All individuals with variants in gene ATF6

48 entries on 1 page. Showing entries 1 - 48.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00092350 brother - 2-generation family, affected brother/sister M - Poland - - - - - CORD - 1 2 Anna Skorczyk-Werner
00100409 sister - - F ? Poland - - - - - CORD - 1 1 Anna Skorczyk-Werner
00289569 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289570 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00308599 - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00328056 G001437 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - retinal disease - 1 1 LOVD
00328278 W000143 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - retinal disease - 1 1 LOVD
00331297 Fam17 PubMed: Wawrocka 2018 - - - Poland - - - - - retinal disease - 1 1 LOVD
00362924 CHRO436 PubMed: Weisschuh 2016 family - - Germany - - - - - retinal disease see paper; ... 2 1 LOVD
00380137 13DG0012 PubMed: Patel 2018 - - likely Saudi Arabia - - - - - retinal disease - 1 1 LOVD
00389684 968 PubMed: Weisschuh 2020 Filing key number: 436, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389685 969 PubMed: Weisschuh 2020 Filing key number: 436, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00390167 G001437 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
00390168 W000143 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - retinal disease - 1 1 LOVD
00391879 14542 PubMed: Sun 2020 - F - China - - - - - retinal disease Best corrected visual acuity right/left eye: 0.1/0.1, fundus: normal, electroretinogram responses: rod: mildly reduced, cone: extinguished 2 1 LOVD
00391880 16187 PubMed: Sun 2020 early childhood onset defined as younger than 8y F - China - - - - - retinal disease fundus: poor foveal reflex, electroretinogram responses: rod: normal, cone: extinguished 1 1 LOVD
00415218 CHRO282-II:1 PubMed: Kohl 2015 Family CHRO282, patient II:1 M - - South Tyrolean - - - - retinal disease best corrected visual acuity right, left eye: 20/100 (+0.5 +2.0 90deg), 20/2000 (+1.0 +2.0 90deg); fundus: macular changes; optical coherence tomography: not available; color vision: achromatopsia; visual field: not available; scotopic / photopic electroretinogram: not available; glare: yes; nystagmus: nystagmus at age 5 months; progression: no 1 1 LOVD
00415219 CHRO628-II:2 PubMed: Kohl 2015 Family CHRO628, patient II:2 M - - Irish - - - - retinal disease best corrected visual acuity right, left eye: 20/63 (+2.0 -1.5 162deg), 20/100 (+2.25 -0.75 5deg); fundus: small retinal pigment epithelium-defect in the fovea, pathological reflexes; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: nystagmus at birth, currently no nystagmus; progression: no 1 1 LOVD
00415220 CHRO628-II:4 PubMed: Kohl 2015 Family CHRO628, patient II:4 F - - Irish - - - - retinal disease best corrected visual acuity right, left eye: 20/100 (0.0 -1.0 180deg), 20/63 (-1.0); fundus: small retinal pigment epithelium-defect in the fovea, pathological reflexes; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: nystagmus at birth, currently no nystagmus; progression: no 1 1 LOVD
00415221 CHRO628-II:6 PubMed: Kohl 2015 Family CHRO628, patient II:6 F - - Irish - - - - retinal disease best corrected visual acuity right, left eye: 20/200 (+3.0), 20/200 (+3.0); fundus: small retinal pigment epithelium-defect in the fovea, pathological reflexes; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: not available; visual field: not available; scotopic / photopic electroretinogram: not available; glare: yes; nystagmus: nystagmus at birth, currently no nystagmus; progression: no 1 1 LOVD
00415222 CHRO91-II:1 PubMed: Kohl 2015 Family CHRO91, patient II:1 F - - British - - - - retinal disease best corrected visual acuity right, left eye: 20/448 (-4.0 -4.25 10deg), 20/252 (-4.5 -4.00 2deg); fundus: mild peripapillary atrophy, small amount of foveal atrophy; optical coherence tomography: foveal hypoplasia,, inner/outer segment absence; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no 1 1 LOVD
00415223 CHRO91-II:2 PubMed: Kohl 2015 Family CHRO91, patient II:2 F - - British - - - - retinal disease best corrected visual acuity right, left eye: 20/209 (+6.5 -2.0 5deg), 20/115 (+6.0 -1.5 15deg); fundus: mild peripapillary atrophy, small amount of foveal atrophy; optical coherence tomography: foveal hypoplasia, inner/outer segment absence; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no 1 1 LOVD
00415224 CHRO91-II:3 PubMed: Kohl 2015 Family CHRO91, patient II:3 M - - British - - - - retinal disease best corrected visual acuity right, left eye: 20/110 (-6.5), 20/152 (-9.0); fundus: marked peripapillary atrophy, marked foveal atrophy; optical coherence tomography: foveal hypoplasia, marked loss of outer retina and retinal pigment epithelium; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: not available; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no 1 1 LOVD
00415225 CHRO709-II:1 PubMed: Kohl 2015 Family CHRO709, patient II:1 F - - Asian-Indian - - - - retinal disease best corrected visual acuity right, left eye: 20/132 (0.0 -2.5 15deg), 20/145 (-1.5 -2.25 10deg); fundus: mild pigmentary changes at macula; optical coherence tomography: foveal hypoplasia, inner/outer segment absence ; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no 1 1 LOVD
00415226 CHRO709-II:2 PubMed: Kohl 2015 Family CHRO709, patient II:2 F - - Asian-Indian - - - - retinal disease best corrected visual acuity right, left eye: 20/110 (+ 2.5 -2.0 180deg), 20/166 (+2.0 -1.0 50deg); fundus: mild pigmentary changes at macula; optical coherence tomography: foveal hypoplasia, inner/outer segment absence; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no 1 1 LOVD
00415227 CHRO593-IV:1 PubMed: Kohl 2015 Family CHRO593, patient IV:1 M - - French-Canadian - - - - retinal disease best corrected visual acuity right, left eye: 20/160 (+4.25 +0.75 92deg), 20/160 (+2.0 +1.25 92deg); fundus: bull's eye maculopathy; optical coherence tomography: not available; color vision: incomplete achromatopsia; visual field: not available; scotopic / photopic electroretinogram: normal /reduced; glare: yes; nystagmus: currently convergence controlled nystagmus; progression: not available 1 1 LOVD
00415228 CHRO593-II:3 PubMed: Kohl 2015 Family CHRO593, patient II:3 M - - French-Canadian - - - - retinal disease - 1 1 LOVD
00415229 MOGL411-MOGL467-III:4 PubMed: Kohl 2015 Family MOGL411, patient MOGL467, patient III:4 F - - French-Canadian - - - - retinal disease best corrected visual acuity right, left eye: 20/100 (+6.0 + 1.0 90deg), 20/100 (+6.0 +1.0 90deg); fundus: foveal atrophy; optical coherence tomography: foveal hypoplasia with no umbo formation, cone loss in the central fovea; color vision: achromatopsia; visual field: Normal; scotopic / photopic electroretinogram: normal /reduced; glare: yes; nystagmus: yes; progression: not available 1 1 LOVD
00415230 MOGL411-MOGL467- IV:1 PubMed: Kohl 2015 Family MOGL411, patient MOGL467, patient IV:1 M - - French-Canadian - - - - retinal disease best corrected visual acuity right, left eye: 20/100 (-6.5 + 3.5 90deg), 20/100 (-9.5 + 5.0 90deg); fundus: foveal atrophy; optical coherence tomography: foveal hypoplasia with no umbo formation, cone loss in the central fovea; color vision: achromatopsia; visual field: Normal; scotopic / photopic electroretinogram: reduced /reduced; glare: yes; nystagmus: no; progression: not available 1 1 LOVD
00415231 MOGL5414-II:1 PubMed: Kohl 2015 Family MOGL5414, patient II:1 M - - French-Canadian - - - - retinal disease best corrected visual acuity right, left eye: 20/70 (-5.5 +1.75 90deg),20/80 (-5.75 + 1.25 90deg); fundus: foveal atrophy; optical coherence tomography: foveal hypoplasia with no umbo formation, cone loss in the central fovea; color vision: achromatopsia; visual field: Normal; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: no; progression: not available 1 1 LOVD
00415232 CHRO649-II:1 PubMed: Kohl 2015 Family CHRO649, patient II:1 F - - Iranian - - - - retinal disease best corrected visual acuity right, left eye: 20/200 (-1.5+3.5 85deg), 20/100 (-1.5+2.75 105deg); fundus: dull foveal reflex with retinal pigment epithelium changes at the fovea ou, fine retinal pigment epithelium mottling left eye; optical coherence tomography: partial foveal hypoplasia; presence of optical gap (hyporeflectivity) at the fovea in both eyes; color vision: incomplete achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: nystagmus since infancy; now milder; progression: yes 1 1 LOVD
00415233 ZD179-II:1 PubMed: Kohl 2015 Family ZD179, patient II:1 F - - Turkish - - - - retinal disease best corrected visual acuity right, left eye: 20/200 (0.0 -4.0 180deg), 20/200 (0.0 -4.5 170deg); fundus: dull foveal reflex with retinal pigment epithelium changes at the fovea; optical coherence tomography: no foveal impression, no subfoveal inner outer segment border; color vision: achromatopsia; visual field: not available; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: yes; progression: not available 1 1 LOVD
00415234 CHRO436-II:1 PubMed: Kohl 2015 Family CHRO436, patient II:1 M - - German - - - - retinal disease best corrected visual acuity right, left eye: 20/100 (+7.25 -2.25 5deg), 20/200 (+7.25 -2.25 5deg); fundus: small retinal pigment epithelium-defect in the fovea; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: nystagmus at birth, currently no nystagmus; progression: no 2 1 LOVD
00415235 CHRO436-II:2 PubMed: Kohl 2015 Family CHRO436, patient II:2 F - - German - - - - retinal disease best corrected visual acuity right, left eye: 20/200 (+7.25 -1.25 100deg), 20/200 (+8.25 -1.25 20deg); fundus: small retinal pigment epithelium- defects in the fovea; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: achromatopsia; visual field: slightly narrowed outer boundaries due to glare; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: No; progression: no 2 1 LOVD
00415236 III-1 PubMed: Ansar 2015 Pakistani family, multiple consanguineous marriages, proband F yes Pakistan Pakistani - - - - retinal disease whole family description: normal night vision, in daylight the patients experience extreme discomfort and exhibit extensive blinking; no additional comorbidities; visual acuity: range from 0.08 to 0.2; Ishihara 24-plate color test: severe defects; proband at 16y: fundus: normal except for loss of the foveal reflex; full field electroretinography: typical of achromatopsia, i.e., (1) normal amplitude and latency of scotopic or rod response in dark-adapted phase at = <30 Hz, subnormal rod response at 120 Hz, (2) absent photopic flicker response with loss of regular sinusoidal waveforms, (3) normal latency but severely diminished amplitude of photopic or single cone flash response; oscillatory potentials during scotopic responses at 30 Hz presumably indicating amacrine cell function during the rod respon 1 1 LOVD
00415237 III-4 PubMed: Ansar 2015 Pakistani family, multiple consanguineous marriages, proband's second cousin 1 F yes Pakistan Pakistani - - - - retinal disease whole family description: normal night vision, in daylight the patients experience extreme discomfort and exhibit extensive blinking; no additional comorbidities; visual acuity: range from 0.08 to 0.2; Ishihara 24-plate color test: severe defects 1 1 LOVD
00415238 III-5 PubMed: Ansar 2015 Pakistani family, multiple consanguineous marriages, proband's second cousin 2 M yes Pakistan Pakistani - - - - retinal disease whole family description: normal night vision, in daylight the patients experience extreme discomfort and exhibit extensive blinking; no additional comorbidities; visual acuity: range from 0.08 to 0.2; Ishihara 24-plate color test: severe defects 1 1 LOVD
00415239 IV-1 PubMed: Ansar 2015 Pakistani family, multiple consanguineous marriages, proband's second cousin 3's son M yes Pakistan Pakistani - - - - retinal disease whole family description: normal night vision, in daylight the patients experience extreme discomfort and exhibit extensive blinking; no additional comorbidities; visual acuity: range from 0.08 to 0.2; Ishihara 24-plate color test: severe defects 1 1 LOVD
00415240 ? PubMed: Xu 2015 - F - - white - - - - retinal disease distance visual acuity right, left eye: 20/200, 20/400; no ocular misalignment, bilateral, symmetrical pendular nystagmus; refractive error right, left eye: +7.00, +7; anterior segment and pupillary examination: normal; intraocular pressure right / left eye: normal (9 mm Hg / 12 mm Hg); funduscopy: pigmentary changes in the macular region of both eyes, peripheral retinae appeared relatively normal and without obvious pigmentation, and mildly narrowed retinal arterioles; electroretinogram: very poor single flash electroretinogram responses featuring no significant a- or b-waves, 30-Hz flickers present but at very low amplitude; visual evoked potentials: within normal ranges; spectral domain optical coherence tomography: poor foveal contours with some apparent retention of the inner layers of the retina, patchy loss of the ellipsoid zone in both foveae; fluorescein angiography: window defects in both foveae and possibly an area of avascular retina in the temporal periphery in the right eye; no syndromic abnormalities 2 1 LOVD
00415279 34 PubMed: Alfares 2018 - M - - - - - - - retinal disease OMIM: 616517; developmental delay, speech delay, decreased vision, and light sensitivity 1 1 LOVD
00415296 1 PubMed: Skorczyk-Werner 2017 Polish family, brother of 2 M - Poland Polish - - - - retinal disease born from full-term normal pregnancy, by natural delivery and with no complications; shortly after birth showed the setting-sun eye phenomenon; neurological investigations: normal results; 6m: marked photophobia; ophthalmological examination: reduced visual acuity; best corrected visual acuity ranged from 0.1 to 0.2; able to recognize the majority of colours in everyday life (even such as pink, orange, purple or brown), but sometimes confuses colours; colour vision tested using Ishihara colour plates in standard conditions: recognized plates number 1, 6-9 and 14-17 easily, and partially plates number 23 (such as patients with deuteranopia) and 24 (such as patients with protanopia), the rest of the plates not recognized; full-field flash electroretinogram 5y: cone responses totally extinguished, rod responses decreased; repeated 9y, and also the rod responses extinguished, showing a progressive nature of the electroretinographic changes observed in the patient; optical coherence tomography: no visible fo contours, foveal hypoplasia and missing foveal pit, subfoveal atrophy of the photoreceptor layer 1 1 LOVD
00415297 2 PubMed: Skorczyk-Werner 2017 Polish family, sister of 1 F - Poland Polish - - - - retinal disease born from full-term normal pregnancy, by natural delivery and with no complications; shortly after birth showed the setting-sun eye phenomenon; neurological investigations: normal results; 3m - congenital nystagmus, 6m: marked photophobia; ophthalmological examination: reduced visual acuity; best corrected visual acuity ranged from 0.1 to 0.2; able to recognize the majority of colours in everyday life (even such as pink, orange, purple or brown); colour vision tested using Ishihara colour plates in standard conditions: able to recognize plates number 1, 14-17 (with some difficulties) and partially plates number 2 (such as individuals with red-green deficiency) and 23 (such as patients with deuteranopia), the rest of the plates not recognized; full-field flash electroretinogram 6y: totally extinguished photopic responses and reduced scotopic; optical coherence tomography: no visible foveal contours, foveal hypoplasia and missing foveal pit, subfoveal atrophy of the photoreceptor l 1 1 LOVD
00415307 AV_10962 PubMed: Mastey 2019 - F - - - - - - - retinal disease axial length, mm right/left eye: 22.6/22.55; disrupted foveal anatomy; confocal adaptive optics scanning light ophthalmoscopy: the majority of features at the fovea seemed to be retinal pigment epithelial (RPE) cells, observed as hyporeflective, hexagonal structures that did not align to any distinct features in the split-detection modality, but rather directly aligned with the dark-field RPE mosaic; occasional isolated cone-like structures were observed in the split-detection images; parafoveal photoreceptor mosaic has density consistent with the normal rod, not cone, mosaic 1 1 LOVD
00415308 TM_11446 PubMed: Mastey 2019 - M - - - - - - - retinal disease axial length, mm right/left eye: 24.42/24.51; disrupted foveal anatomy; confocal adaptive optics scanning light ophthalmoscopy: the majority of features at the fovea seemed to be retinal pigment epithelial (RPE) cells, observed as hyporeflective, hexagonal structures that did not align to any distinct features in the split-detection modality, but rather directly aligned with the dark-field RPE mosaic; occasional isolated cone-like structures were observed in the split-detection images; parafoveal photoreceptor mosaic has density consistent with the normal rod, not cone, mosaic 2 1 LOVD
00419732 Patient 1 PubMed: Ritter 2020 parents first cousins; in the same publication Patint 2 has already been reported in Kohl 2015 F yes - South Asian - - - - retinal disease 2m: nystagmus and poor vision noted at the age of 2 months; never able to name colours; no other general medical condition; no family history of eye disease; ocular examination: best-corrected visual acuity: 6/60 bilaterally; mildly myopic; anterior segment: unremarkable with a clear visual axis; fundoscopy: symmetrical, well-demarcated excavated lesions at the central macula of both eyes, peripheral retina unremarkable; fundus autofluorescence: macular lesions hypoautofluorescent with a mildly hyperautofluorescent border; optical coherence tomography: deep, excavated lesions with loss of inner and outer retinal layers in both eyes; the left eye possibly had an associated scleral protrusion; electrophysiological examination: rod-specific (DA 0.01) and bright flash dark-adapted (DA 10.0) electroretinograms: no clinically significant abnormality; mildly subnormal dark-adapted 10.0 a-wave amplitude, not uncommon in patients lacking a cone photoreceptor contribution to the dark-adapted a-wave; 30-Hz flicker electroretinograms: undetectable; detectable low-amplitude single-flash photopic electroretinograms (LA 3.0) with the b-wave timing (approximately 50 ms) and shape suggestive of an S-cone origin; pattern electroretinograms: severe reduction in both eyes, indicating severe macular dysfunction 1 1 LOVD
00419733 - PubMed: Lee 2020 family A, sibling 1 M - - - - - - - retinal disease infancy: nystagmus, impaired visual acuity, and photophobia; fundus examination: crowded optic discs in both eyes; mild macular atrophy; fundus autofluorescence: mild foveal hyperautofluorescence; spectral domain-optical coherence tomography: severe foveal hypoplasia in the right and left eyes and focal disruption in the inner segment ellipsoid layer at the site of the presumed foveal pit; photopic full-field (light-adapted 3.0) electroretinogram: defective (barely detectable) amplitudes for the a-wave and b-wave responses 1 1 LOVD
00419734 - PubMed: Lee 2020 family A, sibling 2 - - - - - - - - retinal disease - 1 1 LOVD
00419735 - PubMed: Lee 2020 family B M - - - - - - - retinal disease - 2 1 LOVD
Legend   How to query  

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.