All individuals with variants in gene MVK

18 entries on 1 page. Showing entries 1 - 18.
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00000067 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00233234 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233235 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233236 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1202 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 343 Yoshito Koyanagi
00233237 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233774 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1202 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 33 Yoshito Koyanagi
00290591 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290592 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00328506 14008687 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - retinal disease retinal dystrophy (HP:0000556), failure to thrive (HP:0001508), neurodevelopmental abnormality (HP:0012759) 1 1 LOVD
00385163 56 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - retinal disease HP:0001263 Global developmental delay; HP:0000365 Hearing impairment/loss; HP:0000821 Hypothyroidism; HP:0001508 Failure to thrive; HP:0001410 Decreased liver function; HP:0000548 Cone/cone-rod dystrophy 1 1 LOVD
00385166 59 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - retinal disease HP:0010978 Abnormality of immune system physiology; HP:0000510 Rod-cone dystrophy; 2 1 LOVD
00386224 RPN-402 PubMed: Rodriguez-Munoz 2020 family fRPN-183, proband F - Spain - - - - - retinal disease - 1 1 LOVD
00386871 099-076 PubMed: Zampaglione 2020 - ? - - - - - - - retinal disease - 1 1 LOVD
00409859 ? PubMed: Balgobind 2005 - - - - - - - - - retinal disease episodes of fever from the age of 9 months, recurring every 2 -4 weeks, usually, with no infection; during typical fever episodes: profound apathy, painful cervical lymphadenopathy and a macular rash over the extremities; CRP was strongly elevated (148 mg/L) with thrombocytosis but normal white cell counts; investigations into infectious and autoimmune causes: negative; urinary excretion of mevalonic acid: strongly elevated (5.46 mmol/mmol creatinine); mevalonate kinase deficiency confirmed by enzyme activity assay (<1% of mean activity of healthy controls); 3y6m: night blindness; fundoscopy: attenuated arterioles and pigment epithelial atrophy in the mid-periphery; full-field electroretinograms: no responses of rods and cones 2 1 LOVD
00409861 A-II:1 PubMed: Siemiatkowska 2013 family A, proband's older brother M - Netherlands white - - - - retinal disease best corrected visual acuity right, left eye: 20/16, 20/20; refraction right eye: +1.000.50x25, left eye: plano 1.00x145; lens: clear; ophthalmoscopy: mild pallor optic discs, severely attenuated vessels, preserved retinal pigment epithelium macular region with fibrosis inner limiting membrane, foveal cyst right eye, normal foveal reflex left eye, intraretinal hemorrhages and anomalies of the arterioles both eyes, retinal pigment epithelium atrophy in the periphery with intraretinal pigmentations; full-field electroretinogram: dark-adapted: no measurable isolated rod function; remnant of mixed responses; light-adapted: measurable but significantly reduced responses in single flash and 30 Hz with near normal implicit times; perimetry: constricted up to 10 degrees with large temporal and small nasal crescent both eyes; color vision test: right eye: (de)saturated normal, left eye: saturated normal; desaturated minor errors; optical coherence tomography: intact inner and outer segments in the macular region, foveal cyst right eye; thickened retinal layers superior and inferior of the macula; fundus autofluorescence: hyperfluorescent ring around the macula; fluorescein angiography: leakage along the superior and inferior vascular arcade and some staining at the fovea 2 1 LOVD
00409862 A-II:2 PubMed: Siemiatkowska 2013 family A, proband F - Netherlands white - - - - retinal disease best corrected visual acuity right, left eye: 20/25, 20/20; refraction right, left eye: +1.002.75x15, plano 1.00x135; Lens: posterior subcapsular cataract (trace); Ophthalmoscopy: moderate pallor optic discs, moderately attenuated vessels, preserved retinal pigment epithelium macula region with wrinkling inner limiting membrane, retinal pigment epithelium atrophy periphery with intraretinal pigmentations; Full-field electroretinogram, Dark-adapted: no measurable isolated rod function, remnant of mixed responses; Light-adapted: measurable but significantly reduced responses in single flash and 30 hz with prolonged implicit times; Perimetry: large mid-peripheral, absolute, annular scotoma both eyes; Color vision test: right eye: (de)saturated minor errors, no specific axis left eye: (de)saturated normal; Optical coherence tomography: intact inner and outer segments in the macular region; thickened retinal layers superior and inferior of the macula; fundus autofluorescence: hyperfluorescent ring around the macula; strabismus surgery at ages 5, 6, 7 yrs 2 1 LOVD
00409863 B-II:1 PubMed: Siemiatkowska 2013 family B, proband M - Netherlands white - - - - retinal disease subjectively no night blindness, but avoids driving at night; best corrected visual acuity right, left eye: 20/25 20/32; refraction right, left eye: +2.250.75x180, +0.750.25x180; lens: posterior subcapsular cataract (trace); Ophthalmoscopy: pink optic discs, mildly attenuated vessels, preserved retinal pigment epithelium posterior pole and macular region with subtle changes at fovea and mild fibrosis inner limiting membrane, retinal pigment epithelium atrophy in the midperiphery with intraretinal pigmentations (left eye >right eye); Full-field electroretinogram, Dark-adapted: measurable but reduced isolated rod and mixed responses with prolonged implicit times; Light-adapted: measurable but significantly reduced responses in single flash and 30 hz with prolonged implicit times; Perimetry: intact periphery (with v-4e target) with mid-peripheral sensitivity loss right eye, constricted up to 15-20 degrees left eye with large peripheral crescent; Color vision test: both eyes: (de)saturated major errors, no specific axis; Optical coherence tomography: intact inner and outer segments in the macular region, no thickening of retinal layers along the vascular arcade; fundus autofluorescence: hyperfluorescent ring around the macula; exotropia 1 1 LOVD
00447643 USHII-352 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - ? - 1 2 Johan den Dunnen
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