Phenotypes for disease #00381 (RD (dystrophy, retinal (RD)))

210 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000015236 emmetropia, undetectable PERGs, borderline DA ERGs, subnormal LA ERGs - - Isolated (sporadic) 39y - - - - Johan den Dunnen 00016583
0000015237 more severe phenotype with poor vision from the first years of life, severe generalized cone-system dysfunction, and additional significant involvement of rod photoreceptors. - - Isolated (sporadic) >46y - - - - Marianne Vos (LOVD-team) 00016584
0000015238 central and peripheral cone dysfunction with preservation of rod photoreceptor function - - Isolated (sporadic) 53y - - - - Marianne Vos (LOVD-team) 00016585
0000026783 - - - Familial, autosomal recessive - - - - - Leen Abu Safieh 00033354
0000028647 early-onset retinal dystrophy, horizontal sensory nystagmus, slightly pale optic nerves, macular atrophy, and nummular pigment clumping in both eyes, diffuse drusen like deposits in the posterior pole, abnormal inner retinal lamination and loss of photoreceptors, extinguished ERG - - Familial, autosomal recessive - - - low visual acuity - Frans Cremers 00038104
0000028648 early-onset retinal dystrophy, horizontal sensory nystagmus, optic nerve pallor, macular atrophy, and peripheral intraretinal pigment migration less severe than her brother - - Familial, autosomal recessive - - - low visual acuity - Frans Cremers 00038105
0000028680 early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG - - Familial, autosomal recessive - - 1y ? - Frans Cremers 00038137
0000028681 early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG - - Familial, autosomal recessive - - 1y ? - Frans Cremers 00038138
0000028682 early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG - - Familial, autosomal recessive - - 1y ? - Frans Cremers 00038139
0000028683 early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG - - Familial, autosomal recessive - - 1y ? - Frans Cremers 00038140
0000028684 early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG - - Familial, autosomal recessive - - 1y ? - Frans Cremers 00038141
0000028685 early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG - - Familial, autosomal recessive - - 1y ? - Frans Cremers 00038142
0000028747 Atrophy of the retina outside of the fovea, spots of hyperpigmentation, optic disc drusen, intraretinal macular edema - - Familial, autosomal recessive - - - ? - Frans Cremers 00038204
0000028752 ? - - Familial, autosomal recessive - - - ? - Frans Cremers 00038209
0000028753 ? - - Familial, autosomal recessive - - - ? - Frans Cremers 00038210
0000028754 ? - - Familial, autosomal recessive - - - ? - Frans Cremers 00038211
0000028757 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038214
0000028758 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038215
0000028759 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038216
0000028760 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038217
0000028761 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038218
0000028762 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038219
0000028763 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038220
0000028764 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038221
0000028765 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038222
0000028766 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038223
0000028767 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038224
0000028771 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038228
0000028772 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038229
0000028773 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038230
0000028774 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038231
0000028775 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038232
0000028776 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038233
0000028778 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038235
0000028779 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038236
0000028780 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038237
0000028783 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038240
0000028788 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038245
0000028789 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038246
0000028790 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038247
0000028792 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038249
0000028794 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038251
0000028796 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038253
0000028797 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038254
0000028798 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038255
0000028799 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038256
0000028800 early-onset retinal dystrophy - - Unknown - - - ? - Frans Cremers 00038257
0000028841 Generalized retinal dystrophy, macular nummular pigmentation, yellowish crystalline-like spots in midperipheral retina, bone-spicule pigmentation at mid-peripheral retina, non-detectable ERG - - Familial, autosomal recessive - - 1y nystagmus - Frans Cremers 00038298
0000028842 Generalized retinal dystrophy, bone-spicule pigmentation at mid-peripheral retina - - Familial, autosomal recessive - - - onset early childhood, poor vision, nystagmus - Frans Cremers 00038299
0000028843 Generalized retinal dystrophy, non-detectable ERG - - Familial, autosomal recessive - - - onset early childhood, nystagmus, high hyperopia - Frans Cremers 00038300
0000028844 Generalized retinal dystrophy, bone-spicule pigmentation at mid-peripheral retina, non-detectable rod ERG and reduced cone ERG - - Familial, autosomal recessive - - 3y poor vision - Frans Cremers 00038301
0000028845 Generalized retinal dystrophy, macular nummular pigmentation, yellowish crystalline-like spots in midperipheral retina, bone-spicule pigmentation at mid-peripheral retina, non-detectable ERG - - Familial, autosomal recessive - - 2y poor vision, nystagmus - Frans Cremers 00038302
0000028846 Generalized retinal dystrophy, non-detectable ERG - - Familial, autosomal recessive - - 8y poor vision - Frans Cremers 00038303
0000028847 Generalized retinal dystrophy, macular nummular pigmentation, bone-spicule pigmentation at mid-peripheral retina, non-detectable rod ERG and reduced cone ERG - - Familial, autosomal recessive - - 6y poor vision - Frans Cremers 00038304
0000028850 Attenuation of retinal arterioles, numerous pigment deposits, and RPE degeneration mainly in the temporal quadrant and the posterior pole - - Familial, autosomal recessive - - 25y ? - Frans Cremers 00038307
0000028851 Attenuation of retinal arterioles, numerous pigment deposits, and RPE degeneration mainly in the temporal quadrant and the posterior pole - - Familial, autosomal recessive - - - ? - Frans Cremers 00038308
0000028852 Attenuation of retinal arterioles, numerous pigment deposits, and RPE degeneration mainly in the temporal quadrant and the posterior pole - - Familial, autosomal recessive - - - ? - Frans Cremers 00038309
0000028853 ? - - Familial, autosomal recessive - - <1y ? - Frans Cremers 00038310
0000028854 ? - - Familial, autosomal recessive - - 1y ? - Frans Cremers 00038311
0000028855 ? - - Familial, autosomal recessive - - - onset childhood - Frans Cremers 00038312
0000028862 early-onset retinal dystrophy, night blindness since infancy, de-pigmentation of the retinal pigment epithelium in the mid-periphery, ERGs were reduced, scotomas in the mid-periphery, numerous clumped pigments in the mid-periphery of the retina, bone-spicule pigmentation - - Familial, autosomal recessive - - 0d ? - Frans Cremers 00038319
0000038990 retinal dystrophy, early-onset, severe; mildly attenuated retinal vessels, some whitish dots, and numerous grayish deposits in the mid-peripheral retina - - Familial, autosomal recessive - - 3y - - Muhammad Ajmal 00052413
0000039018 retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor - - Familial, autosomal recessive - - 0d - - Muhammad Ajmal 00052441
0000039019 retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor - - Familial, autosomal recessive - - 0d - - Muhammad Ajmal 00052442
0000039020 retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor - - Familial, autosomal recessive - - 0d - - Muhammad Ajmal 00052443
0000039021 retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor - - Familial, autosomal recessive - - 0d - - Muhammad Ajmal 00052444
0000039026 retinal dystrophy - - Familial, autosomal recessive - - 0d - - Muhammad Ajmal 00052449
0000039027 retinal dystrophy - - Familial, autosomal recessive - - 0d - - Muhammad Ajmal 00052450
0000039028 retinal dystrophy - - Familial, autosomal recessive - - 0d - - Muhammad Ajmal 00052451
0000039065 retinal dystrophy; clear lenses, hypermetropic, syneresis of vitreous, microrotatory infantile nystagmus, vertically oval discs, mild optic atrophy, vascular attenuation, peripheral pigmentation and no bone spicules, nonrecordable ERG - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052488
0000039066 retinal dystrophy; mild enophthalmos, clear lenses, clear vitreous, vertically oval discs, slightly hyperopic optic nerve fullness, decreased retinal light reflexes, minimal peripheral pigment changes, infantile nystagmus, nonrecordable ERG - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052489
0000039067 retinal dystrophy; enophthalmos, nystagmus, clear lenses, minimal peripheral pigmentary changes, decreased foveal light reflexes, hyperopic full discs and mild hyperemia, minimal astigmatism, nonrecordable ERG - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052490
0000039068 retinal dystrophy; micronystagmus, pigmentary granular dystrophy, foveal atrophy, disc atrophy, widespread vascular attenuation and grainy midperiphery - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052491
0000039069 retinal dystrophy; micronystagmus, spared macula, disc atrophy, vascular attenuation, sandy RPE degeneration from inside the arcade to the periphery - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052492
0000039070 retinal dystrophy; no nystagmus, vascular attenuation, disc pallor, midperiphery sandy depigmentation, night blindness - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052493
0000039071 retinal dystrophy; disc pallor, vessels attenuated, nonrecordable ERG - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052494
0000039072 retinal dystrophy; non-recordable ERG, disc pallor, neuroepithelial atrophy, nystagmus - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052495
0000039092 retinal dystrophy, early-onset, severe; no light perception, optic disc atrophy, widespread RPE defects/atrophy, no nystagmus, photophobia - - Familial, autosomal recessive - - 1y - - Muhammad Ajmal 00052515
0000039093 retinal dystrophy, early-onset, severe; hand motion, emmetropia, large central irregular RPE defect, nystagmus, photophobia, midperiphery RPE thinning and mottling with silvery reflex - - Familial, autosomal recessive - - 1y - - Muhammad Ajmal 00052516
0000039094 retinal dystrophy, early-onset, severe; large central irregular RPE defect, nystagmus, photophobia, midperiphery RPE thinning and mottling with silvery reflex - - Familial, autosomal recessive - - 1y - - Muhammad Ajmal 00052517
0000039095 retinal dystrophy, early-onset, severe; light perception to hand motion, myopic astigmatism, central patch of dark RPE, periphery spotty RPE clumping and thinning, nystagmus, photophobia - - Familial, autosomal recessive - - 1y - - Muhammad Ajmal 00052518
0000039096 retinal dystrophy, early-onset, severe; light perception to hand motion, myopic astigmatism, periphery spotty RPE clumping, widespread RPE thinning, nystagmus, photophobia - - Familial, autosomal recessive - - 1y - - Muhammad Ajmal 00052519
0000039097 retinal dystrophy, early-onset, severe; myopia, no central reflexes, spotty RPE clumping, circular patches of RPE atrophy, nystagmus, photophobia - - Familial, autosomal recessive - - 1y - - Muhammad Ajmal 00052520
0000039098 retinal dystrophy; no light perception, nystagmus, strabismus, cortical and posterior subcapsular cataract, chorioretinal atrophy, attenuated retinal vessels, pale optic disc, myopia and stigmatism, nondetectable ERG - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052521
0000039099 retinal dystrophy; light perception, nystagmus, exotropia, cortical and posterior subcapsular cataract, attenuated retinal vessels, pale optic disc, myopia and astigmatism, nondetectable ERG - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052522
0000039100 retinal dystrophy; light perception - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052523
0000039104 retinal dystrophy; severe visual loss and nystagmus - - Isolated (sporadic) - - 5y - - Muhammad Ajmal 00052527
0000039132 retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time - - Familial, autosomal recessive - - 18y poor vision, nystagmus, sluggish pupils - Muhammad Ajmal 00052555
0000039133 retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time - - Familial, autosomal recessive - - 8y9m limited vision in dim light, poor side vision - Muhammad Ajmal 00052556
0000039134 retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time - - Familial, autosomal recessive - - 3y8m limited vision in dim light, poor side vision - Muhammad Ajmal 00052557
0000039135 retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time - - Familial, autosomal recessive - - 3y no night vision, no nystagmus, good day vision - Muhammad Ajmal 00052558
0000039136 retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time - - Familial, autosomal recessive - - - difficulty in adjusting to dim illumination, no nystagmus, poor night vision - Muhammad Ajmal 00052559
0000039192 retinal dystrophy - - Unknown - - - - - Muhammad Ajmal 00052615
0000039198 retinal dystrophy, early-onset, severe; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time - - Familial, autosomal recessive - - 7y visual problems - Muhammad Ajmal 00052621
0000039282 retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052705
0000039283 retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052706
0000039284 retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052707
0000039285 retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052708
0000039286 retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052709
0000039287 retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052710
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.