All individuals with variants in gene IMPG1

95 entries on 1 page. Showing entries 1 - 95.
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00000041 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000101 - PubMed: Bell 2011 - - - - - - - - - retinal disease diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization 1 1 Global Variome, with Curator vacancy
00050621 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement 1 2 Johan den Dunnen
00309812 Fam1 PubMed: Meunier 2014 5-generation family, 8 affected (4F, 4M) F;M - France - - - - - retinal disease see paper; ... 1 8 Johan den Dunnen
00309813 Fam2 PubMed: Meunier 2014 3-generation family, 2 affected (2M) M - France - - - - - retinal disease see paper; ... 1 2 Johan den Dunnen
00309814 Fam3 PubMed: Meunier 2014 2-generation family, 1 affected F - France - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309826 Fam13–501 PubMed: Brandl 2017 2-generation family, 1 affected M - Germany - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309827 Fam11–151 PubMed: Brandl 2017 2-generation family, 1 affected M yes Turkey - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00328318 W000247 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00358785 BLM066 PubMed: Zhang 2016 family M - United States Hispanic - - - - retinal disease see paper; ... 1 1 LOVD
00362007 Pat10AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - retinal disease - 1 1 LOVD
00363385 HM883 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00372641 RP021 PubMed: Xu 2014 family M - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372669 RP281 PubMed: Xu 2014 patient F - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372675 RP298 PubMed: Xu 2014 patient M - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372736 RP224 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00373485 RP0251 PubMed: Fernandez-San Jose 2015 family, 2 affected - - Spain - - - - - retinal disease see paper; ... 1 2 LOVD
00375423 RP#016 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375427 RP#021 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375429 RP#023 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375434 RP#029 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00377738 - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
00377739 - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
00377740 - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
00377741 - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
00377742 - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
00377743 - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
00377744 - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
00377745 - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
00377746 - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
00377747 - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
00378054 IR_SB_0032 - - F - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000613, HP:0001133, HP:0000510 1 1 Jinu Han
00380099 ? PubMed: Kersten 2018 - M - - - - - - - retinal disease Multifocal geographic atrophy and some intermediate drusen 1 1 LOVD
00380100 ? PubMed: Kersten 2018 - F - - - - - - - retinal disease Few intermediate to large soft macular drusen 1 1 LOVD
00380101 ? PubMed: Kersten 2018 - F - - - - - - - retinal disease Intermediate to large soft macular drusen 1 1 LOVD
00380102 ? PubMed: Kersten 2018 - F - - - - - - - retinal disease Intermediate to large soft macular drusen 1 1 LOVD
00381969 9 PubMed: Burkhard 2018 - F no - - - - - - retinal disease visual acuity : od: 0.1, os: 0.1; fundus: no foveolar reflex, but positive wall reflex, otherwise normal; color vision: impaired; electroretinography: scotopic: normal, photopic: no responses; photophobia: yes; nystagmus : yes; progression: no 1 1 LOVD
00384062 RP-2038 PubMed: Martin Merida 2019 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00386197 RPN-315 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00386255 RPN-536 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00386277 RPN-173 PubMed: Rodriguez-Munoz 2020 family fRPN-68, proband F - Spain - - - - - retinal disease - 1 1 LOVD
00386843 OGI677_001360 PubMed: Zampaglione-2020 - ? - - - - - - - retinal disease - 1 1 LOVD
00388927 211 PubMed: Weisschuh 2020 Filing key number: 75, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389544 828 PubMed: Weisschuh 2020 Filing key number: 339, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389546 830 PubMed: Weisschuh 2020 Filing key number: 342, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00390284 G009838 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - retinal disease - 1 1 LOVD
00390285 W000247 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - retinal disease - 1 1 LOVD
00395851 F236 PubMed: Chen 2021 - ? - Taiwan - - - - - retinal disease - 1 1 LOVD
00409498 ? PubMed: Lockhart 2018 - F - - - - - - - BCD 27y: night vision difficulties; more rapid vision loss during the course of two pregnancies; over the next 20 years, the vision in the right eye continued to decline to a current best corrected visual acuity right, left eye: of 20/200 (1.0 logMAR), 20/50 (0.4 logMAR); visual fields: progressive loss of sensitivity, greater in the pericentral region between 10 deg and 20 deg from fixation, with eventual development of scotomas that deepened and enlarged with time; full field electroretinography: initially normal in both eyes (27y), slowly declined over time, became statistically significant at 39y ; relatively symmetric progressive attenuation of rod-dependent and cone-dependent responses in both eyes; multifocal electroretinography: markedly attenuated central macular cone-dependent function, notably worse in the right eye; perimetry also showed asymmetric central and paracentral scotomas with the III4e and V4e isopters that were worse in the right, which deepened and enlarged especially over the past several years; III4e isopter area shows a progressively steep decline during ages 39-46. Retinal crystalline deposits visualised on colour photography and infrared imaging; corneal limbal crystalline deposits did not manifest clinically until 33y; wide-field fundus autofluorescence: confluent hypoautofluorescence of the posterior pole correlating with extensive retinal pigment epithelium atrophy in both eyes; 47y some intact macular autofluorescence remained, correlating with residual retinal pigment epithelium and better visual acuity in the left eye. Early phase wide-field fundus autofluorescence: confluent hyperfluorescent window defect of the posterior pole with patchy hypofluorescent choroidal atrophy; 44y, cystoid macular oedema (CME), worse in the right eye on optical coherence tomography 1 1 LOVD
00411617 ? PubMed: Greenberg 2003 South African family, proband M yes South Africa - - - - - retinal disease night blindness, sensitivity to bright light, visual field loss, loss of visual acuity 1 1 LOVD
00414780 FamPatII2 PubMed: van Lith Verhoeven 2004 3-generation family, 11 affected (7F, 4M) F - Netherlands - - - - - retinal disease 44y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.87, 1.91; dark adaptation elevation (10log): 1; 54y: visual acuity right, left eye: 20/40, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.11, 0.97; dark adaptation elevation (10log): 1 1 11 LOVD
00414781 FamPatII4 PubMed: van Lith Verhoeven 2004 - F - Netherlands - - - - - retinal disease 50y: visual acuity right, left eye: 20/25, 20/20; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.12, 1; dark adaptation elevation (10log): 0.5; 65y: visual acuity right, left eye: 20/30, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 0.98, 0.96; dark adaptation elevation (10log): 1.5 1 1 LOVD
00414782 FamPatII7 PubMed: van Lith Verhoeven 2004 - F - Netherlands - - - - - retinal disease 45y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.5, 1.7; dark adaptation elevation (10log): 0.5; 60y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.4, 1.3; dark adaptation elevation (10log): 1 1 1 LOVD
00414783 FamPatII9 PubMed: van Lith Verhoeven 2004 - M - Netherlands - - - - - retinal disease 47y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: normal / normal; electrooculography right / left eye: 0.98, 1.04; dark adaptation elevation (10log): 0.5; 18y: visual acuity right, left eye: 20/60, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): normalP 1 1 LOVD
00414784 FamPatII2 PubMed: van Lith Verhoeven 2004 - F - Netherlands - - - - - retinal disease 18y: visual acuity right, left eye: 20/60, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): normalP; 28y: visual acuity right, left eye: 20/60, 20/40; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): 1.5; 43y: visual acuity right, left eye: 20/60, 20/40; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 1.09, 0.97; dark adaptation elevation (10log): 3 1 1 LOVD
00414785 FamPatII3 PubMed: van Lith Verhoeven 2004 - M - Netherlands - - - - - retinal disease 16y: visual acuity right, left eye: 20/20, 20/20; electroretinogram, scotopic, right / left eye: normal / normal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 2.14, 2.36; dark adaptation elevation (10log): normal; 26y: visual acuity right, left eye: 20/15, 20/15; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 2, 1.75; dark adaptation elevation (10log): normal; 41y: visual acuity right, left eye: 20/15, 20/40; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: normal / normal; electrooculography right / left eye: 1.65, 1.38; dark adaptation elevation (10log): normalP 1 1 LOVD
00414786 FamPatII5 PubMed: van Lith Verhoeven 2004 - F - Netherlands - - - - - retinal disease 24y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.22, 1.27; dark adaptation elevation (10log): 0.5; 40y: visual acuity right, left eye: 20/20, 20/15; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 0.89, 0.77; dark adaptation elevation (10log): normal 1 1 LOVD
00414787 FamPatII6 PubMed: van Lith Verhoeven 2004 - M - Netherlands - - - - - retinal disease 33y: visual acuity right, left eye: 20/20, 20/20; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): 1 1 1 LOVD
00414788 FamPatIV1;FamLPatIV1 PubMed: van Lith Verhoeven 2004, PubMed: Olivier 2021 - F - Netherlands - - - - - retinal disease 17y: visual acuity right, left eye: 20/15, 20/15; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: normal / normal; electrooculography right / left eye: 1.64, 1.75; dark adaptation elevation (10log): normal 1 1 LOVD
00414813 MTP327_IV:2 PubMed: Manes 2013 - F - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/60; electrooculography Arden ratios right, left eye: 2.49, 2.82; electroretinogram (dim blue light; 30 Hz flickers), right eye: 217, 98, left eye: 208, 97 1 1 LOVD
00414814 MTP327_IV:4 PubMed: Manes 2013 - M - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/50, 30/50; electrooculography Arden ratios right, left eye: 2.11, 2.27; electroretinogram (dim blue light; 30 Hz flickers), right eye: 132, 67, left eye: 104, 62 1 1 LOVD
00414815 MTP327_IV:6 PubMed: Manes 2013 - M - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/400, CF; electrooculography Arden ratios right, left eye: 1.25, 1.34; electroretinogram (dim blue light; 30 Hz flickers), right eye: 205, 42, left eye: 227, 49 1 1 LOVD
00414816 MTP327_V:2 PubMed: Manes 2013 - F - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: not done; electroretinogram (dim blue light; 30 Hz flickers): not done 1 1 LOVD
00414817 MTP327_V:3 PubMed: Manes 2013 - F - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/40; electrooculography Arden ratios right, left eye: 2.44, 2.62; electroretinogram (dim blue light; 30 Hz flickers): not done 1 1 LOVD
00414818 MTP327_V:4 PubMed: Manes 2013 - M - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/20, 20/25; electrooculography Arden ratios right, left eye: 1.94, 1.95; electroretinogram (dim blue light; 30 Hz flickers): not done 1 1 LOVD
00414819 MTP327_V:5 PubMed: Manes 2013 - M - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: 1.71, 1.54; electroretinogram (dim blue light; 30 Hz flickers), right eye: 274, 70, left eye: 233, 61 1 1 LOVD
00414820 MTP327_V:6 PubMed: Manes 2013 - F - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/60, 20/20; electrooculography Arden ratios right, left eye: 2.20, 2.01; electroretinogram (dim blue light; 30 Hz flickers), right eye: 258, 51, left eye: 243, 48 1 1 LOVD
00414821 MTP1290_III:1 PubMed: Manes 2013 - F - France French - - - - retinal disease best corrected visual acuity right, left eye: 40/200, 20/200; electrooculography Arden ratios right, left eye: 2.91, 2.85; electroretinogram (dim blue light; 30 Hz flickers), right eye: 427, 105, left eye: 409, 101 1 1 LOVD
00414822 MTP1290_III:4 PubMed: Manes 2013 - M - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/40, 20/30; electrooculography Arden ratios right, left eye: 1.66, 1.73; electroretinogram (dim blue light; 30 Hz flickers), right eye: 333, 83, left eye: 319, 72 1 1 LOVD
00414823 MTP1290_III:5 PubMed: Manes 2013 - M - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: 2.44, 2.14; electroretinogram (dim blue light; 30 Hz flickers), right eye: 292, 61, left eye: 262, 78 1 1 LOVD
00414824 MD0531_II:3 PubMed: Manes 2013 - M - Spain Spanish - - - - retinal disease best corrected visual acuity right, left eye: 40/200, 20/200; electrooculography Arden ratios right, left eye: 2.91, 2.85; electroretinogram (dim blue light; 30 Hz flickers), right eye: 427, 105, left eye: 409, 101 1 1 LOVD
00414825 MD0531_III:1 PubMed: Manes 2013 - F - Spain Spanish - - - - retinal disease best corrected visual acuity right, left eye: 40/200, 20/200; electrooculography Arden ratios right, left eye: 2.91, 2.85; electroretinogram (dim blue light; 30 Hz flickers), right eye: 427, 105, left eye: 409, 101 1 1 LOVD
00414826 MD0531_III:5 PubMed: Manes 2013 - F - Spain Spanish - - - - retinal disease best corrected visual acuity right, left eye: 20/30, 25/30; electrooculography Arden ratios right, left eye: 2.25, 2.35; electroretinogram (dim blue light; 30 Hz flickers), right eye: 385, 88, left eye: 357, 72 1 1 LOVD
00414827 MD0531_III:8 PubMed: Manes 2013 - M - Spain Spanish - - - - retinal disease best corrected visual acuity right, left eye: 40/200, 20/50; electrooculography Arden ratios right, left eye: 2.31, 2.61; electroretinogram (dim blue light; 30 Hz flickers): not done 1 1 LOVD
00414828 NA1863_II:1 PubMed: Manes 2013 parents had tiny extramacular deposits, which suggests that the c.461T>C and c.807+1G>T changes could be sufficient to cause subclinical retinal abnormalities M yes Italy Italian - - - - retinal disease best corrected visual acuity right, left eye: 20/30, 25/30; electrooculography Arden ratios right, left eye: 1.48, 1.64; electroretinogram (dim blue light; 30 Hz flickers): normal 1 1 LOVD
00414829 NA1863_II:2 PubMed: Manes 2013 parents had tiny extramacular deposits, which suggests that the c.461T>C and c.807+1G>T changes could be sufficient to cause subclinical retinal abnormalities F yes Italy Italian - - - - retinal disease best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: 1.58, 1.68; electroretinogram (dim blue light; 30 Hz flickers): normal 1 1 LOVD
00414830 NAL69_II:2 PubMed: Manes 2013 - F - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/22, 20/22; electrooculography Arden ratios right, left eye: 1.53, 1.61; electroretinogram (dim blue light; 30 Hz flickers): decreased scotopic and photopic responses 2 1 LOVD
00414831 NAL69_II:4 PubMed: Manes 2013 - M - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/33, 20/20; electrooculography Arden ratios right, left eye: 1.67, 2.41; electroretinogram (dim blue light; 30 Hz flickers): decreased scotopic and photopic responses 2 1 LOVD
00414832 NAX1_II:2 PubMed: Manes 2013 - F - France French - - - - retinal disease best corrected visual acuity right, left eye: 20/60, 20/40; electrooculography Arden ratios right, left eye: 2.32, 2.55; electroretinogram (dim blue light; 30 Hz flickers), right eye: 121, 75, left eye: 146, 81 1 1 LOVD
00414833 ? PubMed: Gonzalez Gomez 2019 - - - - - - - - - retinal disease gradual bilateral decrease of visual acuity of several months-duration; best corrected visual acuity (BCVA) right, left eye: 1/2, 2/3; intraocular pressure and anterior segment: unremarkable; ophthalmoscopy: bilateral and annular alteration of the retinal pigment epithelium (RPE) surrounding an intact central macula; optic coherence tomography: central and annular atrophy of the RPE, with increased choroidal hyperreflectivity, in the foveal region, generalized decrease of the macular thickness and the ganglion cell layer were also observed; autofluorescence: a central area of normal fluorescence surrounded by a concentric, perifoveal, and hyperautofluorescent area; fluorescein angiography: bull's-eye maculopathy. Electrophysiological testing described a nonspecific rod and cone dysfunction; campimetry: bilateral central scotoma affecting the central 5 degrees; subsequent annual reviews - the patient complained about a gradual decrease in the visual acuity, dyschromatopsia, and difficulties for activities th required the use of central vision; 3y after the first visit BCVA: 2/5, 1/2; ophthalmoscopy, optical coherence tomography and autofluorescence tests - mild progression of the atrophy areas; campimetry: bilateral central scotoma affecting the central 10 degrees, a poor progression of the disease; progressive worsening of symptoms over the 3 years of followup due to the maculopathy, as no other secondary complications were detected on subsequent review 1 1 LOVD
00414840 ? PubMed: Gupta 2019 proband F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/20, 20/40-3; Amsler testing: central scotoma in the left eye on; fundus: left eye a small round yellow foveal lesion; optical coherence tomography: disorganization and decreased reflectance of the foveal ellipsoid zone (EZ) and interdigitation zone (IZ), along with a small subretinal lucency; right eye - a much smaller foveal yellow spot with a corresponding smaller foveal area of disorganization and decreased reflectance of the EZ and IZ; fluorescein angiography and indocyanine green angiography: normal; short wavelength fundus autofluorescence: normal findings in the right eye and a subtle central area of increased autofluorescence in the left eye; multifocal electroretinogram: a small reduction in the central retinal response peak of the left eye; interocular difference in central response peaks statistically significant (P , 0.01); absolute amplitude of the central response peak in the left eye smaller than the surrounding hexagons, not seen in normal eyes; electrooculogram: not performed; causes of yellow foveal spots and/or outer retinal disruption such as solar retinopathy, laser pointer–induced maculopathy, alkyl nitrate abuse, tamoxifen retinopathy, achromatopsia, and cone dystrophy were ruled out by context, clinical examination, and multimodal imagi 1 1 LOVD
00414841 ? PubMed: Gupta 2019 proband's father M - - - - - - - retinal disease review of the imaging confirmed thickened choroid with pachyvessels in the right eye more than in the left eye, with retinal pigment epithelial abnormalities and subretinal fluid in the right eye consistent with central serous chorioretinopathy 1 1 LOVD
00417496 FamA PubMed: Olivier 2021 4-generation family, 12 affected (8F, 4M) F;M - France - - - - - RP see paper 1 12 Johan den Dunnen
00417497 FamBPatII2 PubMed: Olivier 2021 2-generation family, 1 affected, unaffected carrier mother and 2 sisters F - France - - - - - VMD see paper 1 1 Johan den Dunnen
00417498 FamCPatII1 PubMed: Olivier 2021 2 generation family, 1 affected, unaffected carrier mother F - Spain - - - - - RP see paper; ..., moderate retinitis pigmentosa; fundus typical appearance of bone spicules mid-peripheral retina,slightly attenuated retinal vessels 1 1 Johan den Dunnen
00417499 FamDPatII2/3 PubMed: Olivier 2021 2 generation family, affected brother/sister, unaffected carrier sister F;M - Spain - - - - - RP see paper 1 2 Johan den Dunnen
00417500 FamEPatII2/7 PubMed: Olivier 2021 3-generation family, 3 affected (2F, M), unaffected carrier son (40y) F;M - France - - - - - RP see paper 1 3 Johan den Dunnen
00417501 FamFPatI1/II1 PubMed: Olivier 2021 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - VMD see paper 1 2 Johan den Dunnen
00417502 FamGPatI1/II1 PubMed: Olivier 2021 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - VMD see paper 1 2 Johan den Dunnen
00417503 FamHPatII1 PubMed: Olivier 2021 2-generation family, 1 affected, unaffected carrier brother M - France - - - - - maculopathy see paper 1 1 Johan den Dunnen
00417504 FamI PubMed: Olivier 2021 2 generation family, 1 affected F - Spain - - - - - RP - 1 1 Johan den Dunnen
00417505 FamJ PubMed: Olivier 2021 2 generation family, 1 affected F - Spain - - - - - COD see paper 1 1 Johan den Dunnen
00417506 FamKPatII1/3 PubMed: Olivier 2021 2-generation family, affected brother/sister F;M - Spain - - - - - RP see paper 1 1 Johan den Dunnen
00417507 FamLPatIV3 PubMed: Olivier 2021 - M - Netherlands - - - - - retinal disease - 1 1 Johan den Dunnen
00420539 F236 PubMed: Chen 2021 - - - Taiwan - - - - - retinal disease - 1 1 LOVD
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