All individuals with variants in gene FDXR

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00147019 Fam1 PubMed: Paul 2017 3-generation family, 4 affecteds (4F), unaffected heterozygous carrier parents/relatives F yes Tunisia - - - - - ANOA;MMDS9A see paper; ... 1 4 Johan den Dunnen
00147020 Fam2Pat5 PubMed: Paul 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Algeria - - - - - ANOA;MMDS9A see paper; ... 2 1 Johan den Dunnen
00147021 Fam3Pat6 PubMed: Paul 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - ANOA;MMDS9A see paper; ... 2 1 Johan den Dunnen
00147022 Fam3Pat7/8 PubMed: Paul 2017 2-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents F no Azerbaijan;Russia - - - - - ANOA;MMDS9A see paper; ... 2 2 Johan den Dunnen
00458006 Fam1Pa1(tII3) PubMed: Peng 2017 2-generation family, brother/sister affected, unaffected heterozygous carrier parents F no Mexico Hispanic - - - - ? see paper; ..., no microcephaly; optic atrophy; MRI brain delayed myelination; no seizures; global development delay; regression; hypotonia; no spasticity 1 2 Johan den Dunnen
00458007 Fam1Pat2(II2) PubMed: Peng 2017 brother M no Mexico Hispanic - - - - ? see paper; ..., no microcephaly; optic atrophy; MRI brain abnormal corpus callosum, diffusion globi palladi, diffusion midbrain, diffusion of the central and cortical atrophy; no seizures; global development delay; regression; hypotonia; no spasticity; abnormal mitochondrial morphology, loss cristae 1 1 Johan den Dunnen
00458008 Pat2 PubMed: Peng 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States Hispanic - - - - ? see paper; ..., no microcephaly; optic atrophy likely; MRI brain normal; EEG normal; no global development delay; no regression; spasticity; ataxia 2 1 Johan den Dunnen
00458009 Pat3 PubMed: Peng 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - ? see paper; ..., microcephaly; optic atrophy; MRI brain normal; no seizures; EEG normal; global development delay; regression; hypotonia; spasticity; movement disorder; abnormal shape 1 1 Johan den Dunnen
00458010 Pat4 PubMed: Peng 2017 2-generation family, 1 affected, unaffected parents M - - Hispanic 2.3y - - - ? see paper; ..., 2.3y-deceased; optic atrophy; MRI brain decreased corpus callosum, chronic extra-axial collections in bilateral frontal convexities abnormal frontal lobe; no seizures; EEG diffuse cerebral function; global development delay; regression; hypotonia; no spasticity; no ataxia 1 1 Johan den Dunnen
00458011 Pat5 PubMed: Peng 2017 3-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Hispanic - - - - ? see paper; ..., microcephaly; optic atrophy; MRI brain increased cerebellar atrophy, decreased cerebral white matter, decreased basal ganglia, decreased signals globus palladia and substantia nigra; EEG severe encephalopathy; global development delay; regression; hypotonia; spasticity; elongated and abnormally shaped mitochondria, abnormal morphology 2 1 Johan den Dunnen
00458012 FamPat6(II2) PubMed: Peng 2017 2-generation family, affected brother/sister, unaffected parents F - United States - - - - - ? see paper; ..., no optic atrophy; MRI brain abnormal basal ganglia and mesencephalic peduncles signal; no seizures; EEG normal; global development delay; regression; no hypotonia; spasticity 2 2 Johan den Dunnen
00458013 Pat7 PubMed: Peng 2017 2-generation family, 1 affected, unaffected parents M no China - - - - - ? see paper; ..., microcephaly; optic atrophy; MRI brain cerebral atrophy, abnormal white matter periventricular signal; nfantile spasms, seizures; EEG chaotic background with spasm; global development delay; regression; no hypotonia; no spasticity 2 1 Johan den Dunnen
00458014 Pat8 PubMed: Peng 2017 2-generation family, 2 affected sisters, unaffected parents F yes Iran - - - - - ? see paper; ..., microcephaly; no optic atrophy; global development delay; regression; no spasticity; ataxia 1 2 Johan den Dunnen
00458015 Pat9 PubMed: Peng 2017 3-generation family, 1 affected, unaffected parents M no United States white - - - - ? see paper; ..., no microcephaly; optic atrophy; MRI brain normal; no seizures; EEG normal; global development delay; regression; hypotonia; spasticity; no ataxia; increased mitochondrial number 2 1 Johan den Dunnen
00458016 Pat10 PubMed: Peng 2017 2-generation family, 1 affected, unaffected parents F no - white - - - - ? see paper; ..., no microcephaly; optic atrophy likely; MRI brain swelling of the cerebellum; no seizures; global development delay; regression; hypotonia; no spasticity; ataxia 2 1 Johan den Dunnen
00458017 Pat11 PubMed: Peng 2017 2-generation family, 1 affected, unaffected parents M - - - - - - - ? see paper; ..., no microcephaly; optic atrophy; MRI brain normal; no seizures; global development delay; no regression; hypotonia; abnormal movements 1 1 Johan den Dunnen
00458018 Pat12 PubMed: Peng 2017 2-generation family, 1 affected, unaffected parents M - - - - - - - ? see paper; ..., optic atrophy; MRI brain cerebral atrophy; seizures; EEG slow wave; global development delay; no regression; hypotonia; spasticity; ataxia 2 1 Johan den Dunnen
00458019 FamPat13(II2) PubMed: Peng 2017 2-generation family, 2 affected brothers, unaffected parents M - - Hispanic - - - - ? see paper; ..., no microcephaly; optic atrophy; MRI brain normal; no seizures; EEG normal; global development delay; regression; hypotonia; spasticity 1 2 Johan den Dunnen
00458023 Pat1 PubMed: Slone 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - NDD see paper; ..., 29w-birth emergency cesarean section (maternal pre-eclampsia)2m in neonatal intensive care unit; global developmental delay (speech, fine motor, gross motor skills); 2y-sudden onset of ataxia, MRI brain normal; speech delay, axial hypotonia, ataxic gait, nystagmus, poor vision; 3y10m-no regression, no seizures, ambulatory with orthotics, speech 3-4 word phrases 2 1 Johan den Dunnen
00458024 Pat2 PubMed: Slone 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - NDD see paper; ..., 10.5m-deceased; 30w+6-birth cesarean section because (worsening maternal hypertension), weight 1130g, 2.5m in neonatal intensive care poor feeding, abdominal distension, initial respiratory distress syndrome; small optic nerves; MRI brain 2m-bilateral thin optic nerves, cerebellar vermis hypoplasia; 4m-bilateral cataracts, urogenital sinus, normal kidneys, normal bladder, normal uterus with gonads; 7m-bilateral immature ovarian parenchyma 2 1 Johan den Dunnen
00458026 FamPat1 PubMed: Masnada 2023 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Gambia - - - - - ? see paper; ..., 9y-nocturnal enuresis; 10y-walking disturbances; retinal dystrophy; no ophtalmoplegia; no nistagmus; no cataract; no microcephaly; no seizures; no pyramidal signs; no dystonia; no tremor; ataxia; lost deambulation; no hypotonia; no developmental delay; no developmental regression; no speech problems; no neuorosychiatric disordes; no recurrent infections; no clinical picture after infections; no encephalopatic episodes; optic neuropathy; acoustic neuropathy; peripheral neuropathy; sensory-motor neuropathy; MRI brain normal; MRI spinal cord normal 1 2 Johan den Dunnen
00458027 FamPat2 PubMed: Masnada 2023 sister F yes Gambia - - - - - ? see paper; ..., 7y-severe abdominal pain, acute onset flaccid paralysis with loss of trunk control, autonomous deambulation, mild dysarthria, diffuse hypotonia, upper limb hyperreflexia, proximal weakness, lower limb areflexia, flaccid paralysis, dysesthesia, pain in distal regions; no retinal dystrophy; no ophtalmoplegia; no nistagmus; no cataract; no microcephaly; no seizures; pyramidal signs; no dystonia; no tremor; ataxia; lost deambulation; hypotonia; no developmental delay; no developmental regression; no speech problems; no neuorosychiatric disordes; recurrent infections; acute onset of flaccid paralysis; no encephalopatic episodes; optic neuropathy; no acustic neuropathy; peripheral neuropathy; sensory-motor neuropathy; slight chiasm and optic narves atrophy; MRI brain normal; MRI spinal cord T2 hyperintensity posterior columns, posterior roots contrast enhancement; CSF analisys normal; onset GBS-like 1 1 Johan den Dunnen
00458030 Pat1 PubMed: Stenton 2021 - F - Germany - - - - - ? see paper; ..., hearing impairment; optic atrophy; myopathy, hypotonia, ptosis, ophthalmoplegia; dystonia, ataxia, polyneuropathy; MRI brain basal ganglia lesions, bilateral optic atrophy; no infection related deterioration; type I diabetes mellitus, psychiatric disorder 2 1 Johan den Dunnen
00458031 Pat2 PubMed: Stenton 2021 - M - Germany - 11m - - - ? see paper; ..., 11m-deceased; no hearing impairment; optic atrophy; myopathy; developmental delay, seizures, nystagmus; MRI brain basal ganglia lesions, bilateral optic atrophy; infection related deterioration; anemia, raised CSF lactate, respiratory insufficiency 2 1 Johan den Dunnen
00458032 Fam3Pat1 PubMed: Stenton 2021 - F - Germany - - - - - ? see paper; ..., hearing impairment; no optic atrophy; microcephaly, developmental regression, movement disorder, ataxia; MRI brain normal; infection related deterioration 2 2 Johan den Dunnen
00458033 Fam3Pat1 PubMed: Stenton 2021 - M - Germany - - - - - ? see paper; ..., no hearing impairment; no optic atrophy; microcephaly, movement disorder, ataxia; infection related deterioration 2 1 Johan den Dunnen
00458034 Pat4 PubMed: Stenton 2021 - M - Poland - 17m - - - ? see paper; ..., 17m-deceased; hearing impairment; optic atrophy; microcephaly, developmental regression, progressive encephalopathy, hypotonia; MRI brain delayed myelination, cerebral atrophy; no infection related deterioration; cataract, respiratory distress, feeding difficulties 2 1 Johan den Dunnen
00458035 Pat5 PubMed: Stenton 2021 - F - France - - - - - ? see paper; ..., hearing impairment; optic atrophy; developmental regression, spasticity, ataxia; MRI brain cerebral atrophy, cerebellar atrophy, bilateral optic atrophy; no infection related deterioration 1 1 Johan den Dunnen
00458036 Pat6 PubMed: Stenton 2021 - F - - Hispanic - - - - ? see paper; ..., no hearing impairment; optic atrophy; hypotonia; global developmental delay, developmental regression, non-ambulatory; MRI brain bilateral optic atrophy; no infection related deterioration; retinal dystrophy, strabismus 1 1 Johan den Dunnen
00458141 SRF-F1 PubMed: Wei 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - OPA see paper; ..., light perception oculus uterque (both eyes); night blindness; cataract; cystoid macular edema, thinning ganglion cell layer, discontinuous ellipsoid zone; pale optic nerves, attenuation of the retinal vessels 3) pepper pigmentation variation in the midperiphery retina; hypofluorescence corresponding pigmentation midperipheral retina, hyper autofluorescence ring around fovea; ERG extinguished scotopic and photopic responses; sensorineural hearing loss; MRI brain cerebellar atrophy; ataxia; insomnia; movement disorder 2 1 Johan den Dunnen
00458142 SRF-F2 PubMed: Wei 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - OPA see paper; ..., finger count; night blindness; anterior segment normal; cystoid macular edema, outer retinal atrophy, centrally preserved segment ellipsoid zone; pale optic nerves, distinct spoke wheel pattern in fovea 3) pepper pigmentation on the midperiphery of the retina 4) Few branches of retinal vessels that appeared as white lines; spoke wheel pattern fovea surrounded by a ring of hyper autofluorescence, mottled hypofluorescence around fovea, hypofluorescence corresponding pigmentation peripheral retina; fundus angiography delayed filling; reduced to a small infra-nasal isle; ERG severely reduced scotopic and photopic responses; no hearing impairment; MRI brain normal; seizures; dizziness, fatigue, cold hands/feet; depression; sleeping problems; photophobic 2 1 Johan den Dunnen
00458143 SRF-F3 PubMed: Wei 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - OPA see paper; ..., light perception0.4 oculus uterque (both eyes); night blindness; anterior segment normal; cystoid macular edema, outer retinal atrophy, discontinuousellipsoid zone; pale optic nerve in OS, grayish white pigmentation in the midperiphery; hyper autofluorescence ring around fovea, mottled hypofluorescence peripheral retina; ERG extinguished scotopic and photopic responses; no hearing impairment 2 1 Johan den Dunnen
00458144 SRF-F4 PubMed: Wei 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - OPA see paper; ..., light perception 0.12 OD, 0.15 OS; night blindness; anterior segment normal; outer retinal atrophy, discontinuous ellipsoid zone; pale optic nerves, extensive depigmentation of the retina 3) attenuated retinal vessels that appeared as white lines; hyper autofluorescence ring around fovea, mottled hypofluorescence in almost entire retina; fundus angiography unfilled retinal vessels, widespread window defects; ERG extinguished scotopic and photopic responses; sensorineural hearing loss; recurrent papule; intellectual disability; binocular alternating exotropia 2 1 Johan den Dunnen
00458145 SRF-F5 PubMed: Wei 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - OPA see paper; ..., light perception 0.05 OD, CF/60CM OS; no night blindness; anterior segment normal; normal; pale optic nerves, grayish white pigmentation in the midperiphery 3) attenuated retinal vessels that appeared as white lines; hyper autofluorescence ring around fovea, hypofluorescence corresponding pigmentation midperipheral retina; fundus angiography severe retinal vascular nonperfusion peripheral retina, without posterior pole involvement, widespread window defects; ERG severely reduced scotopic and photopic responses; no hearing impairment; encephalitis attack 2 1 Johan den Dunnen
00458155 Fam1PatIII1 PubMed: Jurkute 2021 3-generation family, 1 affected, unaffected non carrier mother M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., 3y-optic atrophy; no hearing impairment; 11y-ataxia/balance problems; no sensory neuropathy; no motor neuropathy; 11y-dizziness; 12y-dizziness; no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; 3y-nystagmus; 3y-squint; latest best corrected visual acuity hand motions; no constricted visual field; no nyctalopia 2 1 Johan den Dunnen
00458156 Fam2PatII2 PubMed: Jurkute 2021 2-generation family, 2 affected brothers, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., 11y-optic atrophy; 11y-hearing impairment; ataxia/balance problems (late teens); sensory neuropathy (late teens); motor neuropathy (late teens); no dizziness; no tremor; 4y-no retinal dystrophy; 5y-macula edema; 11y-retinal vessels attenuation; 11y-cataract; no nystagmus; no squint; latest best corrected visual acuity light perception; constricted visual field; nyctalopia 2 2 Johan den Dunnen
00458157 Fam2PatII1 PubMed: Jurkute 2021 brother M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., 14y-optic atrophy; Yes (late teens); ataxia/balance problems (late teens); sensory neuropathy (late teens); motor neuropathy (late teens); no dizziness; no tremor; 14y-no retinal dystrophy; no macula edema; 1yy-retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity 0.06 and 0.1; constricted visual field; no nyctalopia 2 1 Johan den Dunnen
00458158 Fam3PatIII1 PubMed: Jurkute 2021 3-generation family, 1 affected, unaffected non carrier mother M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., 7y-optic atrophy; 20y-hearing impairment; no ataxia/balance problems; no sensory neuropathy; no motor neuropathy; dizziness (late teens); 15y-dizziness; 7y-no retinal dystrophy; no macula edema; 8y-retinal vessels attenuation; 18y-cataract; 14y-nystagmus; 16y-squint; latest best corrected visual acuity hand motions and light perception; constricted visual field; nyctalopia 2 1 Johan den Dunnen
00458159 Fam4PatII1 PubMed: Jurkute 2021 2-generation family, 1 affected, unaffected non carrier father M - United States - - - - - NDD see paper; ..., 25y-optic atrophy; no hearing impairment; no ataxia/balance problems; 22y-sensory neuropathy; 22y-motor neuropathy; no dizziness; no tremor; no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity light perception fingercount and 6/36; no constricted visual field; no nyctalopia 2 1 Johan den Dunnen
00458160 Fam5PatII4 PubMed: Jurkute 2021 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - NDD see paper; ..., 40s-optic atrophy; 40s-hearing impairment; 40s-no ataxia/balance problems; 40s-sensory neuropathy; 40s-motor neuropathy; no dizziness; no tremor; no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity light perception 6/36 and 6/24; no constricted visual field; no nyctalopia 2 1 Johan den Dunnen
00458161 Fam6PatII1 PubMed: Jurkute 2021 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., childhood onset; >7y-optic atrophy; no hearing impairment; ataxia/balance problems (childhood); sensory neuropathy (childhood); no motor neuropathy; no dizziness; no tremor; 7y-no retinal dystrophy; no macula edema; no retinal vessels attenuation; 18y-cataract; >7y-nystagmus; no squint 2 1 Johan den Dunnen
00458162 Fam7PatII3 PubMed: Jurkute 2021 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., 7y-optic atrophy; no hearing impairment; 2.5y-ataxia/balance problems; no sensory neuropathy; no motor neuropathy; no dizziness; no tremor; 7y-no retinal dystrophy; 17y-macula edema; retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity light perception 6/12 and 6/18; constricted visual field 2 2 Johan den Dunnen
00458163 Fam7PatII1 PubMed: Jurkute 2021 sister F - United Kingdom (Great Britain) - - - - - NDD see paper; ..., 3.5y-optic atrophy; no hearing impairment; 15y-ataxia/balance problems; no sensory neuropathy; no motor neuropathy; no dizziness; no tremor; 3.5y-no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity light perception 6/36; constricted visual field 2 1 Johan den Dunnen
00458164 Fam8PatII1 PubMed: Jurkute 2021 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - NDD see paper; ..., 42y-optic atrophy; 42y-hearing impairment; 42y-ataxia/balance problems; 42y-sensory neuropathy; 42y-motor neuropathy; no dizziness; no tremor; possible no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; no nystagmus; no squint 2 1 Johan den Dunnen
00458165 patient PubMed: Yang 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - DD see paper; ..., 36w-birth, weight 2,800 g (50th centile), OFC 34 cm (75th centile), unexplained jaundice; 9m-developmental delay, unable to lift head stably, unable to turnover, eyes do not track properly, hypotonia; MRI brain T1 signal globus pallidus both sides slightly higher, T2W signal paraventricular white matter both sides slightly higher, cerebral grooves each lobe cerebral hemisphere slightly deeper, ventricles both sides full, subarachnoid cavities both sides slightly wider, normal cerebellum/brain stem, midline structurenot displaced 2 1 Johan den Dunnen
00458168 patient PubMed: Hu 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents - - China - - - - - ? see paper; ... 2 1 Johan den Dunnen
00458169 SB1113Pat1825 PubMed: Kim 2024 4-generation family, 1 affected, unaffected heterozygous carrier relatives F - Korea - - - - - HL see paper; ..., childhood progressive hearing loss; postlingual progressive auditory neuropathy spectrum disorder, auditory neuropathy, optic atrophy; childhood visual impairment 1 1 Johan den Dunnen
00458170 patient PubMed: Song 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - OPA see paper; ..., 12y-blurred vision, visual acuity both eyes decreased gradually for 6m,stable thereafter; optic nerve atrophy 2 1 Johan den Dunnen
00461161 F020P021II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., congenital; best corrected visual acuity (first visit) OD normal light perception/OS normal light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV/OS diffuse pale optic disc, ARV; bilateral cataract; developmental delay, hypotonia 2 1 Johan den Dunnen
00461162 F021P022II-1 PubMed: Zheng 2024 - F - China - - - - - OPA see paper; ..., congenital; best corrected visual acuity (first visit) OD normal light perception/OS normal light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nystagmus; developmental delay 2 1 Johan den Dunnen
00461163 F022P023II-2 PubMed: Zheng 2024 - F - China - - - - - OPA see paper; ..., congenital; best corrected visual acuity (first visit) OD normal light perception/OS normal light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nystagmus; intellectual disability 2 1 Johan den Dunnen
00461164 F023P024II-1 PubMed: Zheng 2024 - F - China - - - - - OPA see paper; ..., congenital; best corrected visual acuity (first visit) OD normal light perception/OS normal light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nystagmus; developmental delay, muscle weakness 2 1 Johan den Dunnen
00461165 F024P025II-1 PubMed: Zheng 2024 - F - China - - - - - OPA see paper; ..., congenital; best corrected visual acuity (first visit) OD 0.05/OS light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; bilateral nystagmus; muscle weakness 2 1 Johan den Dunnen
00461166 F025P026II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.1/OS 0.025; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; bilateral nyctalopia; hypotonia 2 1 Johan den Dunnen
00461167 F026P027II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD hand movement/OS hand movement; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; bilateral nyctalopia; hypotonia 2 1 Johan den Dunnen
00461168 F027P028II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.3/OS 0.3; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nyctalopia, bilateral strabismus; hypotonia 2 1 Johan den Dunnen
00461169 F028P029II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., subcute onset; best corrected visual acuity (first visit) OD 0.03/OS light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nystagmus; hypotonia 2 1 Johan den Dunnen
00461170 F029P030II-1 PubMed: Zheng 2024 - F - China - - - - - OPA see paper; ..., subcute onset; best corrected visual acuity (first visit) OD 0.2/OS 0.25; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; bilateral nyctalopia; hypotonia 2 1 Johan den Dunnen
00461171 F030P031II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD hand movement/OS 0.04; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD/OS diffuse pale optic disc, ARV, sand-like retinal degeneration; electrophysiology severely reduced (rod/cone); hypotonia 2 1 Johan den Dunnen
00461172 F031P032II-1 PubMed: Zheng 2024 - F - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.08/OS 0.06; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD/OS diffuse pale optic disc, ARV, sand-like retinal degeneration; electrophysiology moderately reduced (rod/cone); hypotonia 2 1 Johan den Dunnen
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