All individuals with variants in gene ROM1

92 entries on 1 page. Showing entries 1 - 92.
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00001783 - - - - - (United States) - - - - - RP - 1 1 Feng Wang
00105022 22ORG1 PubMed: de Castro-Miró 2016 - F no Spain - - - - - retinal disease - 1 1 Marta de Castro-Miró
00204287 - - - - - - - - - - - maculopathy - 1 1 Jana Zernant
00233210 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233211 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233212 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233213 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 21 Yoshito Koyanagi
00233214 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233215 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233216 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 4 Yoshito Koyanagi
00233217 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00308416 CIC05007 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309670 RP038 PubMed: Jinda 2014 - M - Thailand - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309836 - PubMed: Shah 2018 - F - United States white - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00328402 690924 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00328403 680853 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00328404 681086 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00332379 patient PubMed: Essilfie 2018 - F - United States - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00332525 Pat3 PubMed: Comander 2017 - M - United States - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00333353 Pat9 PubMed: Costa 2017 - F - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00334431 RP-111 PubMed: Huang 2017 family - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00334564 RP038 PubMed: Jinda 2017 patient - - Thailand - - - - - retinal disease see paper; ... 1 1 LOVD
00335493 IRD016 PubMed: Bernardis 2016   - - Italy - - - - - retinal disease see paper; ... 2 1 LOVD
00335707 - PubMed: Sullivan 2006 1 family - - United States - - - - - retinal disease - 1 3 Julia Lopez
00335708 - PubMed: Sullivan 2006 1 family - - United States - - - - - retinal disease - 1 1 Julia Lopez
00335709 - PubMed: Sullivan 2006 1 family - - United States - - - - - retinal disease - 1 1 Julia Lopez
00335710 - PubMed: Sullivan 2006 1 family - - United States - - - - - retinal disease - 1 1 Julia Lopez
00335711 - PubMed: Sullivan 2006 1 family - - United States - - - - - retinal disease - 1 1 Julia Lopez
00358968 Case29303 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00358976 Case27419 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00360605 28589 (III-2) {PMID:Poloschek 2010:20335603) Mother IV-1/index case, sister III-4, aunt IV-7, grand mother V-1/V-2/V-7 F no Germany white - - - - retinal disease visual acuity: OD = 0.05, OS = 0.02. Visual field: Stable. Colour vision: not possible to perform testing. 1 1 Manon Peeters
00360606 28590 (IV-1) {PMID:Poloschek 2010:20335603) Son III-2, brother index case, father V-1/V-2, uncle V-4, cousin IV-7, family member III-2 M no Germany white - - - - retinal disease visual acuity: OD = 0.8, OS = 0.7. Visual field: paracentral scotoma from 1 - 10° radius. Colour vision: mild unspecific defects. 1 1 Manon Peeters
00360607 28582 (V-1) {PMID:Poloschek 2010:20335603) Son IV-1, brother V-2, cousin V-4/index case, grand son III-2, familymember III-4, IV-7 M no Germany white - - - - retinal disease visual acuity: OD = 0.9, OS = 0.9. Visual field: OD =normal, OS = paracentral defects 10° from center. Colour vision: normal in both eyes. 1 1 Manon Peeters
00360608 26593 (IV-4) {PMID:Poloschek 2010:20335603) index case, mother V-4, aunt V-1/V-2, daughter III-2, sister IV-1, niece IV-7, family member III-4 F no Germany white - - - - retinal disease visual acuity: OD = 0.2, OS = 0.3. Visual field: OD = paracentral scotoma 10°, sensitivity loss for I/1, and I/2, OS = central scotoma 40° extending temporally. Colour vision: marked protan and deutan defects in both eyes. 1 1 Manon Peeters
00360609 28583 (V-4) {PMID:Poloschek 2010:20335603) Daughter index case, niece V-1/V-2/IV-1, grand daughter III-2, family member III-4/IV-7 F no Germany white - - - - retinal disease visual acuity: OD = 1.0, OS = 1.2. Visual field: supmild constriction (I/3,I/2,I/1) in both eyes, and in OS a paracentral scotoma 5° was observed. Colour vision: normal in both eyes. 1 1 Manon Peeters
00362260 Pat42 PubMed: Bahena 2021 - F yes Iran - - - - - USH - 1 1 Barbara Vona
00363373 HM384 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00368356 RP250 PubMed: Xu 2014 Younger brother affected as well M no China China - - - - retinal disease At the age of 19, the visual acuity was 0.04/0.03 (OD/OS). The fundus showed: attenuated retinal arteries;macular degeneration. ERG response of the rods was: Extinguished and of the cones was Severe. 1 1 Stéphanie Cornelis
00372649 RP053 PubMed: Xu 2014 family F - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372668 RP397 PubMed: Xu 2014 patient M - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372670 RP201 PubMed: Xu 2014 patient F - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372683 RP396 PubMed: Xu 2014 family M - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372695 RP319 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372708 RP200 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372725 RP308 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00375287 K6451 PubMed: Oishi 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00377046 - PubMed: Poloschek-2010 - F - Germany German - - - - retinal disease - 1 1 LOVD
00377047 - PubMed: Poloschek-2010 - M - Germany German - - - - retinal disease - 1 1 LOVD
00379399 - PubMed: Simpson-2011 - - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00379412 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00379413 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00379414 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00379618 - PubMed: Nishiguchi-2012 - - - - European American - - - - Healthy/Control - 1 1 LOVD
00379619 - PubMed: Nishiguchi-2012 - - - - African American - - - - Healthy/Control - 1 1 LOVD
00381055 - PubMed: Chen-2013 - - - China Chinese - - - - retinal disease - 1 1 LOVD
00381647 - PubMed: Eisenberger-2013 - F no Germany - - - - - retinal disease - 2 1 LOVD
00381697 - PubMed: Wang-2014 - - no - - - - - - retinal disease - 1 1 LOVD
00382372 201 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00383080 - PubMed: Anasagasti-2013 - - - Spain - - - - - retinal disease - 1 1 LOVD
00383086 - PubMed: Anasagasti-2013 - - - Spain - - - - - retinal disease - 1 1 LOVD
00383759 RD18070017_A PubMed: Gao 2019 - ? - China - - - - - retinal disease - 1 1 LOVD
00383845 - PubMed: Hariri 2018 - ? - - - - - - - retinal disease BCVA OD-OS: 20/30-20/25 1 1 LOVD
00386186 RPN-271 PubMed: Rodriguez-Munoz 2020 family fRPN-140, family member M - Spain - - - - - retinal disease - 1 1 LOVD
00386187 RPN-297 PubMed: Rodriguez-Munoz 2020 family fRPN-140, proband F - Spain - - - - - retinal disease - 1 1 LOVD
00386256 RPN-551 PubMed: Rodriguez-Munoz 2020 family fRPN-226, proband M - Spain - - - - - retinal disease - 1 1 LOVD
00386287 RPN-461 PubMed: Rodriguez-Munoz 2020 family fRPN-AP, proband F - Spain - - - - - retinal disease - 1 1 LOVD
00387630 15 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - retinal disease - 1 1 LOVD
00392562 P15 PubMed: Verdina 2021 family T M - Italy - - - - - retinal disease best corrected visual acuity right_left eye: 20/50_, affected sector: inferior_ 2 1 LOVD
00416458 HS770_I-1 PubMed: Bascom 1995 family 1, proband M - - - - - - - retinal disease - 2 1 LOVD
00416459 HS770_II-1 PubMed: Bascom 1995 family 1, proband's father M - - - - - - - retinal disease asymptomatic (or presymptomatic, but he would be expected to have manifestations of RP already) 2 1 LOVD
00416460 86-1_II-2 PubMed: Bascom 1995 proband F - - - - - - - retinal disease 54y: noted decreased visual acuity; fundus: diffuse retinal pigment epithelial atrophy; 58y: diagnosis of RP was suggested by the presence in the peripheral retina of some atrophic areas and a few bone spicule-like clumps of pigment; macular degeneration was thought to be 'old cystoid macular edema'; electroretinogram: non-recordable; best corrected visual acuity right, left eye: 20/40, 20/100 1 1 LOVD
00416461 56-1_II-1 PubMed: Bascom 1995 proband M - - - - - - - retinal disease atypical retinitis pigmentosa; 40y: best corrected visual acuity right, left eye: 20/20, 20/40; optic disks pale, one disc area zone of retinal pigment epithelial atrophy centered on fixationin in each eye; yiny drusen-like deposits most notable at the edges of the atrophic areas, right eye:a 1.5x4 disc diameter zone of retinal pigment epithelium atrophy with some clumps of pigment within the atrophic zone; no classic bone spicules; fluorescein angiography: normal choroidal filling with relative hyperfluorescence in the area of retinal pigment epithelium atrophy; electroretinography: essentially normal except for diminished light adapted responses 1 1 LOVD
00416462 10-1_II-2 PubMed: Bascom 1995 proband M - - - - - - - retinal disease 38y: poor night vision and constricted visual fields; electroretinogram: nonrecordable; 50y: fundus: waxy pallor of both optic disks with very attenuated vessels,bone spicule-like pigmentation and RPE atrophy were observed extending from the main temporal arcades to the periphery, and only a small area of retinal epithelium remained unaffected. Visual acuity was 20/100 in the right eye and 20/200 in the left eye 1 1 LOVD
00416464 V-8_I-2 PubMed: Martinez-Mir 1997 family V-8, proband's mother; consanguinity between parents, husband from the same small village, but the pattern of inheritance resembles autosomal dominant, brother affected but deseased, DNA not available F likely Spain Spanish - - - - retinal disease fundus: normal; best corrected visual acuity right, left eye: 0.4, 0.6; visual field: normal; electroretinogram, right, left eye: rod function: 133, 106; cone function: 49, 47; cone and rod function: 240, 204; electrooculogram Arden ratio: <150 2 1 LOVD
00416465 V-8_II-4 PubMed: Martinez-Mir 1997 family V-8, proband; consanguinity between grandparents, parents from the same small village, but the pattern of inheritance resembles autosomal dominant; mother's brother affected but deseased, DNA not available F likely Spain Spanish - - - - retinal disease fundus: diffuse retinitis pigmentosa; best corrected visual acuity: finger counting; visual field: tunnel vision; electroretinogram, right, left eye: rod function: 0, 0; cone function: 8 ,7; cone and rod function: 9, 8 2 1 LOVD
00416466 V-8_II-5 PubMed: Martinez-Mir 1997 family V-8, proband's sister; consanguinity between grandparents, parents from the same small village, but the pattern of inheritance resembles autosomal dominant; mother's brother affected but deseased, DNA not available F likely Spain Spanish - - - - retinal disease fundus: diffuse retinitis pigmentosa; best corrected visual acuity: finger counting; visual field: tunnel vision; electroretinogram, right, left eye: rod function: 0, 0; cone function: 8 ,7; cone and rod function: 9, 8 2 1 LOVD
00416467 3 PubMed: Reig 2000 Spanish family, additional mutation carriers 2, 6, 9 and 11 are unaffected - normal electroretingram and no symptom of disease - - Spain Spanish - - - - retinal disease abundant spicule-like pigmentation, a moderate waxy pallor of both optic discs and attenuated vessels; visual field: severely affected; electroretingram in photopic and scotopic conditions: abolished 1 1 LOVD
00416468 7 PubMed: Reig 2000 Spanish family, additional mutation carriers 2, 6, 9 and 11 are unaffected - normal electroretingram and no symptom of disease - - Spain Spanish - - - - retinal disease abundant spicule-like pigmentation, a moderate waxy pallor of both optic discs and attenuated vessels; visual field: severely affected; electroretingram in photopic and scotopic conditions: abolished 1 1 LOVD
00416469 ? PubMed: Ma 2019 - F - - Polish - - - - retinal disease best-corrected visual acuity: 20/25, 20/40 and remained stable in the following 2 years; history of smoking, no history of ocular trauma or inflammation; brother diagnosed with advanced neovascular age-related macular degeneration; slit-lamp examination of the anterior segment: normal; fundus: revealed healthy optic nerves with no disk pallor and normal retinal vasculature appropriate for age without significant thinning or attenuation, diffuse yellow flecks in the peripheral macula extending out into the mid-periphery; clustered, confluent patterns in the temporal macula arranged radially in the central macula; pigment stippling/mottling around the fovea; flecks autofluorescent with dark borders; spectral-domain optical coherence tomography: loss of foveal pit contour, inner retinal thickening, hyper-reflective inner limiting membrane in the left eye consistent with a developing epiretinal membrane; flecks visible as hyper-reflective deposits traversing photoreceptor layers emanating from the retinal pigment epithelium; ellipsoid zone and external limiting membrane layers are disrupted at the position of flecks, flecks of sufficient height impinged on the outer nuclear layer; microperimetry testing (10-2 visual field pattern): reduced visual sensitivity and function over flecked areas (10-16 dB); foveal fixation was stable (BCEA = 1.26 deg2) at 95.4%; full-field electroretinogram: single flash cone and 30-Hz flicker stimuli: normal waveform amplitudes and no implicit time delays indicating no generalized dysfunction of the cone system 1 1 LOVD
00419693 070227 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - retinal disease - 1 1 Rebekkah Hitti-Malin
00419720 070594 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - retinal disease - 1 1 Rebekkah Hitti-Malin
00419721 070604 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - retinal disease - 1 1 Rebekkah Hitti-Malin
00426046 IV:14 PubMed: Xiao 2017 5-generation family, 33 members with 15 affected members, individual IV:14, son of III:6 M - China Chinese - - - - retinal disease poor binocular vision from an early age; rapid decrease of visual acuity from age 24 on; uncorrected visual acuity: 0.05 with -9.50/-2.50210->0.6+ right eye and 0.02 with -9.25/-2.7525->0.6- left eye; intraocular pressure right/left eye: 15 mm Hg / 18 mm Hg; slit-lamp, anterior segment: transparent cornea, normal anterior chamber depth, round pupil, light reflex sensitivity, transparent lens; indirect ophthalmoscope examination: mottled peripheral retinal pigment epithelium, also in color fundus photographs using retinal camera; fundus changes: waxy yellow optic disc, some visible osteoclastic-like melanin in the retinal equatorial region, and the attenutation of retinal vasculature; ophthalmic AB type ultrasound scan: vitreous body turbidity and posterior vitreous detachment; macular optical coherence tomography: areflexia of nasal and temporal macula oval belt and crack-like dark cavity with low reflection in endodermis of nerve; fluorescein fundus angiography: mottled transmitted fluorescence and blocked fluorescence in peripheral retina and attenuation of retinal blood vessels; visual Įeld analysis using perimetry (Humphrey 740): central tunnel vision (about 10deg) and peripheral visual field defect; standard binocular full-field electroretinogram: did not detect any wav 1 1 LOVD
00426930 33_39 PubMed: Zhu 2022 family 33, individual 39 F - - - - - - - retinal disease - 1 1 LOVD
00429651 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00430097 - PubMed: Panneman 2023 - M - - - - - - - RP - 1 1 Daan Panneman
00447159 MDS-404 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447509 ARRP-467 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447690 SRP-52 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447727 UD-108 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00450983 079830 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - macular dystrophy - 2 1 Rebekkah Hitti-Malin
00451066 066828 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - macular dystrophy - 1 1 Johan den Dunnen
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