Disease #01680 (BCD (dystrophy, corneoretinal, crystalline, Bietti (BCD)), OMIM:210370)

Official abbreviation BCD
Name dystrophy, corneoretinal, crystalline, Bietti (BCD)
OMIM ID 210370
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 419
Phenotype entries for this disease 419
Associated with 1 gene CYP4V2
Associated tissues eyes
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

419 entries on 5 pages. Showing entries 1 - 100.
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00081136 - - - ? - - unknown >76y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081137 - - - M ? - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081138 - - - M ? - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081139 - - - F - - Chinese >39y - - - BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081141 - - - F - - Chinese >38y - - - BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081143 - - - M - - Chinese >47y - - - BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081145 - - - M - - Chinese >35y - - - BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081147 - - - F - - white >35y - - - BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081149 - - - M - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081150 - - - F - - - >33y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081151 - - - M - - Korean - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081153 - - - M - - Palestinian Arabic - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081154 - - - M - - Chinese >47y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081156 - - - ? - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081157 - - - - - - white >64y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081158 - - - ? - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081160 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081161 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081163 - - - F - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081165 - - - F - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081166 - - - M - - Chinese >14y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081167 - - - - - - white >41y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081168 - - - - - - white >33y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081169 - - - - - - white >34y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081170 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081171 - - - M - - Chinese >30y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081173 - - - F - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081175 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081176 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081177 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081178 - - - F - - Korean >56y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081179 - - - F - - Chinese >47y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081180 - - - - - - Chinese - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081181 - - - F - - Chinese >35y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081182 - - - M - - - >43y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081183 - - - - - - Korean - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081185 - - - - - - Korean - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081187 - - - - - - - >61y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081189 - - - F - - Chinese >39y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081191 - - - F - - Chinese >51y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081193 - - - M - - Chinese >33y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081195 - - - F - - Chinese >43y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081197 - - - F - - Chinese >39y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081199 - - - M - - Chinese >48y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081200 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081201 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081203 - - - M - - Chinese >26y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081205 - - - M - - Chinese >40y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081207 - - - M - - Chinese >41y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081208 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081209 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081210 - - - F - - white >48y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081211 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081214 - - - F - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00081215 - - - F - - white >56y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081217 - - - F - - white >54y - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 2 1 James Hejtmancik
00081219 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy CYP4V2 CYP4V2 1 1 James Hejtmancik
00089069 - PubMed: Li 2004, Journal: Li 2004 3-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents F - - Chinese - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 2 3 Johan den Dunnen
00089070 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089071 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089072 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089073 - PubMed: Li 2004, Journal: Li 2004 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F yes - Japanese - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089074 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089075 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089076 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089077 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089078 - PubMed: Li 2004, Journal: Li 2004 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - - European - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 1 2 Johan den Dunnen
00089079 - PubMed: Li 2004, Journal: Li 2004 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - European - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 2 2 Johan den Dunnen
00089080 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - CYP4V2 CYP4V2 2 1 Johan den Dunnen
00089081 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089082 - PubMed: Li 2004, Journal: Li 2004 - - - - European - - - - BCD lipid inclusions in lymphocytes CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089083 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089084 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - CYP4V2 CYP4V2 2 1 Johan den Dunnen
00089085 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD - CYP4V2 CYP4V2 2 1 Johan den Dunnen
00089086 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089087 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD - CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089088 - PubMed: Li 2004, Journal: Li 2004 - - - - European - - - - BCD - CYP4V2 CYP4V2 2 1 Johan den Dunnen
00089089 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - CYP4V2 CYP4V2 1 1 Johan den Dunnen
00089090 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - CYP4V2 CYP4V2 2 1 Johan den Dunnen
00089091 - PubMed: Li 2004, Journal: Li 2004 - - - - European - - - - BCD - CYP4V2 CYP4V2 2 1 Johan den Dunnen
00245312 - 3078127 eyeGENE participant M - United States - - - - - BCD - CHM CHM 1 1 Kerry Goetz
00245318 - 1569506 eyeGENE participant M - United States - - - - - BCD - CHM CHM 1 1 Kerry Goetz
00245321 - - eyeGENE participant F - United States - - - - - BCD - CHM CHM 1 1 Kerry Goetz
00379672 IR_GH_0061 - - F - Korea, South (Republic) - - - - - BCD HP:0001141, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510 - CYP4V2 2 1 Jinu Han
00379782 IR_GS_0144 - - F - Korea, South (Republic) - - - - - BCD HP:0032037, HP:0001133, HP:0000510 - CYP4V2 2 1 Jinu Han
00409303 252 PubMed: Lin 2005 - M - - Japanese - - - - BCD best corrected visual acuity right, left eye: 1.0,0.6, electroretinogram amplitudes (uV) right, left eye: 120,not determined; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole CYP4V2 CYP4V2 1 1 LOVD
00409304 259 PubMed: Lin 2005 - F - - Japanese - - - - BCD best corrected visual acuity right, left eye: 0.5,1.0,, electroretinogram amplitudes (uV) right, left eye: not determined,27; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole CYP4V2 CYP4V2 1 1 LOVD
00409305 260 PubMed: Lin 2005 - F - - Japanese - - - - BCD best corrected visual acuity right, left eye: 0.7,0.9, electroretinogram amplitudes (uV) right, left eye: 207,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole CYP4V2 CYP4V2 1 1 LOVD
00409306 265 PubMed: Lin 2005 - F - - Japanese - - - - BCD best corrected visual acuity right, left eye: 0.2,1.5, electroretinogram amplitudes (uV) right, left eye: 274,296; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole CYP4V2 CYP4V2 1 1 LOVD
00409307 272 PubMed: Lin 2005 - M - - Japanese - - - - BCD best corrected visual acuity right, left eye: 0.9,0.7, electroretinogram amplitudes (uV) right, left eye: 385,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole CYP4V2 CYP4V2 1 1 LOVD
00409308 303 PubMed: Lin 2005 - M - - Japanese - - - - BCD best corrected visual acuity right, left eye: 0.5,0.5, electroretinogram amplitudes (uV) right, left eye: 311,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole CYP4V2 CYP4V2 1 1 LOVD
00409309 312 PubMed: Lin 2005 - F - - Japanese - - - - BCD best corrected visual acuity right, left eye: 1.2,1.2, electroretinogram amplitudes (uV) right, left eye: 312,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole CYP4V2 CYP4V2 1 1 LOVD
00409310 270 PubMed: Lin 2005 - F - - Japanese - - - - BCD best corrected visual acuity right, left eye: 1.0,1.2, electroretinogram amplitudes (uV) right, left eye: 296,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole CYP4V2 CYP4V2 1 1 LOVD
00409311 288-001 PubMed: Lin 2005 - F - - Chinese - - - - BCD best corrected visual acuity right, left eye: 0.5,0.6, electroretinogram amplitudes (uV) right, left eye: 329,323; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole CYP4V2 CYP4V2 2 1 LOVD
00409312 288-002 PubMed: Lin 2005 - F - - Middle Eastern - - - - BCD best corrected visual acuity right, left eye: 0.4,0.2, electroretinogram amplitudes (uV) right, left eye: 229,206; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole CYP4V2 CYP4V2 1 1 LOVD
00409313 288-003 PubMed: Lin 2005 - M - - Middle Eastern - - - - BCD best corrected visual acuity right, left eye: 0.8,0.05, electroretinogram amplitudes (uV) right, left eye: 71,29; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole CYP4V2 CYP4V2 1 1 LOVD
00409316 27001-IV:3 PubMed: Shan 2005 - F - China - - - - - BCD - CYP4V2 CYP4V2 1 1 LOVD
00409317 27002-II:2 PubMed: Shan 2005 - F - China - - - - - BCD - CYP4V2 CYP4V2 2 1 LOVD
00409318 27003-II:1 PubMed: Shan 2005 - F - China - - - - - BCD - CYP4V2 CYP4V2 2 1 LOVD
00409319 27004 PubMed: Shan 2005 - F - China - - - - - BCD - CYP4V2 CYP4V2 1 1 LOVD
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