All individuals with variants in gene PRDM13

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00309303 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00333735 916 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - retinal disease clinical category IIG 1 2 LOVD
00333736 917 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - retinal disease clinical category IIG 1 2 LOVD
00377571 FamA PubMed: Small 2016 8-generation family, 51 affected F;M - United States - - - - - macular dystrophy see paper; ... 1 51 Johan den Dunnen
00377572 FamB PubMed: Small 2016 5-generation family, 13 affected (5F, 8M) F;M - United States - - - - - macular dystrophy see paper; ... 1 13 Johan den Dunnen
00377573 FamC PubMed: Small 2016 6-generation family, 18 affected (12F, 3M) F;M - United States - - - - - macular dystrophy see paper; ... 1 18 Johan den Dunnen
00377574 FamD PubMed: Small 2016 3-generation family, 7 affected (2F, 5M) F;M - United States - - - - - macular dystrophy see paper; ... 1 7 Johan den Dunnen
00377575 FamE PubMed: Small 2016 3-generation family, 4 affected (2F, 2M) F;M - United States - - - - - macular dystrophy see paper; ... 1 4 Johan den Dunnen
00377576 FamF PubMed: Small 2016 4-generation family, 8 affected (3F, 5M) F;M - - - - - - - macular dystrophy see paper; ... 1 8 Johan den Dunnen
00377577 FamG PubMed: Small 2016 5-generation family, 15 affected (8F, 7M) F;M - France - - - - - macular dystrophy see paper; ... 1 15 Johan den Dunnen
00377578 FamH PubMed: Small 2016 3-generation family, 5 affected (3F, 2M) F;M - - - - - - - macular dystrophy see paper; ... 1 5 Johan den Dunnen
00377579 FamI PubMed: Small 2016 5-generation family, 14 affected (4F, 10M) F;M - - - - - - - macular dystrophy see paper; ... 1 14 Johan den Dunnen
00377580 FamJ PubMed: Small 2016 3-generation family, 11 affected (3F) F - - - - - - - macular dystrophy see paper; ... 1 3 Johan den Dunnen
00377581 FamK PubMed: Small 2016 5-generation family, 17 affected (11F, 6M) F;M - Belize - - - - - macular dystrophy see paper; ... 1 17 Johan den Dunnen
00377587 MOL1154 PubMed: Namburi 2020 4-generation family, 6 affected (6F) F - Georgia Jewish - - - - macular dystrophy see paper; ... 1 6 Johan den Dunnen
00380104 ? PubMed: Kersten 2018 - M - - - - - - - retinal disease Numerous small hard (cuticular) drusen throughout the macula extending beyond the vascular arches 1 1 LOVD
00408252 FamPatVI3/4 PubMed: Whittaker 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Malta - - - - - NDD see paper; ..., intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, delayed puberty with congenital hypogonadotropic hypogonadism 1 2 Johan den Dunnen
00408253 Pat3 PubMed: Whittaker 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Malta - - - - - NDD see paper; ..., intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, delayed puberty with congenital hypogonadotropic hypogonadism 1 1 Johan den Dunnen
00408254 Fam1PatII1 PubMed: Coolen 2022 2-generation family, 3 affected, unaffected heterozygous carrier parents F yes Tunisia - 25m - - - PCH deceased 25m; birth 39w; no prenatal growth retardation; cerebellar vermis hypoplasia; profound hypotonia; swallowing defect, desaturation, respiratory distress, bradypnea; weight 7kg (-0.8 SD); height 42cm (-0.9 SD); dysphagia, nasogastric tube feeding; absent motor milestones; severe/profound global developmental delay; axial hypotonia; distal hypertonia; spastic tetraplegia; normal deep tendon reflexes; no seizure; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; abnormal ocular movement, suspicion of papillary edema or hypoplasia; microretrognathia; posterior cleft palate; no cardiac abnormalities; no gastrointestinal abnormalities; oxygen therapy required (nasal canula) 1 3 Johan den Dunnen
00408255 Fam1PatII4 PubMed: Coolen 2022 fetus F yes Tunisia - <0d - - - PCH deceased 24w gestation; birth 24w; no prenatal growth retardation; cerebellar vermis hypoplasia; MRI brain supratentorial normal, no cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; no facial dysmorphism; posterior cleft palate; trabecular ventricular septal defect; no gastrointestinal abnormalities; no respiratory system anomalies; mild extremity malpositions 1 1 Johan den Dunnen
00408256 Fam1PatII6 PubMed: Coolen 2022 brother M yes Tunisia - 4m - - - PCH deceased 4m; birth 37w; no prenatal growth retardation; cerebellar vermis hypoplasia; profound hypotonia; swallowing defect, respiratory distress, no cough reflex, bradycardia; dysphagia, nasogastric tube feeding; absent motor milestones; axial hypotonia; distal hypertonia; no seizure; MRI brain supratentorial normal, no cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; bilateral retinal hemorrhages; no facial dysmorphism; no oral cavity findings; ostium secundum atrial septal defect, patent ductus arteriosus; gastroesophageal reflux; oxygen therapy, base of the tongue ptosis, no cough reflex; mild feet malpositions 1 1 Johan den Dunnen
00408257 Fam2PatII1 PubMed: Coolen 2022 2-generation family, 2 affected, unaffected heterozygous carrier parents; fetus F yes Algeria - <0d - - - PCH deceased 31w gestation; no prenatal growth retardation; cerebellar vermis hypoplasia; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; no facial dysmorphism; no oral cavity findings; no cardiac abnormalities; no gastrointestinal abnormalities; no respiratory system anomalies 1 2 Johan den Dunnen
00408258 Fam2PatII2 PubMed: Coolen 2022 brother M yes Algeria - 22d - - - PCH deceased 22d; birth 34w; no prenatal growth retardation; cerebellar vermis hypoplasia; respiratory distress, axial hypotonia; swallowing defect, respiratory distress, recurrent apnea, bradycardia; 1d-height 33.5cm (+1.3 SD); dysphagia, nasogastric tube feeding; absent motor milestones; axial hypotonia; distal hypertonia; no seizure; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, no brainstem hypoplasia; no eye tracking; hypertelorism, epicanthic fold; no oral cavity findings; no gastrointestinal abnormalities; apnea, oxygen therapy required in the context of prematurity 1 1 Johan den Dunnen
00408259 Fam3PatII1 PubMed: Coolen 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Pakistan - - - - - PCH birth 39w; prenatal growth retardation; temperature, HR and BP fluctuations; seizures; temperature, HR and BP fluctuations, respiratory distress; 4y6m-weight 12.2kg (<-2 SD); 44y6m height 46.4cn (-2.7 SD); no dysphagia; delayed motor milestones; severe global developmental delay; axial hypotonia; distal hypertonia; no spastic tetraplegia; reduced deep tendon reflexes; neonatal period focal seizures (on levetiracetam); MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; nystagmus with horizontal gaze, short sighted; no facial dysmorphism; no oral cavity findings; sinus rhythm with occasional marked sinus arrhythmia; no gastrointestinal abnormalities; respiratory distress; postural kyphosis 1 2 Johan den Dunnen
00408260 Fam3PatII2 PubMed: Coolen 2022 sister F - Pakistan - - - - - PCH birth 37w; prenatal growth retardation; temperature, HR and BP fluctuations; temperature, HR and BP fluctuations; 7.7m weight 5kg (-3 SD); 33w5d height 38.3cm (-4.7 SD); no dysphagia; delayed motor milestones; mild global developmental delay; axial hypotonia; distal hypertonia; no spastic tetraplegia; normal deep tendon reflexes; one seizure, on levetiracetam since; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, no cerebellar vermis hypoplasia, no brainstem hypoplasia; no ophthalmological findings; no facial dysmorphism; no oral cavity findings; no cardiac abnormalities; no gastrointestinal abnormalities; no respiratory system anomalies; episodic dystonia 1 1 Johan den Dunnen
00408261 Fam4PatII3 PubMed: Coolen 2022 2-generation family, 1 affected, unaffected parents M yes - Arab 16m - - - PCH deceased 16m; birth 40w; no prenatal growth retardation; respiratory distress, recurrent apnea; respiratory distress, recurrent apnea; weight 5.2kg (-4.5 SD); 1d-height 34cm (-1 SD); height 38cm (-7 SD); dysphagia, nasogastric tube feeding; absent motor milestones; severe global developmental delay; axial hypotonia; distal hypertonia; spastic tetraplegia; reduced deep tendon reflexes; neonatal seizure; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; no ophthalmological findings; hypertrichosis, low anterior hairline, upslanting palpebral fissures, epicanthic folds; no oral cavity findings; no cardiac abnormalities; recurrent vomiting, gastroesophageal reflux; poor respiratory effort, ventilation dependence 1 1 Johan den Dunnen
00415386 8603 PubMed: Bowne 2016 family RFS355; four-generation family M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/80, 20/50; optical coherence tomography focus diopter: 1.61, 1.71; caldera (grade 3) height: 3549, 2930, width: 4170, 3617; depth:671, 398; papillo-caldera distance:2784, 3137 1 1 LOVD
00415387 8687 PubMed: Bowne 2016 family RFS355; four-generation family M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/80, 20/63; optical coherence tomography focus diopter: N/A, 0.31; caldera (grade 3) height: 5095, 4889, width: 6617, 6302; depth:approx. 1191+, approx. 1195+; papillo-caldera distance:3087 (distance measure on fundus color image, no OCT scan available), 3585 1 1 LOVD
00415388 8602 PubMed: Bowne 2016 family RFS355; four-generation family M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/63, 20/63; optical coherence tomography focus diopter: 0.58, 1.07; caldera (grade 3) height: 3990, 4309, width: 5028, 4987; depth:1098, 1222; papillo-caldera distance:2170, 2041 1 1 LOVD
00415389 8686 PubMed: Bowne 2016 family RFS355; four-generation family M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/80, 20/63; optical coherence tomography focus diopter: 0.72, 0.24; caldera (grade 3) height: 3802, 3304, width: 4289, 3498; depth:611, 379; papillo-caldera distance:2292, 2612 1 1 LOVD
00415390 9395 PubMed: Bowne 2016 family RFS355; four-generation family F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/100, 20/16; optical coherence tomography focus diopter: -0.91, -0.15; caldera (grade 3) height: 3468, Grade 1, width: 3083; depth:669; papillo-caldera distance:1968 1 1 LOVD
00415391 8688 PubMed: Bowne 2016 family RFS355; four-generation family F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/63, 20/125; optical coherence tomography focus diopter: 0.91, 1.14; caldera (grade 3) height: 2666, Grade 2, width: 3219; depth:570; papillo-caldera distance:2490 1 1 LOVD
00415415 III:9 PubMed: Silva 2019 family GC4059, patient III:9 (proband) M - - - - - - - retinal disease clinical phenotypes of 15 affected members of Family 1 (GC4059) have been previously described (Godley et al., 1996) 1 1 LOVD
00415416 IV:1 PubMed: Silva 2019 family GC4059, patient IV:1 F - - - - - - - retinal disease clinical phenotypes of 15 affected members of Family 1 (GC4059) have been previously described (Godley et al., 1996) 1 1 LOVD
00415417 IV:5 PubMed: Silva 2019 family GC4059, patient IV:5 M - - - - - - - retinal disease clinical phenotypes of 15 affected members of Family 1 (GC4059) have been previously described (Godley et al., 1996) 1 1 LOVD
00415418 IV:7 PubMed: Silva 2019 family GC4059, patient IV:7 F - - - - - - - retinal disease clinical phenotypes of 15 affected members of Family 1 (GC4059) have been previously described (Godley et al., 1996) 1 1 LOVD
00415419 II:2 PubMed: Silva 2019 family GC21086, patient II:2 (proband) M - - - - - - - retinal disease whole family description: main lesion of the fundus located in the macular region, limited to within the retinal vascular arcades of the posterior pole (Stage 1); further smaller atrophic lesions develop progressively around this central lesion; in Stage 2, slow progression of the chorioretinal atrophy with structurally intact retina remaining at the peripapillary region and at the extreme periphery; second smaller focus of chorioretinal atrophy presents later in the second decade of life and overtime there is further progression of the atrophic lesions during Stage 3 of disease 1 1 LOVD
00415420 III:2 PubMed: Silva 2019 family GC21086, patient III:2 F - - - - - - - retinal disease whole family description: main lesion of the fundus located in the macular region, limited to within the retinal vascular arcades of the posterior pole (Stage 1); further smaller atrophic lesions develop progressively around this central lesion; in Stage 2, slow progression of the chorioretinal atrophy with structurally intact retina remaining at the peripapillary region and at the extreme periphery; second smaller focus of chorioretinal atrophy presents later in the second decade of life and overtime there is further progression of the atrophic lesions during Stage 3 of disease 1 1 LOVD
00415421 III:3 PubMed: Silva 2019 family GC21086, patient III:3 F - - - - - - - retinal disease whole family description: main lesion of the fundus located in the macular region, limited to within the retinal vascular arcades of the posterior pole (Stage 1); further smaller atrophic lesions develop progressively around this central lesion; in Stage 2, slow progression of the chorioretinal atrophy with structurally intact retina remaining at the peripapillary region and at the extreme periphery; second smaller focus of chorioretinal atrophy presents later in the second decade of life and overtime there is further progression of the atrophic lesions during Stage 3 of disease 1 1 LOVD
00415422 IV:1 PubMed: Silva 2019 family GC21086, patient IV:1 M - - - - - - - retinal disease whole family description: main lesion of the fundus located in the macular region, limited to within the retinal vascular arcades of the posterior pole (Stage 1); further smaller atrophic lesions develop progressively around this central lesion; in Stage 2, slow progression of the chorioretinal atrophy with structurally intact retina remaining at the peripapillary region and at the extreme periphery; second smaller focus of chorioretinal atrophy presents later in the second decade of life and overtime there is further progression of the atrophic lesions during Stage 3 of disease 1 1 LOVD
00415423 IV:2 PubMed: Silva 2019 family GC21086, patient IV:2 M - - - - - - - retinal disease whole family description: main lesion of the fundus located in the macular region, limited to within the retinal vascular arcades of the posterior pole (Stage 1); further smaller atrophic lesions develop progressively around this central lesion; in Stage 2, slow progression of the chorioretinal atrophy with structurally intact retina remaining at the peripapillary region and at the extreme periphery; second smaller focus of chorioretinal atrophy presents later in the second decade of life and overtime there is further progression of the atrophic lesions during Stage 3 of disease 1 1 LOVD
00415424 II:2 PubMed: Silva 2019 family GC20008, patient II:2 F - - East Asian/Caucasian - - - - retinal disease typical features of NCMD 1 1 LOVD
00415425 III:1 PubMed: Silva 2019 family GC20008, patient III:1 M - - - - - - - retinal disease had more severe macular atrophy with associated nystagmus, altogether findings more typical of PBCRA;3y: developed a retinal detachment requiring surgical repair; no observed progression of the macular lesion 1 1 LOVD
00415512 1 PubMed: Small 2019 family 731, patient 1 (IV:2, proband) M - United States Californian - - - - retinal disease grade 3 coloboma-like lesion of both maculae resulting in best corrected visual acuity right, left eye: counting fingers, 20/20; fundus photographs show a bilateral grade 3 coloboma-like lesion more severe right > left eye; misdiagnosed in childhood as having congenital toxoplasmosis; right macula - submacular fibrosis extending under the nasal macula and superior to the optic nerve, suggesting a previous episode of an actively leaking choroidal neovascularization (CNVM); spectral domain optical coherence tomography, right eye: macular colobomalike lesion with a discrete, well-demarcated absence of the photoreceptors and retinal pigment epithelium, choroid encircled by subretinal fibrosis - because of the nasal macular location of the fibrosis and the loss of the inner segment and outer segment photoreceptor junction within the lesion, significant vision loss in the right eye is not mirrored in the left eye; if the CNVM in the nasal macula right eye occurred early in life, the poor vision in the right eye may be in part due to induced amblyopia from the better left eye having a competitive advantage over the right eye as well. Left eye: a grade 3 classic North Carolina macular dystrophy lesion, with its appearance being more dramatic than the severity of vision loss; center of the macula appears to be rotated inferiorly; spectral domain optical coherence tomography: intrachoroidal fluid containing spaces which are not vascular, as evidenced on optical coherence tomography angiogram and intravenous fluorescein angiograms; nasal edge of the lesion - preserved inner segment and outer segment junction where slightly eccentric fixation is located, as evidenced on microperimetry results, there, preserved choroid and all layers of the retina; within the lesion, total disruption and loss of organized structure to the retina and choroid; microperimetry and multifocal electroretinography: little, if any, function of the retina within the lesion results; optical coherence tomography angiogram: retinal vasculature relatively intact despite the disruption of the other retinal layers; foveal avascular zone enlarged and irregular, retinal vasculature atypical, not seen on standard fluorescein angiograms - prominent choroidal vasculature with absence of the choriocapilaris within the lesion on OCTAs and intravenous fluorescein angiograms, along with an absence of retinal pigment epithelium; spectral domain optical coherence tomography: absence of the typical layers of the neurosensory retina within the lesion, suggesting complete disorganization of the maculae, choroid absent completely posterior to the disorganized macula; microperimetry and multifocal electroretinography: eccentric fixation worse in the right eye (poor, consistent with no central macular function and with loss of the retinal pigment epithelium in the nasal macula) than in the left fixation in right eye is. This level of severity in NCMD in the right eye is unusual and is consistent with a history of previous leakage from a CNVM in the nasal macula, which is typically the region of good vision and fixation in persons with NCMD; left eye shows fixation at the nasal edge of the lesion, which is a typical finding in NCMD cases and is consistent with the intact retinal inner segment and outer segment junction and good vision; full-field electroretinogram: right eye depressed in all functions, consistent with the large area of retinal scarring, atrophy, or fibrosis, or a combination of these, from a probable CNVM leak in the past; full-field ERG left eye: normal 1 1 LOVD
00415513 104 PubMed: Small 2019 family 731, patient 104 (V:2, proband's son) M - United States Californian - - - - retinal disease grade 2 North Carolina macular dystrophy retinal changes; best-corrected visual acuity: 20/40 in each eye; fundus: confluent bilaterally symmetrical macular yellow drusen-like lesions; spectral domain optical coherence tomography: intact inner segment and outer segment photoreceptor junction with mild irregularities more concentrated temporal to the fovea in each eye; poor cooperation and longer acquisition times - no results from other examinations; phenotype is consistent with torpedo maculopathy 1 1 LOVD
00415514 8000 PubMed: Small 2019 family 731, patient 8000 (III:3, proband's father) M - United States Californian - - - - retinal disease grade 1 NCMD retinal changes with best-corrected visual acuity: 20/25 both eyes; asymptomatic, previously told he had macular abnormalities; fundus: classic yellow intermediate-size drusen characteristic of grade 1 lesions. spectral domain optical coherence tomography:fine depositions at the level of the retinal pigment epithelium with overlying intact inner segment and outer segment photoreceptor junctions; inner retina and specifically the amacrine cells in the inner nuclear layer: normal; optical coherence tomography angiograms: no choroidal neovascularization , choroid normal, retinal vasculature shows an absence of the foveal avascular zone along with an absence of the umbo that is cDonsistent with fovea plana; autofluorescence: normal appearing; minimally reduced foveal sensitivity on microperimetry results, slight eccentric fixation in the left eye; multifocal electroretinography: mildly to moderately reduced amplitudes throughout the maculae; full-field electroretinography: normal, including the oscillatory potentials 1 1 LOVD
00423305 A.I:2 PubMed: Birtel 2021 Family A, individual I:2 F - - - - - - - retinal disease age at 1st examination (years): 44; retinal phenotype (1st examination): drusen, inactive macular neovascularization/fibrosis; best corrected visual acuity right, left eye: 20/320, 20/32; refraction spherical equivalent right, left eye: +3.00/.25/170deg, -0.50/-0.50/25deg; best corrected visual acuity right, left eye last visit: 20/400, 20/32; additional ophthalmic findings: left eye - anti-VEGF treatment (10x) 1 1 LOVD
00423306 A.I:3 PubMed: Birtel 2021 Family A, individual I:3 F - - - - - - - retinal disease age at 1st examination (years): 41; retinal phenotype (1st examination): drusen, inactive macular neovascularization/fibrosis; best corrected visual acuity right, left eye: 20/50, 20/25; refraction spherical equivalent right, left eye: +1.00/0.00/<1deg, +0.25/-0.25/158deg; best corrected visual acuity right, left eye last visit: 20/200, 20/32 1 1 LOVD
00423307 A.II:1 PubMed: Birtel 2021 Family A, individual II:1 F - - - - - - - retinal disease age at 1st examination (years): 20; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/16, 20/16; best corrected visual acuity right, left eye last visit: 20116, 20/16 1 1 LOVD
00423308 A.II:3 PubMed: Birtel 2021 Family A, individual II:3 F - - - - - - - retinal disease age at 1st examination (years): 11; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/20, 20/16; refraction spherical equivalent right, left eye: +0.50/0.00/<1deg, +0.25/--0.25/158deg; best corrected visual acuity right, left eye last visit: 20/20, 20/20 1 1 LOVD
00423309 A.II:4 PubMed: Birtel 2021 Family A, individual II:4 F - - - - - - - retinal disease age at 1st examination (years): 13; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/20, 20/20; refraction spherical equivalent right, left eye: +0.50/-0.25/121deg, 0.00/-0.25/20deg; best corrected visual acuity right, left eye last visit: 20/20, 20/20 1 1 LOVD
00423310 B.I:1 PubMed: Birtel 2021 Family B, individual I:1 F - - - - - - - retinal disease age at 1st examination (years): 81; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/25, 20/25; additional ophthalmic findings: both eyes pseudophakia 1 1 LOVD
00423311 B.II:1 PubMed: Birtel 2021 Family B, individual II:1 M - - - - - - - retinal disease age at 1st examination (years): 58; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/20, 20/20; refraction spherical equivalent right, left eye: +2.25/-0.50/60deg, +2.5/--0.75/20deg 1 1 LOVD
00423312 B.II:2 PubMed: Birtel 2021 Family B, individual II:2 F - - - - - - - retinal disease age at 1st examination (years): 52; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/20, 20.r.m; refraction spherical equivalent right, left eye: +0.25/-0.751174., +0.25/-1.25/174deg 1 1 LOVD
00423313 B.III:1 PubMed: Birtel 2021 Family B, individual III:1 M - - - - - - - retinal disease age at 1st examination (years): 26; retinal phenotype (1st examination): drusen, atrophy; best corrected visual acuity right, left eye: 20/25, 20/25; refraction spherical equivalent right, left eye: -4.751-1.25/175deg, -5.50/-1.50/177deg; best corrected visual acuity right, left eye last visit: 20/32, 20/25 1 1 LOVD
00423314 B.III:2 PubMed: Birtel 2021 Family B, individual III:2 M - - - - - - - retinal disease age at 1st examination (years): 20; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/20, 20/20; refraction spherical equivalent right, left eye: 0.00/-0.25/19deg, 0.00/-0.50/152deg; best corrected visual acuity right, left eye last visit: 20/20, 20/20 1 1 LOVD
00423315 C.I:1 PubMed: Birtel 2021 Family C, individual I:1 F - - - - - - - retinal disease age at 1st examination (years): 53; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/20, 20/20; refraction spherical equivalent right, left eye: +1.25/-0.25/165deg, +0.25/-0.50/24deg; best corrected visual acuity right, left eye last visit: 20/20, 20/32; additional ophthalmic findings: left eye - macular neovascularization at last visit - anti-VEGF treatment 1 1 LOVD
00423316 C.II:1 PubMed: Birtel 2021 Family C, individual II:1 F - - - - - - - retinal disease age at 1st examination (years): 16; retinal phenotype (1st examination): drusen, atrophy; best corrected visual acuity right, left eye: 20/50, 20/50; refraction spherical equivalent right, left eye: 0.00/-0.25/50deg, 0.00/-0.50/10deg; best corrected visual acuity right, left eye last visit: 20/50, 20/80 1 1 LOVD
00423317 C.II:2 PubMed: Birtel 2021 Family C, individual II:2 M - - - - - - - retinal disease age at 1st examination (years): 18; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/16, 20/16; refraction spherical equivalent right, left eye: +1.50/-0.25/151deg, +1.25/-0.50/60deg; best corrected visual acuity right, left eye last visit: 20/20, 20/20 1 1 LOVD
00423318 D.I:1 PubMed: Birtel 2021 Family D, individual I:1 M - - - - - - - retinal disease age at 1st examination (years): 78; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 1 1 LOVD
00423319 D.II:1 PubMed: Birtel 2021 Family D, individual II:1 F - - - - - - - retinal disease age at 1st examination (years): 41; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/25, 20/25 1 1 LOVD
00423320 D.III:1 PubMed: Birtel 2021 Family D, individual III:1 F - - - - - - - retinal disease age at 1st examination (years): 16; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/32, 20/20 1 1 LOVD
00423321 E.I:1 PubMed: Birtel 2021 Family E, individual I:1; also sister and her daughter affected but not tested F - - - - - - - retinal disease age at 1st examination (years): 49; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/20, 20/20; refraction spherical equivalent right, left eye: -2.00/-0.75/95deg, -2.75/-0.75185deg 1 1 LOVD
00423322 F.I:1 PubMed: Birtel 2021 Family F, individual I:1 - - - - - - - - retinal disease age at 1st examination (years): 31; retinal phenotype (1st examination): drusen; best corrected visual acuity right, left eye: 20/16, 20/20; refraction spherical equivalent right, left eye: +0.25/-0.50/4deg, 0.00/-0.25/180deg; best corrected visual acuity right, left eye last visit: 20/20, 20/20 1 1 LOVD
00423323 123660 PubMed: Green 2021 Family 123660, individual II:2 F - - - - - - - retinal disease age (at presentation; at last examination): 35; 37; logMAR vision at last examination (right; left eye): 0.0; 0.0; main fundoscopic findings: macular and peripheral drusenoid lesions 1 1 LOVD
00423324 89794 PubMed: Green 2021 Family 89794, individual II:2, brother of II:3 M - - - - - - - retinal disease age (at presentation; at last examination): 44; 50; logMAR vision at last examination (right; left eye): 0.0; 0.0; main fundoscopic findings: macular and peripheral drusenoid lesions 1 1 LOVD
00423325 89794 PubMed: Green 2021 Family 89794, individual II:3, brother of II:2 M - - - - - - - retinal disease age (at presentation; at last examination): 46; 52; logMAR vision at last examination (right; left eye): 0.0; 0.0; main fundoscopic findings: macular and peripheral drusenoid lesions 1 1 LOVD
00423326 75898 PubMed: Green 2021 Family 75898, individual III:2; mother and maternal grandmother previously described in Manes et al.., 2017 M - - - - - - - retinal disease age (at presentation; at last examination): 3; 7; logMAR vision at last examination (right; left eye): 0.5; 1.6; main fundoscopic findings: coloboma-like macular lesions; subfoveal scarring and fluid owing to neovascularization; subtle peripheral drusenoid lesions 1 1 LOVD
00426189 10DK3900 PubMed: Al-Kasbi 2022 patient, no other affecteds in family M yes Oman - - - - - ID Central hypoventilation and apnea, seizures, cerebellar vermis hypoplasia and early death 1 1 Johan den Dunnen
00433782 - - - F no Korea, South (Republic) Asian - - - - MCDR1 Drusen(HP:0011510), Macular dystrophy(HP:0007754) 1 1 Jinu Han
00433866 - - - M no Korea, South (Republic) Asian - - - - MCDR1 Drusen (HP:0011510); Macular dystrophy (HP:0007754) 1 1 Jinu Han
00434135 GC15416 PubMed: Cipriani 2017 2-generation family, affected father/daughter F;M - United Kingdom (Great Britain) - - - - - MCDR1 see paper 1 2 Johan den Dunnen
00434136 GC3722 PubMed: Cipriani 2017 5-generation family, 12 affected F;M - United Kingdom (Great Britain) - - - - - MCDR1 see paper 1 12 Johan den Dunnen
00434147 family PubMed: Ellingford 2017 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - MCDR1 see paper 1 2 Johan den Dunnen
00447659 BVMD-115 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00450909 071783 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - macular dystrophy - 1 1 Rebekkah Hitti-Malin
00450910 071999 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - macular dystrophy - 1 1 Rebekkah Hitti-Malin
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