All individuals with variants in gene C1QTNF5

209 entries on 3 pages. Showing entries 1 - 100.
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00290267 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 12 Mohammed Faruq
00324526 patient PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 2-generation family, 1 affected, unaffected parents M no Japan - >20y - - - COD see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688) 1 1 Najlae Akhiyate
00328050 G001421 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00328078 G004994 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - retinal disease - 2 1 LOVD
00332045 Pat183 PubMed: Birtel 2018 patient F - Germany - - - - - retinal disease metamorphopsia, reduced visual acuity 1 1 LOVD
00334574 166 PubMed: Vincent 2017 family, 6 affected, patient, brother, sister's son, three daughters M no Samoa - - - - - retinal disease see paper; ... 1 6 LOVD
00335959 - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00359208 12002569 PubMed: Ellingford 2016 patient - - - - - - - - retinal disease - 1 1 LOVD
00372065 RP-0911 PubMed: Almoguera 2015 family - - Spain - - - - - retinal disease see paper; ... 1 1 LOVD
00372519 RP240 PubMed: Xu 2015 2-generation family, 1 affected, unaffected carrier parents M - China - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00377489 RP-2760 PubMed: Martin-Merida 2018 - - - Spain - - - - - retinal disease - 1 1 LOVD
00377490 RP-0488 PubMed: Martin-Merida 2018 - - - Spain - - - - - retinal disease - 1 1 LOVD
00377491 RP-2409 PubMed: Martin-Merida 2018 - - - Spain - - - - - retinal disease - 1 1 LOVD
00377492 RP-0911 PubMed: Martin-Merida 2018 - - - Spain - - - - - retinal disease - 1 1 LOVD
00384329 13706 PubMed: Wang 2019 - M - China - - - - - retinal disease - 1 1 LOVD
00386160 RPN-234 PubMed: RodriguezjalopezMunoz 2020 family fRPN-100, proband M - Spain - - - - - retinal disease - 1 1 LOVD
00386161 RPN-509 PubMed: Rodriguez-Munoz 2020 family fRPN-100, family member F - Spain - - - - - retinal disease - 1 1 LOVD
00386162 RPN-552 PubMed: Rodriguez-Munoz 2020 family fRPN-100, family member F - Spain - - - - - retinal disease - 1 1 LOVD
00386163 RPN-640 PubMed: Rodriguez-Munoz 2020 family fRPN-100, family member F - Spain - - - - - retinal disease - 1 1 LOVD
00386247 RPN-482 PubMed: Rodriguez-Munoz 2020 family fRPN-214, proband M - Spain - - - - - retinal disease - 1 1 LOVD
00390177 G004994 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00390306 G001421 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00414619 L2_IV:15 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414620 L2_IV:22 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414621 L2_V:25 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414622 L2_V:26 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414623 L2_V:28 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414624 L2_V:33 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414625 L2_V:36 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414626 L2_V:37 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414627 L2_V:38 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414628 L2_V:39 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414629 L2_V:40 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414630 L2_V:41 PubMed: Hayward 2003 family L2 ? - - - - - - - retinal disease - 1 1 LOVD
00414631 L3_3 PubMed: Hayward 2003 family L3 ? - - - - - - - retinal disease - 1 1 LOVD
00414632 L3_4 PubMed: Hayward 2003 family L3 ? - - - - - - - retinal disease - 1 1 LOVD
00414633 L8_3 PubMed: Hayward 2003 family L8 ? - - - - - - - retinal disease - 1 1 LOVD
00414634 L8_4 PubMed: Hayward 2003 family L8 ? - - - - - - - retinal disease - 1 1 LOVD
00414635 L8_7 PubMed: Hayward 2003 family L8 ? - - - - - - - retinal disease - 1 1 LOVD
00414636 L15_1 PubMed: Hayward 2003 family L15 ? - - - - - - - retinal disease - 1 1 LOVD
00414637 L15_2 PubMed: Hayward 2003 family L15 ? - - - - - - - retinal disease - 1 1 LOVD
00414638 L16_1 PubMed: Hayward 2003 family L16 ? - - - - - - - retinal disease - 1 1 LOVD
00414639 L18_1 PubMed: Hayward 2003 family L18 ? - - - - - - - retinal disease - 1 1 LOVD
00414640 L18_3 PubMed: Hayward 2003 family L18 ? - - - - - - - retinal disease - 1 1 LOVD
00414641 L18_2 PubMed: Hayward 2003 family L18 ? - - - - - - - retinal disease - 1 1 LOVD
00414642 L18_4 PubMed: Hayward 2003 family L18 ? - - - - - - - retinal disease - 1 1 LOVD
00414671 III:3 PubMed: Ayyagari 2005 family UM:H389 ? - - - - - - - retinal disease - 1 1 LOVD
00414672 III:12 PubMed: Ayyagari 2005 family UM:H390 ? - - - - - - - retinal disease - 1 1 LOVD
00414673 IV:1 PubMed: Ayyagari 2005 family UM:H391 ? - - - - - - - retinal disease - 1 1 LOVD
00414674 IV:8 PubMed: Ayyagari 2005 family UM:H392 ? - - - - - - - retinal disease - 1 1 LOVD
00414675 IV:11 PubMed: Ayyagari 2005 family UM:H393 ? - - - - - - - retinal disease - 1 1 LOVD
00414676 IV:13 PubMed: Ayyagari 2005 family UM:H394 ? - - - - - - - retinal disease - 1 1 LOVD
00414677 IV:17 PubMed: Ayyagari 2005 family UM:H395 ? - - - - - - - retinal disease - 1 1 LOVD
00414678 IV:20 PubMed: Ayyagari 2005 family UM:H396 ? - - - - - - - retinal disease - 1 1 LOVD
00414679 IV:29 PubMed: Ayyagari 2005 family UM:H397 ? - - - - - - - retinal disease - 1 1 LOVD
00414680 V:4 PubMed: Ayyagari 2005 family UM:H398 ? - - - - - - - retinal disease - 1 1 LOVD
00414681 V:9 PubMed: Ayyagari 2005 family UM:H399 ? - - - - - - - retinal disease - 1 1 LOVD
00414682 V:11 PubMed: Ayyagari 2005 family UM:H400 ? - - - - - - - retinal disease - 1 1 LOVD
00414683 V:12 PubMed: Ayyagari 2005 family UM:H401 ? - - - - - - - retinal disease - 1 1 LOVD
00414684 V:13 PubMed: Ayyagari 2005 family UM:H402 ? - - - - - - - retinal disease - 1 1 LOVD
00414685 V:20 PubMed: Ayyagari 2005 family UM:H403 ? - - - - - - - retinal disease - 1 1 LOVD
00414686 V:32 PubMed: Ayyagari 2005 family UM:H404 ? - - - - - - - retinal disease - 1 1 LOVD
00414687 V:34 PubMed: Ayyagari 2005 family UM:H405 ? - - - - - - - retinal disease - 1 1 LOVD
00414688 V:35 PubMed: Ayyagari 2005 family UM:H406 ? - - - - - - - retinal disease - 1 1 LOVD
00414689 V:39 PubMed: Ayyagari 2005 family UM:H407 ? - - - - - - - retinal disease - 1 1 LOVD
00414690 V:42 PubMed: Ayyagari 2005 family UM:H408 ? - - - - - - - retinal disease - 1 1 LOVD
00414691 V:60 PubMed: Ayyagari 2005 family UM:H409; not available for clinical examination ? - - - - - - - retinal disease - 1 1 LOVD
00414692 V:62 PubMed: Ayyagari 2005 family UM:H409; not available for clinical examination ? - - - - - - - retinal disease - 1 1 LOVD
00414693 VI:8 PubMed: Ayyagari 2005 family UM:H411 ? - - - - - - - retinal disease - 1 1 LOVD
00414694 VI:9 PubMed: Ayyagari 2005 family UM:H412 ? - - - - - - - retinal disease - 1 1 LOVD
00414695 VI:10 PubMed: Ayyagari 2005 family UM:H412 ? - - - - - - - retinal disease - 1 1 LOVD
00414696 VI:11 PubMed: Ayyagari 2005 family UM:H412 ? - - - - - - - retinal disease - 1 1 LOVD
00414697 VI:12 PubMed: Ayyagari 2005 family UM:H412 ? - - - - - - - retinal disease - 1 1 LOVD
00414698 VI:13 PubMed: Ayyagari 2005 family UM:H412 ? - - - - - - - retinal disease - 1 1 LOVD
00414707 ? PubMed: Subrayan 2005 - F - - - - - - - retinal disease late-onset macular degeneration, long anterior zonules, elevated intraocular pressure, nyctalopia, best corrected visual acuity: 20/20 in each eye; iris transillumination defects in a peripupillary distribution and anteriorly placed pigmented zonules: fundus: normal; 10-y follow-up: progressive nyctalopia, visual acuity right, left eye decreasing to 20/40, 20/60 OS; choroidal neovascular membrane developed in the right eye, treated with laser; one year later - visual acuity 20/200 both eyes, pigmentary changes present in the fundus; family history: patient’s father and brother experienced similar visual problems at a comparable age, brother also showed iris transillumination, prominent anterior zonule insertion and pigmentary changes in the retina, patient’s nephew in his fourth decade and asymptomatic had midperipheral drusen like lesions in both fundi as well as anterior segment changes akin to those seen in his relat 1 1 LOVD
00414708 ? PubMed: Shu 2006 in vitro protein studies - - - - - - - - retinal disease - 1 1 LOVD
00414709 II2 PubMed: Vincent 2012 - M - - - - - - - retinal disease 55y: best corrected visual acuity right, left eye: 20/20, 20/20, color vision: normal, contrast sensitivity right:left eye: 1.65:1.65; fundus: normal disks and vessels, drusenoid deposits, inside vascular arcades; , Goldmann visual field: mild enlargement of blind spot, otherwise normal. electroretinogram: dark adapted 0.01 Y b-wave, dark adapted 2.29 Y b-wave (b/a, 1.52), light adapted electroretinograms: normal; 58y: best corrected visual acuity right, left eye: 20/20:20/20, color vision: red-green axis mildly decreased, blue-yellow axis moderately decreased, contrast sensitivity right:left eye: 1.35:1.35; fundus: increase in drusenoid deposits, early retinal pigment epithelium changes in macula and periphery, Goldmann visual field: stable. electroretinogram: dark adapted 0.01 non-recordable, dark adapted 2.29 moderately decreased b and mildly decreased a-waves(b/a, 1.02), light adapted 2.29 Hz: mildly decreased a and b-wave, light adapted 30 Hz: mildly decreased b-wave with delay; 60y: best corrected visual acuity right, left eye: 20/20, 20/20, color vision: red-green axis mildly decreased, blue-yellow axis moderately decreased, contrast sensitivity right:left eye: 1.35:1.35, fundus: retinal pigment epithelium changes progressed in macula and periphery, Goldmann visual field: ‘C’-shaped defect to I4e target in 10deg-25deg nasal field crossing the midline; islands of nasal field defects to III4e target; 63y: best corrected visual acuity right, left eye: 20/20, 20/20 red-green axis mildly decreased, blue-yellow axis severely decreased, contrast sensitivity right:left eye: 1.20:1.20; fundus: panretinal drusenoid deposits, scalloped areas of chorioretinal atrophy temporal to macula, choroidal neovascular membrane in the inferior retina in both eyes , Goldmann visual field: annular scotoma to I4e target in 2deg-45deg zone; islands of field defects in 10deg-25deg zone to III4e target (more in nasal field), electroretinogram: dark adapted 0.01: non-recordable, dark adapted 2.29: severely decreased b and mildly desed a-wave (b/a, 0.70), light adapted electroretinograms: stable except for further delay in 30-Hz flicker; 63y: visual acuity 20/20, red-green axis mildly decreased, blue-yellow axis severely decreased, contrast sensitivity right:left eye: 1.20:1.20; fundus: regression of choroidal neovascular membrane noted; new choroidal neovascular membrane in temporal periphery right eye, Goldmann visual field: stable 1 1 LOVD
00414710 II4 PubMed: Vincent 2012 - M - - - - - - - retinal disease 66y: best corrected visual acuity right, left eye: 20/20, 20/20 red-green axis severely decreased, blue-yellow axis moderately decreased, contrast sensitivity right:left eye: 1.35:1.35, fundus: drusenoid deposits at macula, scalloped chorioretinal atrophy in temporal midperiphery and far periphery, Goldmann visual field: normal to III 4e; scotomas in nasal field to I4e target, electroretinogram: dark adapted 0.01: moderately decreased b-wave, dark adapted 2.29: moderately decreased a and b-waves (b/a, 2.49), light adapted 2.29: b-wave delay, 30 Hz: b-wave delay; 68y: best corrected visual acuity right, left eye: 20/20, 20/25, contrast sensitivity right:left eye: 1.05:1.05; additional choroidal neovascular membrane with subretinal bleed in both eyes, Goldmann visual field: islands of scotoma in nasal field to III4e; constriction of fields to I4e predominantly involving nasal field 1 1 LOVD
00414711 III4 PubMed: Vincent 2012 - F - - - - - - - retinal disease 37y: best corrected visual acuity 20/20; color: normal, contrast sensitivity: 1.65:1.65, fundus: normal evaluation, Goldmann visual field: not performed, electroretinogram: nNormal dark adapted and light adapted electroretinograms 1 1 LOVD
00414712 1 PubMed: Soumplis 2013 - ? - - - - - - - retinal disease peripupillary iris atrophy and abnormally long anterior zonular insertions, scalloped areas of retinal pigment epithelium atrophy in the mid-periphery and widespread atrophy in the posterior pole; full-field electroretinograms: consistent with generalized dysfunction at the level of the photoreceptor with a rod-cone pattern of dysfunction in all tested cases, pattern electroretinogram: severe macular involvement 1 1 LOVD
00414713 2 PubMed: Soumplis 2013 - ? - - - - - - - retinal disease peripupillary iris atrophy and abnormally long anterior zonular insertions, scalloped areas of retinal pigment epithelium atrophy in the mid-periphery and widespread atrophy in the posterior pole; full-field electroretinograms: consistent with generalized dysfunction at the level of the photoreceptor with a rod-cone pattern of dysfunction in all tested cases, pattern electroretinogram: severe macular involvement 1 1 LOVD
00414714 3 PubMed: Soumplis 2013 - ? - - - - - - - retinal disease peripupillary iris atrophy and abnormally long anterior zonular insertions, scalloped areas of retinal pigment epithelium atrophy in the mid-periphery and widespread atrophy in the posterior pole; full-field electroretinograms: consistent with generalized dysfunction at the level of the photoreceptor with a rod-cone pattern of dysfunction in all tested cases, pattern electroretinogram: severe macular involvement; spectral domain optical coherence tomography revealed widespread photoreceptor loss with absence of the inner / outer segment junction and concurrent thinning of the outer nuclear layer interspersed with regions of inner / outer segment junction preservation; hyper-reflective deposits and thickening of the hyper-reflective line corresponding to the retinal pigment epithelium / Bruch’s membrane complex were evident. Interestingly, multiple triangular hyporeflective spaces with hyper-reflective borders at the level of the retinal pigment epithelium / - Bruch’s membrane complex; qualitative analysisspectral domain optical coherence tomography images: diffuse choroidal thinning, mainly affecting the inner choroid suggesting loss of the choriocapillaris 1 1 LOVD
00414715 4 PubMed: Soumplis 2013 - ? - - - - - - - retinal disease large area of macular atrophy with scalloped borders, no obvious areas of atrophy in the mid-periphery, fundus autofluorescence imaging confirmed the above findings and highlighted the atrophic areas; full-field electroretinograms: consistent with generalized dysfunction at the level of the photoreceptor with a rod-cone pattern of dysfunction in all tested cases, pattern electroretinogram: severe macular involvement - electrophysiological findings, with an atypical fundus appearance, consistent with severe bilateral macular and generalized rod system dysfunction but near normal full-field cone responses; spectral domain optical coherence tomography revealed widespread photoreceptor loss with absence of the inner / outer segment junction and concurrent thinning of the outer nuclear layer interspersed with regions of inner / outer segment junction preservation; hyper-reflective deposits and thickening of the hyper-reflective line corresponding to the retinal pigment epithelium / Bruch’s membrane complex were ident. Interestingly, multiple triangular hyporeflective spaces with hyper-reflective borders at the level of the retinal pigment epithelium / - Bruch’s membrane complex; qualitative analysis of spectral domain optical coherence tomography images: diffuse choroidal thinning, mainly affecting the inner choroid suggesting loss of the choriocapillar 1 1 LOVD
00414716 1 PubMed: Papastavrou 2015 - M - - - - - - - retinal disease best corrected visual acuity right, left eye: 6/12, 6/12; disease stage:2; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 6.5, 6.5; day 2, right, left eye: 6, 6.5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses 1 1 LOVD
00414717 2 PubMed: Papastavrou 2015 - F - - - - - - - retinal disease best corrected visual acuity right, left eye: 6/18, 6/24; disease stage:3; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 6, 6; day 2, right, left eye: 6, 6; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses 1 1 LOVD
00414718 3 PubMed: Papastavrou 2015 - F - - - - - - - retinal disease best corrected visual acuity right, left eye: 6/9, 6/18; disease stage:3; eyes undergoing extended dark adaptation - patched eye:right; pupil diameter, mm, day 1, right, left eye: 6, 6; day 2, right, left eye: 6.5, 6.5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses 1 1 LOVD
00414719 4 PubMed: Papastavrou 2015 - F - - - - - - - retinal disease best corrected visual acuity right, left eye: 6/9, 6/12; disease stage:2; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 7, 7; day 2, right, left eye: 7, 7; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses 1 1 LOVD
00414720 5 PubMed: Papastavrou 2015 - F - - - - - - - retinal disease best corrected visual acuity right, left eye: counting fingers, counting fingers; disease stage:3; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 5.5, 6; day 2, right, left eye: 5.5, 5.5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses 1 1 LOVD
00414721 6 PubMed: Papastavrou 2015 - M - - - - - - - retinal disease best corrected visual acuity right, left eye: 6/18, 6/60; disease stage:3; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 6.5, 6.5; day 2, right, left eye: 6.5, 6.5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses 1 1 LOVD
00414722 7 PubMed: Papastavrou 2015 - F - - - - - - - retinal disease best corrected visual acuity right, left eye: counting fingers, counting fingers; disease stage:3; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 6.5, 6.5; day 2, right, left eye: 6.5, 6.5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses 1 1 LOVD
00414723 8 PubMed: Papastavrou 2015 - F - - - - - - - retinal disease best corrected visual acuity right, left eye: 6/18, counting fingers; disease stage:3; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 5.5, 5.5; day 2, right, left eye: 5.5, 5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses 1 1 LOVD
00414724 9 PubMed: Papastavrou 2015 - F - - - - - - - retinal disease best corrected visual acuity right, left eye: 6/18, 6/60; disease stage:3; eyes undergoing extended dark adaptation - patched eye:right; pupil diameter, mm, day 1, right, left eye: 6, 6; day 2, right, left eye: 6, 6; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses 1 1 LOVD
00414725 IV:I PubMed: Stanton 2017 family 1 M - - - - - - - retinal disease age of onset: late 50s , dark adaptation delay; fundus: drusenoid deposits, retinal pigment epithelium atrophy 1 1 LOVD
00414726 IV:II PubMed: Stanton 2017 family 1 F - - - - - - - retinal disease age of onset: early 50s , dark adaptation delay; fundus: drusenoid deposits, retinal pigment epithelium atrophy 1 1 LOVD
00414727 V:I PubMed: Stanton 2017 family 1 F - - - - - - - retinal disease age of onset: mid-60s , dark adaptation delay; fundus: drusenoid deposits, retinal pigment epithelium atrophy 1 1 LOVD
00414728 V:III PubMed: Stanton 2017 family 1 M - - - - - - - retinal disease age of onset: late 50s , dark adaptation delay; fundus: drusenoid deposits, retinal pigment epithelium atrophy 1 1 LOVD
00414729 V:VI PubMed: Stanton 2017 family 1 M - - - - - - - retinal disease age of onset: mid-60s , dark adaptation delay; fundus: drusenoid deposits, no retinal pigment epithelium atrophy 1 1 LOVD
00414730 V:VII PubMed: Stanton 2017 family 1 M - - - - - - - retinal disease age of onset: mid-60s , dark adaptation delay; fundus: drusenoid deposits, no retinal pigment epithelium atrophy 1 1 LOVD
00414731 II:I PubMed: Stanton 2017 family 2 M - - - - - - - retinal disease age of onset: mid-40s , dark adaptation delay; fundus: drusenoid deposits, retinal pigment epithelium atrophy 1 1 LOVD
00414732 II:II PubMed: Stanton 2017 family 2 M - - - - - - - retinal disease age of onset: mid-60s , dark adaptation delay; fundus: drusenoid deposits, retinal pigment epithelium atrophy 1 1 LOVD
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