheritance M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/40, 20/40; electro-oculogram: not performed; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: not performed, OFF: not performed 1 1 LOVD
00413266 C III/10 (IV/3) PubMed: Downes 2001;PubMed: Mahroo 2019 Family C F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/60, 20/40; electro-oculogram: extinguished light rise; electroretinograms: pattern: absent, rod: amplitude decreased, implicit time normal, bright white flash: amplitude decreased, implicit time normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: increased; pathway response, ON: not performed, OFF: not performed 1 1 LOVD
00413267 III:10 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413268 III:13 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413269 III:20 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413270 III:21 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413271 III:23 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413272 III:24 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413273 III:26 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413274 IV:2 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413275 IV:6 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413276 IV:7 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413277 IV:8 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413278 IV:11 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413279 IV:12 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413280 IV:16 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413281 IV:19 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413282 IV:20 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413283 IV:25 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413284 IV:28 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413285 IV:30 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413286 IV:32 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413287 IV:36 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413288 IV:37 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413289 IV:39 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413290 V:4 PubMed: Wilkie_2001 Family with 33 affected individuals M - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413291 V:6 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes; individual V:6 electroretinograms: under standard stimulation and recording conditions: amplitude of the b-wave: normal; response of the dark-adapted eye to a high-intensity stimulus flash: negative-polarity a-wave: normal, positive b-wave - at or slightly below the normal range; light-adapted conditions to isolate the cone response: amplitude of the cone electroretinogram falls well below the lower limit of the normal range 1 1 LOVD
00413292 V:16 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
00413293 V:18 PubMed: Wilkie_2001 Family with 33 affected individuals F - United States white - - - - retinal disease general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes 1 1 LOVD
Legend   How to query   « First ‹ Prev     1 2 3     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.