Eyes and vision

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.

• abetalipoproteinemia
• acanthocytosis see abetalipoproteinemia
• aceruloplasminemia
• ADOA see optic atrophy type 1
• Adrenoleukodystrophy see X-linked adrenoleukodystrophy
• Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
• Adult premature aging syndrome see Werner syndrome
• Adult Progeria see Werner syndrome
• AEG syndrome see SOX2 anophthalmia syndrome
• Albinism, Ocular see ocular albinism
• Albinism, Oculocutaneous see oculocutaneous albinism
• ALD (Adrenoleukodystrophy) see X-linked adrenoleukodystrophy
• ALMS see Alström syndrome
• Alport syndrome
• Alström syndrome
• Anderson-Warburg syndrome see Norrie disease
• aniridia
• Anophthalmia-esophageal-genital syndrome see SOX2 anophthalmia syndrome
• Apolipoprotein B deficiency see abetalipoproteinemia
• ataxia with oculomotor apraxia
• Atrophia bulborum hereditaria see Norrie disease
• autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome
• autosomal dominant optic atrophy see optic atrophy type 1
• Bartholin-Patau syndrome see trisomy 13
• Bassen-Kornzweig Syndrome see abetalipoproteinemia
• 17β-hydroxysteroid dehydrogenase type 10 deficiency
• Betalipoprotein Deficiency Disease see abetalipoproteinemia
• BIOT see biotinidase deficiency
• biotinidase deficiency
• blepharophimosis, ptosis, and epicanthus inversus syndrome
• Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
• Bloch-Siemens syndrome see incontinentia pigmenti
• Bloch-Sulzberger Syndrome see incontinentia pigmenti
• BPES see blepharophimosis, ptosis, and epicanthus inversus syndrome
• Brittle bone disease see osteogenesis imperfecta
• Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
• BTD deficiency see biotinidase deficiency
• Camurati-Engelmann disease
• Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
• CED see Camurati-Engelmann disease
• cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
• Cerebral gigantism see Sotos syndrome
• Cerebromuscular dystrophy, Fukuyama type see Fukuyama congenital muscular dystrophy
• Cerebrooculorenal Syndrome see Lowe syndrome
• cerebrotendinous xanthomatosis
• CFEOM see congenital fibrosis of the extraocular muscles
• CHARGE syndrome
• Chediak-Higashi syndrome
• Chediak-Steinbrinck-Higashi syndrome see Chediak-Higashi syndrome
• choroidal sclerosis see choroideremia
• choroideremia
• CHS see Chediak-Higashi syndrome
• Classic Galactosemia see galactosemia
• co-contractive retraction syndrome see isolated Duane retraction syndrome
• Cockayne-Pelizaeus-Merzbacher Disease see Pelizaeus-Merzbacher disease
• Cohen syndrome
• coloboma of optic nerve with renal disease see renal coloboma syndrome
• coloboma-ureteral-renal syndrome see renal coloboma syndrome
• color vision deficiency
• Complete trisomy 13 syndrome see trisomy 13
• Complete trisomy 18 syndrome see trisomy 18
• Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
• congenital fibrosis of the extraocular muscles
• congenital hereditary hematuria see Alport syndrome
• Congenital mesodermal dysmorphodystrophy see Weill-Marchesani syndrome
• congenital motor nystagmus see X-linked infantile nystagmus
• Congenital poikiloderma see Rothmund-Thomson Syndrome
• congenital progressive oculo-acoustico-cerebral degeneration see Norrie disease
• congenital stromal corneal dystrophy
• congenital X-linked retinoschisis see X-linked juvenile retinoschisis
• corneal dystrophy, congenital stromal see congenital stromal corneal dystrophy
• CSCD see congenital stromal corneal dystrophy
• CTX see cerebrotendinous xanthomatosis
• Cystine storage disease see cystinosis
• Cystinoses see cystinosis
• cystinosis
• DACS see congenital stromal corneal dystrophy
• Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
• DBS see Donnai-Barrow syndrome
• deafness-dystonia-optic neuronopathy syndrome
• Deafness-dystonia syndrome see deafness-dystonia-optic neuronopathy syndrome
• Deafness-retinitis pigmentosa syndrome see Usher syndrome
• decorin-associated congenital stromal corneal dystrophy see congenital stromal corneal dystrophy
• 3H2MBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 11p deletion syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• 22q11.2 deletion syndrome see Opitz G/BBB syndrome
• diaphragmatic hernia-exomphalos-corpus callosum agenesis see Donnai-Barrow syndrome
• Diaphragmatic hernia-exomphalos-hypertelorism syndrome see Donnai-Barrow syndrome
• Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease
• diaphyseal hyperostosis see Camurati-Engelmann disease
• DOA see optic atrophy type 1
• dominant optic atrophy see optic atrophy type 1
• Donnai-Barrow syndrome
• DRRS see Duane-radial ray syndrome
• Duane anomaly, isolated see isolated Duane retraction syndrome
• Duane-radial ray syndrome
• Duane retraction syndrome see isolated Duane retraction syndrome
• Duane syndrome see isolated Duane retraction syndrome
• dystrophia corneae parenchymatosa congenita see congenital stromal corneal dystrophy
• dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome
• dystrophic epidermolysis bullosa
• EAOH see ataxia with oculomotor apraxia
• early-onset ataxia with ocular motor apraxia and hypoalbuminemia see ataxia with oculomotor apraxia
• early-onset glaucoma
• EDS see Ehlers-Danlos syndrome
• Edwards Syndrome see trisomy 18
• Ehlers-Danlos syndrome
• Engelmann's Disease see Camurati-Engelmann disease
• Epidermolysis Bullosa, Dystrophic see dystrophic epidermolysis bullosa
• Epimerase deficiency galactosemia see galactosemia
• Episkopi blindness see Norrie disease
• faciooculoacousticorenal syndrome see Donnai-Barrow syndrome
• familial apoceruloplasmin deficiency see aceruloplasminemia
• familial exudative vitreoretinopathy
• familial horizontal gaze palsy with progressive scoliosis see horizontal gaze palsy with progressive scoliosis
• Familial hypobetalipoproteinemia see abetalipoproteinemia
• familial idiopathic scoliosis associated with congenital encephalopathy see horizontal gaze palsy with progressive scoliosis
• familial infantile scoliosis associated with bilateral paralysis of conjugate gaze see horizontal gaze palsy with progressive scoliosis
• FCMD see Fukuyama congenital muscular dystrophy
• Fetal iritis syndrome see Norrie disease
• FEVR see familial exudative vitreoretinopathy
• FOAR syndrome see Donnai-Barrow syndrome
• focal dermal hypoplasia
• Fragilitas ossium see osteogenesis imperfecta
• Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
• FRMD7-related infantile nystagmus see X-linked infantile nystagmus
• Fukuyama congenital muscular dystrophy
• Galactokinase Deficiency Disease see galactosemia
• Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosemia
• Galactose epimerase deficiency see galactosemia
• galactosemia
• GALT Deficiency see galactosemia
• Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
• gaze palsy, familial horizontal, with progressive scoliosis see horizontal gaze palsy with progressive scoliosis
• general fibrosis syndrome see congenital fibrosis of the extraocular muscles
• Glioma, retinal see retinoblastoma
• Goltz-Gorlin syndrome see focal dermal hypoplasia
• Goltz Syndrome see focal dermal hypoplasia
• Graefe-Usher syndrome see Usher syndrome
• Greig cephalopolysyndactyly syndrome
• Gronblad-Strandberg Syndrome see pseudoxanthoma elasticum
• gyrate atrophy of the choroid and retina
• Hall-Hittner syndrome see CHARGE syndrome
• Hallgren syndrome see Usher syndrome
• HCC see hypomyelination and congenital cataract
• hematuria-nephropathy-deafness syndrome see Alport syndrome
• hematuric hereditary nephritis see Alport syndrome
• hemorrhagic familial nephritis see Alport syndrome
• hemorrhagic hereditary nephritis see Alport syndrome
• hereditary arthro-ophthalmo-dystrophy see Stickler syndrome
• Hereditary arthro-ophthalmopathy see Stickler syndrome
• hereditary ceruloplasmin deficiency see aceruloplasminemia
• hereditary familial congenital hemorrhagic nephritis see Alport syndrome
• hereditary glaucoma see early-onset glaucoma
• hereditary hematuria syndrome see Alport syndrome
• hereditary interstitial pyelonephritis see Alport syndrome
• Hereditary nephritis see Alport syndrome
• hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sjögren syndrome
• Hereditary optic neuroretinopathy see Leber hereditary optic neuropathy
• HGPPS see horizontal gaze palsy with progressive scoliosis
• Hirschsprung Disease-Mental Retardation Syndrome see Mowat-Wilson syndrome
• HOGA see gyrate atrophy of the choroid and retina
• horizontal gaze palsy with progressive scoliosis
• HSD10 deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• hydroxyacyl-CoA dehydrogenase II deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• hyperornithinemia with gyrate atrophy of choroid and retina see gyrate atrophy of the choroid and retina
• hyperostosis corticalis generalisata see SOST-related sclerosing bone dysplasia
• hyperotosis corticalis generalisata familiaris see SOST-related sclerosing bone dysplasia
• hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome
• hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome
• hypoceruloplasminemia see aceruloplasminemia
• hypomyelination and congenital cataract
• Hypotonia, obesity, and prominent incisors see Cohen syndrome
• idiopathic infantile nystagmus see X-linked infantile nystagmus
• incontinentia pigmenti
• IP see incontinentia pigmenti
• isochromosome 12p syndrome see Pallister-Killian mosaic syndrome
• isolated Duane retraction syndrome
• Kjer type optic atrophy see optic atrophy type 1
• Kjer's optic atrophy see optic atrophy type 1
• Kniest dysplasia
• Krause-Kivlin syndrome see Peters plus syndrome
• Krause-van Schooneveld-Kivlin syndrome see Peters plus syndrome
• Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
• Late-onset multiple carboxylase deficiency see biotinidase deficiency
• Leber hereditary optic neuropathy
• Lenz microphthalmia syndrome
• LHON see Leber hereditary optic neuropathy
• Lowe syndrome
• lymphedema-distichiasis syndrome
• lymphedema with distichiasis see lymphedema-distichiasis syndrome
• 2M3HBA see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 3MGA see 3-methylglutaconic aciduria
• MAA see Lenz microphthalmia syndrome
• Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome
• Marchesani syndrome see Weill-Marchesani syndrome
• Marfan syndrome
• Marinesco-Garland syndrome see Marinesco-Sjögren syndrome
• Marinesco-Sjögren syndrome
• MCOPS1 see Lenz microphthalmia syndrome
• MCOPS2 see oculofaciocardiodental syndrome
• MCOPS7 see microphthalmia with linear skin defects syndrome
• Metatropic dwarfism, type II see Kniest dysplasia
• Metatropic dysplasia type II see Kniest dysplasia
• 2-methyl-3-hydroxybutyric aciduria see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 3-methylglutaconic aciduria
• MFS see Marfan syndrome
• MHBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease see Mowat-Wilson syndrome
• Microphthalmia, cataracts, radiculomegaly, and septal heart defects see oculofaciocardiodental syndrome
• microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
• Microphthalmia, syndromic 2 see oculofaciocardiodental syndrome
• microphthalmia with linear skin defects syndrome
• Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
• MIDAS syndrome see microphthalmia with linear skin defects syndrome
• ML4 see mucolipidosis type IV
• MLIV see mucolipidosis type IV
• MLS syndrome see microphthalmia with linear skin defects syndrome
• Mohr-Tranebjærg syndrome see deafness-dystonia-optic neuronopathy syndrome
• Mowat-Wilson syndrome
• MSS see Marinesco-Sjögren syndrome
• mucolipidosis type IV
• Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
• Muscular dystrophy, congenital, Fukuyama type see Fukuyama congenital muscular dystrophy
• Muscular dystrophy, congenital progressive, with mental retardation see Fukuyama congenital muscular dystrophy
• Muscular dystrophy, congenital, with central nervous system involvement see Fukuyama congenital muscular dystrophy
• Muscular Dystrophy, Oculopharyngeal see oculopharyngeal muscular dystrophy
• MWS see Mowat-Wilson syndrome
• NARP see neuropathy, ataxia, and retinitis pigmentosa
• NBIA1 see pantothenate kinase-associated neurodegeneration
• Neuroaxonal dystrophy, juvenile-onset see pantothenate kinase-associated neurodegeneration
• Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration
• neurogenic muscle weakness, ataxia, and retinitis pigmentosa see neuropathy, ataxia, and retinitis pigmentosa
• neuropathy, ataxia, and retinitis pigmentosa
• Norio syndrome see Cohen syndrome
• Norrie disease
• NYS1 see X-linked infantile nystagmus
• OA see ocular albinism
• OAT deficiency see gyrate atrophy of the choroid and retina
• obesity-hypotonia syndrome see Cohen syndrome
• OCA see oculocutaneous albinism
• ocular albinism
• ocular retraction syndrome see isolated Duane retraction syndrome
• oculo-dento-digital dysplasia see oculodentodigital dysplasia
• oculo-dento-osseous dysplasia see oculodentodigital dysplasia
• Oculo-facio-cardio-dental syndrome see oculofaciocardiodental syndrome
• Oculocerebrorenal Syndrome see Lowe syndrome
• oculocutaneous albinism
• Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome
• oculodentodigital dysplasia
• oculodentoosseous dysplasia see oculodentodigital dysplasia
• oculofaciocardiodental syndrome
• oculopharyngeal muscular dystrophy
• ODD syndrome see oculodentodigital dysplasia
• ODDD see oculodentodigital dysplasia
• ODOD see oculodentodigital dysplasia
• OFCD syndrome see oculofaciocardiodental syndrome
• OI see osteogenesis imperfecta
• Okihiro syndrome see Duane-radial ray syndrome
• OKT deficiency see gyrate atrophy of the choroid and retina
• Oligophrenia microphthalmus see Norrie disease
• ONCR see renal coloboma syndrome
• ophthalmoplegia, progressive external, and scoliosis see horizontal gaze palsy with progressive scoliosis
• Opitz G/BBB syndrome
• OPMD see oculopharyngeal muscular dystrophy
• optic atrophy type 1
• optic coloboma, vesicoureteral reflux, and renal anomalies see renal coloboma syndrome
• optic nerve coloboma renal syndrome see renal coloboma syndrome
• ornithine aminotransferase deficiency see gyrate atrophy of the choroid and retina
• ornithine-delta-aminotransferase deficiency see gyrate atrophy of the choroid and retina
• ornithine keto acid aminotransferase deficiency see gyrate atrophy of the choroid and retina
• Ornithinemia with gyrate atrophy see gyrate atrophy of the choroid and retina
• osseous-oculo-dental dysplasia see oculodentodigital dysplasia
• osteogenesis imperfecta
• Pallister-Killian mosaic syndrome
• pantothenate kinase-associated neurodegeneration
• papillorenal syndrome see renal coloboma syndrome
• 11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• Patau syndrome see trisomy 13
• PDD see Camurati-Engelmann disease
• Pelizaeus-Merzbacher disease
• Pepper syndrome see Cohen syndrome
• Peters plus syndrome
• Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome
• PKAN see pantothenate kinase-associated neurodegeneration
• PKS see Pallister-Killian mosaic syndrome
• PMD see Pelizaeus-Merzbacher disease
• Poikiloderma atrophicans and cataract see Rothmund-Thomson Syndrome
• Poikiloderma Congenitale see Rothmund-Thomson Syndrome
• Polymicrogyria with muscular dystrophy see Fukuyama congenital muscular dystrophy
• Progressive muscular dystrophy, oculopharyngeal type see oculopharyngeal muscular dystrophy
• progressive tapetochoroidal dystrophy see choroideremia
• prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
• pseudoglioma congenita see Norrie disease
• pseudoxanthoma elasticum
• PXE see pseudoxanthoma elasticum
• RB see retinoblastoma
• RCS see renal coloboma syndrome
• renal coloboma syndrome
• Retinitis pigmentosa-deafness syndrome see Usher syndrome
• retinoblastoma
• Retinoschisis see X-linked juvenile retinoschisis
• Rothmund-Thomson Syndrome
• RSTS see Rubinstein-Taybi syndrome
• RTS see Rothmund-Thomson Syndrome; Rubinstein-Taybi syndrome
• Rubinstein-Taybi syndrome
• SCAN2 see ataxia with oculomotor apraxia
• SCAR1 see ataxia with oculomotor apraxia
• Schilder-Addison Complex see X-linked adrenoleukodystrophy
• sclerosis; brain, Pelizaeus-Merzbacher see Pelizaeus-Merzbacher disease
• sclerosteosis see SOST-related sclerosing bone dysplasia
• SED congenita see spondyloepiphyseal dysplasia congenita
• SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
• SEDc see spondyloepiphyseal dysplasia congenita
• SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
• Sialolipidosis see mucolipidosis type IV
• SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
• SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type
• SOST-related sclerosing bone dysplasia
• SOST sclerosing bone dysplasia see SOST-related sclerosing bone dysplasia
• Sotos syndrome
• SOX2 anophthalmia syndrome
• SPD see spondyloperipheral dysplasia
• Spherophakia-brachymorphia syndrome see Weill-Marchesani syndrome
• spinocerebellar ataxia, recessive, non-Friedreich type 1 see ataxia with oculomotor apraxia
• spinocerebellar ataxia with axonal neuropathy type 2 see ataxia with oculomotor apraxia
• spondyloepimetaphyseal dysplasia, Strudwick type
• spondyloepiphyseal dysplasia congenita
• Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
• Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type
• spondyloperipheral dysplasia
• Stickler syndrome
• Stilling-Turk-Duane syndrome see isolated Duane retraction syndrome
• Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
• Swiss cheese cartilage dysplasia see Kniest dysplasia
• syndromic microphthalmia-7 see microphthalmia with linear skin defects syndrome
• systemic hemosiderosis due to aceruloplasminemia see aceruloplasminemia
• TCD see choroideremia
• Teschler-Nicola/Killian syndrome see Pallister-Killian mosaic syndrome
• tetra-amelia syndrome
• tetrasomy 12p, mosaic see Pallister-Killian mosaic syndrome
• Treacher Collins syndrome
• trisomy 13
• trisomy 18
• UDP-Galactose-4-Epimerase Deficiency Disease see galactosemia
• UDPglucose 4-Epimerase Deficiency Disease see galactosemia
• UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• Usher syndrome
• UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• Van Bogaert-Scherer-Epstein Disease see cerebrotendinous xanthomatosis
• van Buchem disease see SOST-related sclerosing bone dysplasia
• vitelliform macular dystrophy
• Vrolik disease see osteogenesis imperfecta
• Waardenburg syndrome
• WAGR Complex see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• WAGR syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• Weill-Marchesani syndrome
• Werner syndrome
• Whitnall-Norman syndrome see Norrie disease
• Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• WMS see Weill-Marchesani syndrome
• WS see Werner syndrome
• X-ALD see X-linked adrenoleukodystrophy
• X-linked adrenoleukodystrophy
• X-linked congenital stationary night blindness
• X-linked infantile nystagmus
• X-linked juvenile retinoschisis
• X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome
• Xanthomatosis, Cerebrotendinous see cerebrotendinous xanthomatosis
• XLCSNB see X-linked congenital stationary night blindness
• XLOA see ocular albinism
• zygoauromandibular dysplasia see Treacher Collins syndrome