All individuals with variants in gene UBAP1L

15 entries on 1 page. Showing entries 1 - 15.
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     
00447995 FamIPatIII1 Han 2024, submitted 3-generation family, affected brother sister, unaffected parents M - Hungary - - - - - retinal disease see paper; ..., 25y-abnormal retinal findings (incidental; nyctalopia, VA loss, 33y-color vision deficit; refraction OD -11.0/+1.00x120, OS -10/+1.5x65; best corrected visual acuity OU 20/32 (25y), OU 20/50 (33y), OD 20/60; OS 20/50 (37y); 25y-Goldmann VF (OU) ring scotoma;37y-Goldmann VF (OU) about 8 degrees remaining, temporal crescent island (V4e target); 25y-bone spicule pigment deposits in the mid-periphery; 33y-OCT (OU) visible photoreceptors central macula; 37y-OCT (OU) bruch membrane ruptures posterior pole; 38y-OCT (OU) small intact central island; full field ERG 25y-extinguished rod and diminished cone responses; 25y-faint posterior subcapsular cataracts; Cambridge Colour Test measurable protan and deutan thresholds with abolished tritan thresholds 1 2 Susanne Roosing
00447996 FamIPatIII2 Han 2024, submitted sister F - Hungary - - - - - retinal disease see paper; ..., 30y-abnormal full-field ERG; refraction OD -7.0/0.0, OS -9.0/0.0; best corrected visual acuity OU 20/20 (30y); full field ERG 30y-abnormal rod and cone responses 1 1 Susanne Roosing
00447997 FamIIPatII2 Han 2024, submitted 3-generation family, 3 affected sibs (F, 2M), unaffected parents M - United States - - - - - retinal disease see paper; ..., 38y-nyctalopia, VA loss, photo-aversion OS; prior retinal detachments OD; refraction highly myopic; best corrected visual acuity OD no light perception (phthisis), OS 20/500 (38y); 38y-kinetic VF (OS) two temporal crescent islands (V4e target); 38y-static VF (OS) severely decreased sensitivity; 38y-pale disc, retinal vessel attenuation, macular and mid-peripheral atrophy with few bone spicules; 38y-OCT (OS) Loss of outer retinal structure, ERM, SHRM, choroidal atrophy; 38y-FA (OS) arm-to-eye time 35 sec, no vasculitis or disc leakage 1 1 Susanne Roosing
00447998 FamIIIPatIII1 Han 2024, submitted 4-generation family, 1 affected, unaffected parents M - Israel Africa-N;jew - - - - retinal disease see paper; ..., 22y-nyctalopia; best corrected visual acuity OU 20/30 (30y, OU hand motion (54y); 35y-Goldmann VF (OU about 5 central degrees remaining; 54y-waxy pallor optic nerve head, attenuation retinal vessels, confluent pigment changes in mid-periphery, macular atrophy; full field ERG 30y-diminished cone and rod waves; 30y-color vision abnormalities 1 1 Susanne Roosing
00447999 FamIVPatII1 Han 2024, submitted 2-generation family, 1 affected, unaffected parents F yes Israel Arab;Muslim - - - - retinal disease see paper; ..., refraction OD -4.25/-0.50x132, OS -4.25/-1x55; best corrected visual acuity OU counting fingers (49y); 49y-pale discs with macular scars without bone spicules; full field ERG 49y-reduced rod and cone responses 1 1 Susanne Roosing
00448000 FamVPatII2 Han 2024, submitted 3-generation family, 1 affected, unaffected parents F - Israel jew-Ashkenazi - - - - retinal disease see paper; ..., 51y-nyctalopia, peripheral vision difficulties; best corrected visual acuity OD 20/50 OS 20/25 (57y); 61y-Goldmann VF (OU) reduced extent (V4e and III4e targets) with greater loss of nasal field; 61y-pigment accumulation retinal midperiphery; 61y-OCT (OU) central island outer nuclear layer that abnormally declined in thickness with eccentricity; 61y-short-wavelength FAF (OU) diffuse RPE pathology; full field ERG 61y-reduced rod and cone responses 1 1 Susanne Roosing
00448001 FamVIPatII2 Han 2024, submitted 3-generation family, affected brother sister, unaffected parents M - Israel Africa-N;jew - - - - retinal disease see paper; ..., 60y-retinal degeneration OU found at the same time as retinal detachment OD; best corrected visual acuity OS 20/25 (62y); static VF (OS) marked narrowing; 62y-extensive bone-spicule–like pigment retinal periphery; 62y-OCT (OU) thinned outer nuclear layer abnormally declining in thickness with increasing eccentricity fovea; 62y-short-wavelength FAF (OU) diffuse RPE pathology with relative sparing superior sector posterior pole; full field ERG 62y-not recordable rod and cone responses; 60y-retinal detachment OD 1 2 Susanne Roosing
00448002 FamVIPatII3 Han 2024, submitted sister F - Israel Africa-N;jew - - - - retinal disease see paper; ..., 40y-nyctalopia; refraction OD -5.0/-4.00x5, OS -3.25/-4.50x50; best corrected visual acuity OU 20/63 (50y); 50y-GVF (OU) constricted (V4e and I4e targets); full field ERG 50y-diminished cone and rod responses 1 1 Susanne Roosing
00448003 FamVIIPatII2 Han 2024, submitted 2-generation family, 1 affected, unaffected parents M - Israel Arab;Christian - - - - retinal disease see paper; ..., color vision deficiency since childhood with progressive deterioration; 15-glasses for mild-moderate myopia; initially good BCVA, in late twenties BCVA began to decline, with a more severe drop between the ages of 30y-37y; refraction OD -3.00/-1.25x41, OS -2.50/- 1.00x15; best corrected visual acuity OU 20/32 (30y), OU 20/63 (35y), OU 20/100 (37y); 30y-small central scotoma both eyes correlates with OCT findings, 31y-similar to previous with slight enlargement of affected area; 30y-mild Bull’s eye maculopathy with central macular atrophy and pigmentary changes in fovea and parafovea, attenuated vessels, no peripheral pigmentary changes, no bone-spicule–like pigment; full field ERG 30y-markedly reduced and delayed cone responses with borderline normal rod responses; 35y-further reduction cone function (from 20uV to 7uV) with mild reduction of rod function 2 1 Susanne Roosing
00448004 FamVIIIPatII9 Han 2024, submitted 3-generation family, 3 affected sibs (2F, M), unaffected parents F yes Netherlands Turkey - - - - retinal disease see paper; ..., mild dark adaptation problems (some difficulties with driving at night); refraction OD -5.50/-0.75x114, OS -4.50/-1.00x88; best corrected visual acuity OD 20/20, OS 20/20 (47y); Goldmann VF OD and OS relative (peri)central scotoma, periphery intact; pink optic discs, mild attenuation of arterioles, foveal sparing, perifoveal RPE alterations, perimacular lipofuscine depositions, in periphery RPE alterations with a few intraretinal hyperpigmentations; OCT perifoveal ring with abnormal/absent EZ; FAF hyperautoflourescent perifoveal ring, macular region hypoautofluorescent dots, deep hypoautofluorescent areas OS>OD (not present at first visit), perimacular some 'flecks', abnormalities posterior pole seem to have a mild radiant pattern; full field ERG dark adapted responses (isolated rod and mixed), within normal values, light adapted responses (30Hz and single flash) severely reduced; sister diagnosed elsewhere with cone-rod dystrophy, brother diagnosed elsewhere with macular dystrophy, both with severely reduced central vision 1 1 Susanne Roosing
00448005 F1362PatCIC03225 PubMed: Zeitz 2024 2-generation family, 1 affected, unaffected heterozygous parents/relatives M yes France Tunisia - - - - retinal disease see paper; ..., 20y-night blindness, progressive visual field constriction 1 1 Johan den Dunnen
00448006 F3377PatCIC06376 PubMed: Zeitz 2024 2-generation family, 1 affected, unaffected parents M yes Tunisia - - - - - retinal disease see paper; ..., cone-rod dystrophy 1 1 Johan den Dunnen
00448007 F5326PatCIC09282 PubMed: Zeitz 2024 2-generation family, 2 affected sisters, unaffected parents F yes France Tunisia - - - - retinal disease see paper; ... 1 2 Johan den Dunnen
00448008 F7544PatCIC13094 PubMed: Zeitz 2024 2-generation family, affected brother/sister, unaffected parents F yes Tunisia - - - - - retinal disease see paper; ..., night blindness 1 2 Johan den Dunnen
00448025 W000375 PubMed: Carss 2017 patient M - - Asia-S - - - - retinal disease - 1 1 Johan den Dunnen
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.