Disease #00058

Official abbreviation CORD
Name dystrophy, cone-rod (CORD)
OMIM ID 600624
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 325
Phenotype entries for this disease 326
Associated with 0 genes -
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325 entries on 4 pages. Showing entries 1 - 100.
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00000210 - - - - - (Saudi Arabia) - - - - - CORD - MKS1 MKS1 1 1 Leen Abu Safieh
00016848 - PubMed: El Shamieh 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib M yes ? (unknown) African, north, Sephardic Jewish - 0 - - CORD RCD diagnosed in late teens; 35y-night blindness followed by changes in midperipheral visual fields/undetectable responses in full-field electroretinogram by approximately; 50y-overweight, complained of moderate hearing difficulties; best-corrected visual acuity 20/800 (R), 20/640 (L); kinetic visual-field test revealed decreased central retinal sensitivity, bilateral peripheral-field constriction; typical RCD fundus changeswith additional macular thinning KIZ KIZ 1 1 Marianne Vos (LOVD-team)
00017031 - PubMed: El Shamieh 2014 2-generation family, 1 affected, unaffected parents M yes Spain Spanish - 0 - - CORD BCVA 20/20 both eyes; annular scotoma in the midperiphery; preservation of the peripheral isopter; Typical RCD fundus changes with macular preservation. KIZ KIZ 1 1 Marianne Vos (LOVD-team)
00017032 - PubMed: El Shamieh 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? France Italian - 0 - - CORD Well tolerated congenital ichthyosis; BCVA was 20/40 right eye; 20/32 left; A binocular kinetic visual field was reduced to the central 10 with bitemporal islands of perception peripherally. Typical RCD Fundus changes with relative macular preservation KIZ KIZ 2 1 Marianne Vos (LOVD-team)
00032731 - PubMed: Sharon 2003 - - - - - - 0 - - CORD - NR2E3 NR2E3 1 1 Pascal Escher
00032732 - PubMed: Bernal 2008 - - - Spain Spanish - 0 - - CORD - NR2E3 NR2E3 1 2 Pascal Escher
00032750 - PubMed: Sharon 2003 2 families, 2 cases - - - - - 0 - - CORD - NR2E3 NR2E3 1 2 Pascal Escher
00032765 - PubMed: Sharon 2003 2 families, 3 cases - - - - - 0 - - CORD - NR2E3 NR2E3 2 3 Pascal Escher
00032768 - PubMed: Sharon 2003 - - - - - - 0 - - CORD - NR2E3 NR2E3 2 1 Pascal Escher
00032772 - PubMed: Sharon 2003 2 families, 2 cases - - - - - 0 - - CORD - NR2E3 NR2E3 2 2 Pascal Escher
00032831 - PubMed: Pras 2009 - - - - Arabic - 0 - - CORD - PROM1 PROM1 1 3 Pascal Escher
00033038 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset CRB1 CRB1 1 1 Johan den Dunnen
00033040 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset CRB1 CRB1 1 1 Johan den Dunnen
00033045 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset CRB1 CRB1 2 1 Johan den Dunnen
00033046 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset CRB1 CRB1 2 1 Johan den Dunnen
00033047 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset, retinal telangiectasia, retinitis pigmentosa CRB1 CRB1 2 1 Johan den Dunnen
00033048 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset, retinal telangiectasia, retinitis pigmentosa CRB1 CRB1 2 1 Johan den Dunnen
00033049 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset, retinal telangiectasia, retinitis pigmentosa CRB1 CRB1 2 1 Johan den Dunnen
00033050 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset, retinal telangiectasia, retinitis pigmentosa CRB1 CRB1 2 1 Johan den Dunnen
00033051 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset, retinal telangiectasia, retinitis pigmentosa CRB1 CRB1 2 1 Johan den Dunnen
00033052 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset, retinal telangiectasia, retinitis pigmentosa CRB1 CRB1 2 1 Johan den Dunnen
00033055 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset CRB1 CRB1 2 1 Johan den Dunnen
00033057 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset CRB1 CRB1 2 1 Johan den Dunnen
00033063 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset CRB1 CRB1 2 1 Johan den Dunnen
00033072 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset CRB1 CRB1 2 1 Johan den Dunnen
00033073 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset CRB1 CRB1 2 1 Johan den Dunnen
00033074 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset CRB1 CRB1 2 1 Johan den Dunnen
00033075 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset, retinal telangiectasia CRB1 CRB1 2 1 Johan den Dunnen
00033078 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - CORD early onset, retinal telangiectasia CRB1 CRB1 2 1 Johan den Dunnen
00033361 - - - - - - - - 0 - - CORD - RPGRIP1 RPGRIP1 2 1 Leen Abu Safieh
00033369 - - 2 generation family 1 affected, 2 unaffected carrier parents M no Pakistan - - 0 - - CORD Fundus granularity, macular degeneration and peripheral retinal pigmentation; Onset Progressive loss of visual acuity and colour vision, night blindness, photophobia and epiphora in bright light SEMA4A SEMA4A 2 1 Raheel Qamar
00033370 - - - ? ? Pakistan - - 0 - - CORD Fundus granularity, macular degeneration and peripheral retinal pigmentation; Onset Progressive loss of visual acuity and colour vision, night blindness, photophobia and epiphora in bright light SEMA4A SEMA4A 2 1 Raheel Qamar
00033605 - - - - - - - - 0 - - CORD Cone-rod dystrophy with nystagmus RPGRIP1 RPGRIP1 2 1 Marcel Nelen
00033611 - - - - yes - (not applicable) - - 0 - - CORD cone-rod dystrophy with polydactyly C8orf37 C8orf37 2 1 Kornelia Neveling
00033612 - - - - yes - (not applicable) - - 0 - - CORD - C8orf37 C8orf37 2 1 Kornelia Neveling
00033667 - PubMed: Bax 2015 2-generation family, 1 affected, unaffected parents M - Netherlands - - 0 - - CORD CRD; progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced ABCA4 ABCA4 2 1 Nathalie Bax
00033672 - PubMed: Bax 2015 patient AIV1 M no Netherlands - - 0 - - CORD cone-rod dystrophy (HP:0000510); progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced ABCA4 ABCA4 2 1 Nathalie Bax
00033710 - PubMed: Sciezyiska 2015 - - - Poland - - 0 - - CORD cone-rod dystrophy (HP:0000510); bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced. ABCA4 ABCA4 2 1 Monika Oldak
00034520 - - - - yes Pakistan Multan - 0 - - CORD cone-rod dystrophy CNGA3 CNGA3 1 1 Zubair Ahmed
00038286 - PubMed: Khan 2013 4 generation family, 3 affecetd F yes Saudi Arabia Arab - 0 - - CORD childhood cone-rod dystrophy and macular cystic degeneration CRB1 CRB1 1 3 Frans Cremers
00038287 - PubMed: Khan 2013 4 generation family, 3 affecetd M yes Saudi Arabia Arab - 0 - - CORD childhood cone-rod dystrophy and macular cystic degeneration CRB1 CRB1 1 3 Frans Cremers
00038288 - PubMed: Khan 2013 4 generation family, 3 affecetd M yes Saudi Arabia Arab - 0 - - CORD childhood cone-rod dystrophy and macular cystic degeneration CRB1 CRB1 1 3 Frans Cremers
00038347 - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - 0 - - CORD ? CRB1 CRB1 2 2 Frans Cremers
00046458 - PubMed: Lazar 2015; Journal: Lazar 2015 3-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents/sister F - Israel Arab, Muslim - 0 - - CORD, LGMD-2B see paper; ..., visual loss (HP:0000572), photophobia (HP:0000613), pendular nystagmus (HP:0012043), rod-cone dystrophy (HP:0000510) ALMS1, DYSF ALMS1, DYSF 3 2 Csilla Lazar
00052445 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - 0 - - CORD cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected RPE65 RPE65 1 1 Muhammad Ajmal
00052446 - PubMed: Kabir 2013 - M yes Pakistan Pakistani - 0 - - CORD cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected RPE65 RPE65 1 1 Muhammad Ajmal
00052447 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - 0 - - CORD cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected RPE65 RPE65 1 1 Muhammad Ajmal
00052448 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - 0 - - CORD cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected RPE65 RPE65 1 1 Muhammad Ajmal
00052617 - PubMed: Bereta 2008 - ? no ? (unknown) - - 0 - - CORD cone-rod dystrophy RPE65 RPE65 1 1 Muhammad Ajmal
00052619 - PubMed: Bereta 2008 - ? no ? (unknown) - - 0 - - CORD cone-rod dystrophy RPE65 RPE65 1 1 Muhammad Ajmal
00052755 - PubMed: Lorenz 2000 2-generation family,1 affected F no Germany Dutch - 0 - - CORD cone-rod dystrophy; pale optic disc, bull's eye maculopathy, thin retinal arteries, and increased granularity of the RPE in the periphery RPE65 RPE65 2 1 Muhammad Ajmal
00052756 - PubMed: Lorenz 2000 - M no Germany Dutch - 0 - - CORD cone-rod dystrophy; slightly increased granularity in the macula, together with decreased muscular reflex, minimal thinning of the retinal arteries and increased granularity of the RPE in the periphery, together with a very blond fundus in the circumpapillary area RPE65 RPE65 3 1 Muhammad Ajmal
00052757 - PubMed: Lorenz 2000 3-generation family, 2 affected M no Germany Dutch - 0 - - CORD cone-rod dystrophy; slightly pale optic disc, slightly increased granularity in the macula, and normal retinal vessels. RPE65 RPE65 2 1 Muhammad Ajmal
00052758 - PubMed: Lorenz 2000 3-generation family, 2 affected F no Germany Dutch - 0 - - CORD cone-rod dystrophy; clearly increased granularity of the RPE in the periphery, normal retinal vessels RPE65 RPE65 2 1 Muhammad Ajmal
00059790 - - - - - - - - 0 - - CORD - CNNM4 CNNM4 1 1 Leen Abu Safieh
00059794 - - - - - - - - 0 - - CORD - C21orf2 C21orf2 1 1 Leen Abu Safieh
00059796 - - - - - - - - 0 - - CORD spastic paraparesis, white matter disease ACBD5 ACBD5 1 1 Leen Abu Safieh
00074439 - - - ? no Greece Greek - 0 - - CORD - - CEP78 1 1 Konstantinos Nikopoulos
00074440 - - - - no Sweden Swedish - 0 - - CORD - - CEP78 2 1 Konstantinos Nikopoulos
00074490 - - the individual diagnoised with CORD+SNHL (cone-rod degeneration with sensorineural hearing loss) F yes - oriental jew - 0 - - CORD diagnoised with CORD+SNHL (cone-rod degeneration with sensorineural hearing loss) CEP78 CEP78 1 1 Prasanthi Namburi
00074708 - PubMed: Glockle 2014 - ? ? - ? - 0 - - CORD cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074709 - PubMed: Glockle 2014 - ? ? - ? - 0 - - CORD cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548) ABCA4 ABCA4 3 1 Stéphanie Cornelis
00074710 - PubMed: Glockle 2014 - ? ? - ? - 0 - - CORD cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074711 - PubMed: Glockle 2014 - ? ? - ? - 0 - - CORD cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074727 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074728 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074729 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074730 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074731 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074732 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074733 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074734 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074735 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074736 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074737 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074738 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074739 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074740 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074741 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074742 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074743 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074744 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074745 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074746 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074747 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074748 - PubMed: Alapati 2014 - ? ? United States American - 0 - - CORD cone-rod dystrophy (HP:0000510) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074801 - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - 0 - - CORD cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074802 - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - 0 - - CORD cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074803 - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - 0 - - CORD cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074804 - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - 0 - - CORD cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074805 - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - 0 - - CORD cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074806 - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - 0 - - CORD cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074807 - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - 0 - - CORD cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074831 - PubMed: Briggs 2001 2-generation family, 1 affected M ? - ? - 0 - - CORD cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074837 - PubMed: Briggs 2001 - ? ? - ? - 0 - - CORD cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074841 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - 0 - - CORD cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) ABCA4 ABCA4 2 1 Stéphanie Cornelis
00074845 - PubMed: Briggs 2001 - ? ? - ? - 0 - - CORD cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074907 - PubMed: Briggs 2001 2-generation family, 3 affected F yes - ? - 0 - - CORD cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074908 - PubMed: Briggs 2001 Sibling from 032-030; 2-generation family, 3 affected M yes - ? - 0 - - CORD cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) ABCA4 ABCA4 1 1 Stéphanie Cornelis
00074909 - PubMed: Briggs 2001 Sibling from 032-030; 2-generation family, 3 affected M yes - ? - 0 - - CORD cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) ABCA4 ABCA4 1 1 Stéphanie Cornelis
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