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With the recent advances in molecular genetic techniques, new genes that cause eye disease are being identified. In many instances, these findings allow researchers to develop innovative strategies for preventing or slowing the progress of genetic eye diseases.
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abetalipoproteinemia
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acanthocytosis see abetalipoproteinemia
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aceruloplasminemia
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Adrenoleukodystrophy see X-linked adrenoleukodystrophy
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Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
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Adult premature aging syndrome see Werner syndrome
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Adult Progeria see Werner syndrome
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Albinism, Ocular see ocular albinism
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Albinism, Oculocutaneous see oculocutaneous albinism
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ALD (Adrenoleukodystrophy) see X-linked adrenoleukodystrophy
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ALMS see Alström syndrome
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Alport syndrome
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Alström syndrome
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Anderson-Warburg syndrome see Norrie disease
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Apolipoprotein B deficiency see abetalipoproteinemia
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ataxia with oculomotor apraxia
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Atrophia bulborum hereditaria see Norrie disease
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autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome
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Bartholin-Patau syndrome see trisomy 13
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Bassen-Kornzweig Syndrome see abetalipoproteinemia
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Betalipoprotein Deficiency Disease see abetalipoproteinemia
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BIOT see biotinidase deficiency
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biotinidase deficiency
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blepharophimosis, ptosis, and epicanthus inversus syndrome
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Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
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Bloch-Siemens syndrome see incontinentia pigmenti
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Bloch-Sulzberger Syndrome see incontinentia pigmenti
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BPES see blepharophimosis, ptosis, and epicanthus inversus syndrome
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Brittle bone disease see osteogenesis imperfecta
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Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
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BTD deficiency see biotinidase deficiency
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Camurati-Engelmann disease
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Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
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CED see Camurati-Engelmann disease
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cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
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Cerebral gigantism see Sotos syndrome
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Cerebromuscular dystrophy, Fukuyama type see Fukuyama congenital muscular dystrophy
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Cerebrooculorenal Syndrome see Lowe syndrome
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cerebrotendinous xanthomatosis
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CHARGE syndrome
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Chediak-Higashi syndrome
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Chediak-Steinbrinck-Higashi syndrome see Chediak-Higashi syndrome
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choroidal sclerosis see choroideremia
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choroideremia
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CHS see Chediak-Higashi syndrome
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Classic Galactosemia see galactosemia
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Cockayne-Pelizaeus-Merzbacher Disease see Pelizaeus-Merzbacher disease
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Cohen syndrome
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coloboma of optic nerve with renal disease see renal coloboma syndrome
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coloboma-ureteral-renal syndrome see renal coloboma syndrome
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color vision deficiency
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Complete trisomy 13 syndrome see trisomy 13
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Complete trisomy 18 syndrome see trisomy 18
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Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
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congenital hereditary hematuria see Alport syndrome
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Congenital mesodermal dysmorphodystrophy see Weill-Marchesani syndrome
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Congenital poikiloderma see Rothmund-Thomson Syndrome
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congenital progressive oculo-acoustico-cerebral degeneration see Norrie disease
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congenital X-linked retinoschisis see X-linked juvenile retinoschisis
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CTX see cerebrotendinous xanthomatosis
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Cystine storage disease see cystinosis
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Cystinoses see cystinosis
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cystinosis
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Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
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deafness-dystonia-optic neuronopathy syndrome
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Deafness-dystonia syndrome see deafness-dystonia-optic neuronopathy syndrome
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Deafness-retinitis pigmentosa syndrome see Usher syndrome
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22q11.2 deletion syndrome see Opitz G/BBB syndrome
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Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease
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diaphyseal hyperostosis see Camurati-Engelmann disease
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DRRS see Duane-radial ray syndrome
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Duane-radial ray syndrome
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dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome
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dystrophic epidermolysis bullosa
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EAOH see ataxia with oculomotor apraxia
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early-onset ataxia with ocular motor apraxia and hypoalbuminemia see ataxia with oculomotor apraxia
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early-onset glaucoma
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EDS see Ehlers-Danlos syndrome
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Edwards Syndrome see trisomy 18
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Ehlers-Danlos syndrome
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Engelmann's Disease see Camurati-Engelmann disease
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Epidermolysis Bullosa, Dystrophic see dystrophic epidermolysis bullosa
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Epimerase deficiency galactosemia see galactosemia
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Episkopi blindness see Norrie disease
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familial apoceruloplasmin deficiency see aceruloplasminemia
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Familial hypobetalipoproteinemia see abetalipoproteinemia
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FCMD see Fukuyama congenital muscular dystrophy
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Fetal iritis syndrome see Norrie disease
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Fragilitas ossium see osteogenesis imperfecta
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Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
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Fukuyama congenital muscular dystrophy
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Galactokinase Deficiency Disease see galactosemia
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Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosemia
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Galactose epimerase deficiency see galactosemia
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galactosemia
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GALT Deficiency see galactosemia
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Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
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Glioblastoma, retinal see retinoblastoma
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Glioma, retinal see retinoblastoma
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Graefe-Usher syndrome see Usher syndrome
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Greig cephalopolysyndactyly syndrome
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Gronblad-Strandberg Syndrome see pseudoxanthoma elasticum
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Hall-Hittner syndrome see CHARGE syndrome
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Hallgren syndrome see Usher syndrome
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hematuria-nephropathy-deafness syndrome see Alport syndrome
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hematuric hereditary nephritis see Alport syndrome
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hemorrhagic familial nephritis see Alport syndrome
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hemorrhagic hereditary nephritis see Alport syndrome
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hereditary arthro-ophthalmo-dystrophy see Stickler syndrome
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Hereditary arthro-ophthalmopathy see Stickler syndrome
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hereditary ceruloplasmin deficiency see aceruloplasminemia
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hereditary familial congenital hemorrhagic nephritis see Alport syndrome
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hereditary glaucoma see early-onset glaucoma
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hereditary hematuria syndrome see Alport syndrome
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hereditary interstitial pyelonephritis see Alport syndrome
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Hereditary nephritis see Alport syndrome
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hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sjögren syndrome
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Hereditary optic neuroretinopathy see Leber hereditary optic neuropathy
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Hirschsprung Disease-Mental Retardation Syndrome see Mowat-Wilson syndrome
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hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome
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hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome
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hypoceruloplasminemia see aceruloplasminemia
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Hypotonia, obesity, and prominent incisors see Cohen syndrome
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incontinentia pigmenti
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IP see incontinentia pigmenti
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Kniest dysplasia
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Krause-Kivlin syndrome see Peters plus syndrome
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Krause-van Schooneveld-Kivlin syndrome see Peters plus syndrome
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Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
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Late-onset multiple carboxylase deficiency see biotinidase deficiency
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Leber hereditary optic neuropathy
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Lenz microphthalmia syndrome
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LHON see Leber hereditary optic neuropathy
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Lowe syndrome
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lymphedema-distichiasis syndrome
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lymphedema with distichiasis see lymphedema-distichiasis syndrome
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3MGA see 3-methylglutaconic aciduria
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MAA see Lenz microphthalmia syndrome
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Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome
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Marchesani syndrome see Weill-Marchesani syndrome
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Marfan syndrome
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Marinesco-Garland syndrome see Marinesco-Sjögren syndrome
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Marinesco-Sjögren syndrome
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MCOPS1 see Lenz microphthalmia syndrome
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MCOPS2 see oculofaciocardiodental syndrome
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Metatropic dwarfism, type II see Kniest dysplasia
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Metatropic dysplasia type II see Kniest dysplasia
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3-methylglutaconic aciduria
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MFS see Marfan syndrome
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Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease see Mowat-Wilson syndrome
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Microphthalmia, cataracts, radiculomegaly, and septal heart defects see oculofaciocardiodental syndrome
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microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
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Microphthalmia, syndromic 2 see oculofaciocardiodental syndrome
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Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
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Mohr-Tranebjærg syndrome see deafness-dystonia-optic neuronopathy syndrome
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Mowat-Wilson syndrome
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MSS see Marinesco-Sjögren syndrome
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Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
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Muscular dystrophy, congenital, Fukuyama type see Fukuyama congenital muscular dystrophy
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Muscular dystrophy, congenital progressive, with mental retardation see Fukuyama congenital muscular dystrophy
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Muscular dystrophy, congenital, with central nervous system involvement see Fukuyama congenital muscular dystrophy
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Muscular Dystrophy, Oculopharyngeal see oculopharyngeal muscular dystrophy
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MWS see Mowat-Wilson syndrome
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NARP see neuropathy, ataxia, and retinitis pigmentosa
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NBIA1 see pantothenate kinase-associated neurodegeneration
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Neuroaxonal dystrophy, juvenile-onset see pantothenate kinase-associated neurodegeneration
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Neuroblastoma, retinal see retinoblastoma
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Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration
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neurogenic muscle weakness, ataxia, and retinitis pigmentosa see neuropathy, ataxia, and retinitis pigmentosa
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neuropathy, ataxia, and retinitis pigmentosa
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Norio syndrome see Cohen syndrome
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Norrie disease
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OA see ocular albinism
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obesity-hypotonia syndrome see Cohen syndrome
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OCA see oculocutaneous albinism
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ocular albinism
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Oculo-facio-cardio-dental syndrome see oculofaciocardiodental syndrome
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Oculocerebrorenal Syndrome see Lowe syndrome
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oculocutaneous albinism
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Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome
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oculofaciocardiodental syndrome
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oculopharyngeal muscular dystrophy
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OFCD syndrome see oculofaciocardiodental syndrome
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OI see osteogenesis imperfecta
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Okihiro syndrome see Duane-radial ray syndrome
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Oligophrenia microphthalmus see Norrie disease
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ONCR see renal coloboma syndrome
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Opitz G/BBB syndrome
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OPMD see oculopharyngeal muscular dystrophy
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optic coloboma, vesicoureteral reflux, and renal anomalies see renal coloboma syndrome
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optic nerve coloboma renal syndrome see renal coloboma syndrome
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osteogenesis imperfecta
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pantothenate kinase-associated neurodegeneration
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papillorenal syndrome see renal coloboma syndrome
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Patau syndrome see trisomy 13
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PDD see Camurati-Engelmann disease
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Pelizaeus-Merzbacher disease
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Pepper syndrome see Cohen syndrome
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Peters plus syndrome
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Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome
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PKAN see pantothenate kinase-associated neurodegeneration
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PMD see Pelizaeus-Merzbacher disease
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Poikiloderma atrophicans and cataract see Rothmund-Thomson Syndrome
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Poikiloderma Congenitale see Rothmund-Thomson Syndrome
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Polymicrogyria with muscular dystrophy see Fukuyama congenital muscular dystrophy
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Progressive muscular dystrophy, oculopharyngeal type see oculopharyngeal muscular dystrophy
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progressive tapetochoroidal dystrophy see choroideremia
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prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
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pseudoglioma congenita see Norrie disease
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pseudoxanthoma elasticum
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PXE see pseudoxanthoma elasticum
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RB see retinoblastoma
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RCS see renal coloboma syndrome
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renal coloboma syndrome
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Retinitis pigmentosa-deafness syndrome see Usher syndrome
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retinoblastoma
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Retinoschisis see X-linked juvenile retinoschisis
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Rothmund-Thomson Syndrome
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RSTS see Rubinstein-Taybi syndrome
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Rubinstein-Taybi syndrome
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SCAN2 see ataxia with oculomotor apraxia
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SCAR1 see ataxia with oculomotor apraxia
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Schilder-Addison Complex see X-linked adrenoleukodystrophy
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sclerosis; brain, Pelizaeus-Merzbacher see Pelizaeus-Merzbacher disease
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SED congenita see spondyloepiphyseal dysplasia congenita
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SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
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SEDc see spondyloepiphyseal dysplasia congenita
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SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
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SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
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SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type
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Sotos syndrome
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SPD see spondyloperipheral dysplasia
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Spherophakia-brachymorphia syndrome see Weill-Marchesani syndrome
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spinocerebellar ataxia, recessive, non-Friedreich type 1 see ataxia with oculomotor apraxia
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spinocerebellar ataxia with axonal neuropathy type 2 see ataxia with oculomotor apraxia
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spondyloepimetaphyseal dysplasia, Strudwick type
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spondyloepiphyseal dysplasia congenita
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Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
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Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type
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spondyloperipheral dysplasia
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Stickler syndrome
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Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
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Swiss cheese cartilage dysplasia see Kniest dysplasia
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systemic hemosiderosis due to aceruloplasminemia see aceruloplasminemia
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TCD see choroideremia
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tetra-amelia syndrome
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Treacher Collins syndrome
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trisomy 13
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trisomy 18
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UDP-Galactose-4-Epimerase Deficiency Disease see galactosemia
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UDPglucose 4-Epimerase Deficiency Disease see galactosemia
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UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
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Usher syndrome
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UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
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Van Bogaert-Scherer-Epstein Disease see cerebrotendinous xanthomatosis
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vitelliform macular dystrophy
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Vrolik disease see osteogenesis imperfecta
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Waardenburg syndrome
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Weill-Marchesani syndrome
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Werner syndrome
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Whitnall-Norman syndrome see Norrie disease
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WMS see Weill-Marchesani syndrome
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WS see Werner syndrome
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X-ALD see X-linked adrenoleukodystrophy
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X-linked adrenoleukodystrophy
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X-linked juvenile retinoschisis
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X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome
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Xanthomatosis, Cerebrotendinous see cerebrotendinous xanthomatosis
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XLOA see ocular albinism
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zygoauromandibular dysplasia see Treacher Collins syndrome
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Published: January 23, 2009