All individuals with variants in gene GNAT2

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00299642 FamGC17880Pat3 PubMed: Arno 2017 3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives F yes - - - - - - retinal disease see paper; ..., 30y-photopsia (HP:0030786), nyctalopia (HP:0000662), field defect; irregular pigmented lesions in periphery (HP:0007703), foveal/parafoveal cysts (HP:?); 30y-PERG borderline on R, subnormal on L, undetectable rod ERG, abnormal cone ERG, severe rod>cone dysfunction; 33y-colour vision Ishihara R 21/23 L 3/23; 36y-fields to confrontation less than 30 degrees; presenting VA logMAR (Snellen) R 0.18 (20/30), L 0.48 (20/60); latest VA logMAR R 0.18 (20/30), L 0.8 (20/125); latest refractive error, dioptres R +2.25/-1.00x5, L +2.00/-1.50x165 1 1 Johan den Dunnen
00308663 - PubMed: Kim 2019 - - - Korea - - - - - retinal disease - 2 1 Global Variome, with Curator vacancy
00320064 - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - retinal disease age: 20y 1 1 Julia Lopez
00324249 - PubMed: Nishiguchi 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00324277 - PubMed: Nishiguchi 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00324278 - PubMed: Nishiguchi 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00324279 - PubMed: Nishiguchi 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00324280 - PubMed: Nishiguchi 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00324281 - PubMed: Nishiguchi 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00324282 - PubMed: Nishiguchi 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00324283 - PubMed: Nishiguchi 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00328175 G007665 PubMed: Carss 2017 - F - United Kingdom (Great Britain) American - - - - retinal disease - 1 1 LOVD
00328502 15011628 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - retinal disease cone dysfunction syndrome (HP:0030637), language delay (HP:0002474) 1 1 LOVD
00332231 JB301 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 2 1 LOVD
00359016 13007934 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - retinal disease - 1 1 LOVD
00374988 JC_1064 PubMed: Dubis 2015 - M - - - - - - - retinal disease see paper; ..., no foveal hypoplasia 1 1 LOVD
00374989 JC_1065 PubMed: Dubis 2015 - M - - - - - - - retinal disease see paper; ..., no foveal hypoplasia 1 1 LOVD
00381138 - PubMed: Sundaram_2014 - M - - - - - - - retinal disease - 1 1 Julia Lopez
00381139 - PubMed: Sundaram_2014 - M - - - - - - - retinal disease - 1 1 Julia Lopez
00381140 - PubMed: Sundaram_2014 - F - - - - - - - retinal disease - 1 1 Julia Lopez
00381141 - PubMed: Sundaram_2014 - M - - - - - - - retinal disease - 1 1 Julia Lopez
00383429 - PubMed: Khan 2019 - F - - - - - - - retinal disease - 1 1 LOVD
00383509 ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - retinal disease - 2 1 LOVD
00384138 RP-2579 PubMed: Martin Merida 2019 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00385171 64 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - retinal disease HP:0000750 Delayed speech and language development; HP:0000548 Cone/cone-rod dystrophy 1 1 LOVD
00386195 RPN-311 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00386197 RPN-315 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00386200 RPN-319 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00386218 RPN-342 PubMed: Rodriguez-Munoz 2020 family fRPN-173, proband M - Spain - - - - - retinal disease - 1 1 LOVD
00388947 231 PubMed: Weisschuh 2020 Filing key number: 80, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00388948 232 PubMed: Weisschuh 2020 Filing key number: 80, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389877 1161 PubMed: Weisschuh 2020 Filing key number: 824, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00390266 G007665 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
00391808 CEI-001 PubMed: Langlo 2014 - M - United States - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00391881 8296 PubMed: Sun 2020 - F - China - - - - - retinal disease fundus: poor foveal reflex 2 1 LOVD
00393982 - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - retinal disease - 2 1 LOVD
00393983 - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - retinal disease - 2 1 LOVD
00393984 - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - retinal disease - 2 1 LOVD
00415550 CHRO53_II:1 PubMed: Kohl 2002 - M - Italy Italian - - - - retinal disease - 2 1 LOVD
00415551 CHRO53_II:2 PubMed: Kohl 2002 - M - Italy Italian - - - - retinal disease - 2 1 LOVD
00415552 CHRO68_II:2 PubMed: Kohl 2002 ancestry same geographic region in southern Italy F likely Italy Southern Italian - - - - retinal disease - 1 1 LOVD
00415553 CHRO87_III4;?;Fam101Pat79 PubMed: Kohl 2002, PubMed: Rosenberg 2004, PubMed: Andersen 2023 family, 2 affected M likely Denmark - - - - - retinal disease 3y: congenital nystagmus and low vision; unrelated parents, born at term after an uncomplicated pregnancy; father red-green color-blind with normal vision, paternal cousin had congenital nystagmus; alternating esotropia and pendular, coarse, horizontal nystagmus present; cycloplegic retinoscopy of the right/left eye: +6.0 D / +8.0; best corrected visual acuity: 0.2; fundus: normal, except for absent foveal reflexes and a slight grayish discoloration in the perifoveal region; 16y: moderate photophobia and some difficulties with color discrimination; best corrected visual acuity right/left eye: 0.1 / 0.1; emmetropia; fundus: golden foveal reflex; identified none of the Ishihara plates, except for the first, but able to name 17 standard colors (DS735) correctly, identified six plates of the AOHRR screening series - mild red-green defect; F-M D-15: with diagonal errors in axes between deutan and scotopic; failed to identify any colors in Berson's blue cone monochromacy test; Nagel anomal; full-field electroretinogram: slightly subnormal scotopic recordings of rod-generated signals in contrast to a complete absence of the cone-elicited flicker, white single flashes on the light-adapting background generated a rod-like response, blue cone signal completely, narrow bandpass filtering - a rudimentary cone flicker response of 0.5 uV; multifocal electroretinogram: no recognizable cone pattern; remaining eye examination, including Goldmann perimetry: unremarkable 30y: refraction: right / left eye:+6.0 D / +7.0 D; best corrected visual acuity right/left eye: 0.05 / 0.1 otherwise status unchanged 1 2 LOVD
00415554 CHRO94_II:3 PubMed: Kohl 2002 - M yes Germany German - - - - retinal disease - 1 1 LOVD
00415555 CHRO22_II:1 PubMed: Kohl 2002 - M yes Turkey Turkish - - - - retinal disease - 1 1 LOVD
00415556 CHRO22_II:2 PubMed: Kohl 2002 - M yes Turkey Turkish - - - - retinal disease - 1 1 LOVD
00415557 V:8 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives M yes - Pakistani - - - - retinal disease whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function 1 1 LOVD
00415558 VI:2 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives M yes - Pakistani - - - - retinal disease whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function 1 1 LOVD
00415559 VI:5 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives F yes - Pakistani - - - - retinal disease whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function 1 1 LOVD
00415560 VI:7 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives M yes - Pakistani - - - - retinal disease whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function 1 1 LOVD
00415561 VII:1 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives M yes - Pakistani - - - - retinal disease whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function 1 1 LOVD
00415562 VII:3 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives F yes - Pakistani - - - - retinal disease whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function 1 1 LOVD
00415563 I:1 PubMed: Pina 2004 French-Canadian family, proband; mutation also carried by unaffected family members: father, brother and son - no segregation - - - French-Canadian - - - - retinal disease - 1 1 LOVD
00415775 F109_386 PubMed: Kellner 2004 - M - - - - - - - retinal disease refraction/astigmatism: sc; best corrected visual acuity: 0.05; nystagmus; fundus: normal 1 1 LOVD
00415776 F109_11 PubMed: Kellner 2004 - M - - - - - - - retinal disease refraction/astigmatism: sc; best corrected visual acuity: 0.0S; nystagmus; fundus: normal 1 1 LOVD
00415781 CHRO87III2;Fam101Pat83 PubMed: Rosenberg 2004, PubMed: Andersen 2023 proband's paternal cousin (Pat79) M - Denmark - - - - - retinal disease 6y: low vision and congenital nystagmus; 30y: no photophobia and any color discrimination difficulties; best corrected visual acuity and refraction right / left eye: 0.2, -4.50 sphere / 0.3, -2.0 sphere, -2.0 cyl x 30deg; horizontal nystagmus, with a rotator component and variable amplitude and frequency; Ishihara plates correctly identified except for plate 12 (87 instead of 97), plate 14 (6 instead of 5), and plate 73 (13 instead of 73) - mistakes may be due to reduced visual acuity as much as to any color vision deficiency; Four of six of the red-green plates in the AOHRR screening series identified, diagnostic series without mistakes; F-M D-15 tests: a few insignificant inversions; LTA and Berson's blue cone monochromacy tests: read correctly, error score of 107 with the F-M 100; in contrast, Nagel anomaloscope: protanomalous color vision defect; electroretinogram: slightly subnormal rod responses and totally absent cone responses to flicker stimulation; small rod-like signal appash stimulation on a light-adapting background; no blue cone response, narrow band-pass filtering: a flicker response near the noise level of 0.2 uV; multifocal electroretinogram: no recognizable cone pattern; remaining eye examinations normal, including biphasic dark adaptometry and Goldmann perimetry 2 1 LOVD
00415783 ACH 3 PubMed: Ouechtati 2011 family ACH, loop 1-G F yes Tunisia Tunisian - - - - retinal disease best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal 1 1 LOVD
00415784 ACH 4 PubMed: Ouechtati 2011 family ACH, loop 1-G F yes Tunisia Tunisian - - - - retinal disease best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal 1 1 LOVD
00415785 ACH 5 PubMed: Ouechtati 2011 family ACH, loop 1-G M yes Tunisia Tunisian - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/200; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal 1 1 LOVD
00415786 ACH 6 PubMed: Ouechtati 2011 family ACH, loop 1-G M yes Tunisia Tunisian - - - - retinal disease best corrected visual acuity right, left eye: 20/100, 20/100; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal 1 1 LOVD
00415787 ACH 42 PubMed: Ouechtati 2011 family ACH, loop 1-G M yes Tunisia Tunisian - - - - retinal disease nystagmus: severe; photophobia 1 1 LOVD
00415788 ACH 30 PubMed: Ouechtati 2011 family ACH, loop 1-G M yes Tunisia Tunisian - - - - retinal disease best corrected visual acuity right, left eye: 20/100, 20/100; nystagmus: transient; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal; additional findings: oligospermia 1 1 LOVD
00415789 ACH 10 PubMed: Ouechtati 2011 family ACH, loop 2-G F yes Tunisia Tunisian - - - - retinal disease best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal 1 1 LOVD
00415790 ACH 22 PubMed: Ouechtati 2011 family ACH, loop 3-G M yes Tunisia Tunisian - - - - retinal disease best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal 1 1 LOVD
00415791 ACH 28 PubMed: Ouechtati 2011 family ACH, loop 4-G M yes Tunisia Tunisian - - - - retinal disease best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: severe; photophobia; cone electroretinogram: no response; fundus: normal 1 1 LOVD
00415792 ACH 29 PubMed: Ouechtati 2011 family ACH, loop 4-G M yes Tunisia Tunisian - - - - retinal disease best corrected visual acuity right, left eye: 20/400, o20/400; nystagmus: severe; photophobia, no colour vision; cone electroretinogram; fundus: normal 1 1 LOVD
00415793 ACH 36 PubMed: Ouechtati 2011 family ACH, loop 5-G F yes Tunisia Tunisian - - - - retinal disease best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: transient; photophobia; cone electroretinogram: no response; fundus: normal 1 1 LOVD
00415794 ACH 43 PubMed: Ouechtati 2011 family ACH, loop 6-G M yes Tunisia Tunisian - - - - retinal disease nystagmus: severe; photophobia 1 1 LOVD
00415795 ? PubMed: Ueno 2016 - M no - - - - - - retinal disease decimal best-corrected visual acuity (BCVA) and refraction right / left eye: 0.09 with -1.5 diopters sphere (DS), -1.5 D cylinder (DC) ax 70deg / 0.08 with -2.75 DS, -2.0 DC ax 180deg; PD-15 test: several crossing lines between the deutan and tritan axes in both eyes - totally color-blind patient; Goldmann perimetry: central scotoma; slit-lamp and ophthalmoscopic examination: no abnormalities; fundus autofluorescence: no specific abnormal patterns ; spectral domain optical coherence tomography horizontal and vertical cross-sectional images: ellipsoid zone clearly intact; cone interdigitation zone unified with the ellipsoid zone, not identified distinctly; bulging of the ellipsoid zone at the central fovea (the foveal bulge) in the vertical image, but not in the horizontal scan images because the image was not centered; full-field scotopic electroretinograms amplitudes dark-adapted 0.01, 3.0, and 10.0: normal; photopic electroretinograms, light-adapted 3.0 and 30 Hz flicker: nonrecordable, indicating normal rod function and an absence of cone function; Adaptive optics (AO) retinal imaging: well-defined cone photoreceptor mosaics; images centered at 500 and 1000 lm nasal and temporal from the fovea - clearly defined cone mosaics; cone mosaic of the patient comparable normal eyes; cone density at the foveal center: too high, cone diameter: too small and exceeded the resolution limits of the camera in the eyes of both the patient and the controls; average axial length of both the patient’s eyes: 23.9 mm; cone densities: at 1000 lm from the fovea on both the nasal and the temporal sides: normal, at 500 lm from the fovea: 15-30 % lower than controls; value at 500 lm from the fovea was below the mean -2 standard deviation of that of the normal ey 1 1 LOVD
00415796 BCM274-II:1 PubMed: Felden 2019 - M - - Chilean / French - - - - retinal disease best corrected visual acuity right, left eye: 20/100, 20/100; refraction right, left eye: -5.5 -0.75/155deg, -7.0 -1/5deg; fundus: modified fundus reflex; optical coherence tomography: foveal thinning and granular ellipsoid zone; fundus autofluorescence: oval hypofluorescent fovea; color vision (test method): tritanomaly; full-field electroretinogram: photopic: reduced flicker: reduced scotopic: normal; photophobia: mild; nystagmus: no 1 1 LOVD
00415797 CHRO1094-II:1 PubMed: Felden 2019 - F - - Morocco - - - - retinal disease best corrected visual acuity right, left eye: 20/100, 20/100; refraction right, left eye: -7.0 -3.75/10deg, -6.75 -3.25/170deg; fundus: myopic fundus with peripapillary atrophy and tilted disc; optical coherence tomography: foveal hyporeflective ellipsoid zone; fundus autofluorescence: Perifoveal hyperfluores -cent ring; color vision (test method): tritanomaly; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes 1 1 LOVD
00415798 CHRO276-II:1 PubMed: Felden 2019 - M - - German - - - - retinal disease best corrected visual acuity right, left eye: 20/125, 20/125; refraction right, left eye: 2.75 -0.75/168deg 3.0 -1.25/8deg; fundus: normal; optical coherence tomography: foveal inner limiting membrane thickening; fundus autofluorescence: normal; color vision (test method): achromat (anomaloscope); full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes 2 1 LOVD
00415799 CHRO330-II:1 PubMed: Felden 2019 - M - - Turkish - - - - retinal disease fundus: normal; full-field electroretinogram: photopic: no response scotopic: normal 1 1 LOVD
00415800 CHRO469-II:1 PubMed: Felden 2019 - F - - Spanish - - - - retinal disease best corrected visual acuity right, left eye: 20/400, 20/400; refraction right, left eye: +4.0 +0.5/70deg, +4.0 +0.5/70deg; fundus: normal; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): achromat (Ishihara); full-field electroretinogram: photopic: no response flicker: no response scotopic: normal; photophobia: yes; nystagmus: yes 1 1 LOVD
00415801 CHRO555-II:1 PubMed: Felden 2019 - M - - Spanish - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: -3.50 -1.25/95deg, -2.25 -1.25/85deg; fundus: Normal,, small peripheral pigment clump; optical coherence tomography: normal; fundus autofluorescence: normal; color vision (test method): abnormal (Ishihara, Farnsworth); full-field electroretinogram: photopic: no response flicker: no response scotopic: normal; photophobia: yes; nystagmus: no 2 1 LOVD
00415802 CHRO589-II:1 PubMed: Felden 2019 - M - - Belgian - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: +2.0+2.0/105deg, +2.5+1.5/75deg; fundus: normal; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): abnormal (Ishihara), color vision possible in daily life; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes 1 1 LOVD
00415803 CHRO684-II:1 PubMed: Felden 2019 - F - - Spanish - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/160; refraction right, left eye: -6.0, -6.0; fundus: normal; optical coherence tomography: normal; fundus autofluorescence: no data; color vision (test method): no data; full-field electroretinogram: photopic: no response flicker: no response scotopic: normal; photophobia: yes; nystagmus: no data 1 1 LOVD
00415804 CHRO73-II:1;Fam202Pat57 PubMed: Felden 2019, PubMed: Andersen 2023 family, 2 affected F - Denmark - - - - - retinal disease best corrected visual acuity right, left eye: 20/240, 20/240; refraction right, left eye: -1.5 -1.0/10deg, -1.5 -1.0/170deg; fundus: normal, slightly pale; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): abnormal (Ishihara); full-field electroretinogram: no data; photophobia: yes; nystagmus: yes 1 2 LOVD
00415805 CHRO73-II:2;Fam202Pat82 PubMed: Felden 2019,PubMed: Andersen 2023 sib M - Denmark - - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: +1.0, +1.0; fundus: macular drusen; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): mixed misplacements (Farnsworth); full-field electroretinogram: photopic: no response flicker: no response scotopic: normal; photophobia: yes; nystagmus: yes 1 1 LOVD
00415806 CHRO752-II:1 PubMed: Felden 2019 - F - - French - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: -4.5 -4/180deg, -3.25 -4.5/180deg; fundus: modified fundus reflex; optical coherence tomography: foveal hyporeflective ellipsoid zone; fundus autofluorescence: no data; color vision (test method): tritanomaly; full-field electroretinogram: photopic: severely reduced flicker: severely reduced scotopic: normal; photophobia: yes; nystagmus: yes 2 1 LOVD
00415807 CHRO798-II:1 PubMed: Felden 2019 - M - - Pakistani - - - - retinal disease best corrected visual acuity right, left eye: <20/120, <20/120; refraction right, left eye: 0.0, 0.0 +1.0/100deg; fundus: modified fundus reflex; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): no data; full-field electroretinogram: no data; photophobia: yes; nystagmus: yes 1 1 LOVD
00415808 CHRO824-II:1 PubMed: Felden 2019 - M - - German - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: +1.75 -4.0/21deg, +0.25 -5.0/167deg; fundus: normal; optical coherence tomography: normal; fundus autofluorescence: normal; color vision (test method): no data; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes 1 1 LOVD
00415809 CHRO946-II:1 PubMed: Felden 2019 - M - - French - - - - retinal disease best corrected visual acuity right, left eye: 20/50, 20/63; refraction right, left eye: +8.0 -2.25/25deg, +8.0 -1.75/5deg; fundus: normal; optical coherence tomography: foveal inner limiting membrane thickening; fundus autofluorescence: normal; color vision (test method): nearly normal; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes 2 1 LOVD
00415810 ZD80-II:1 PubMed: Felden 2019 - F - - German - - - - retinal disease best corrected visual acuity right, left eye: 20/80, 20/63; refraction right, left eye: 0, +0.75 -0.75/28deg; fundus: normal; optical coherence tomography: normal; fundus autofluorescence: normal; color vision (test method): mixed displacements (Lanthony), nearly normal (Farnswort); full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: no 2 1 LOVD
00450845 074078 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - macular dystrophy - 1 1 Rebekkah Hitti-Malin
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