Genetic Diseases & Conditions - 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.

Adrenoleukodystrophy see X-linked adrenoleukodystrophy
Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
Adult premature aging syndrome see Werner syndrome
Adult Progeria see Werner syndrome
Albinism, Oculocutaneous see oculocutaneous albinism
Alport syndrome
Alström syndrome
Anderson-Warburg syndrome see Norrie disease
Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type
Atrophia bulborum hereditaria see Norrie disease
Bartholin-Patau syndrome see trisomy 13
biotinidase deficiency
Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
Bloch-Siemens syndrome see incontinentia pigmenti
Bloch-Sulzberger Syndrome see incontinentia pigmenti
Brittle bone disease see osteogenesis imperfecta
Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
Chromosomal imbalance syndrome, pair 13, trisomy see trisomy 13
Chromosomal imbalance syndrome, pair 18, trisomy see trisomy 18
chromosome 13 trisomy syndrome see trisomy 13
Classic Galactosaemia see galactosaemia
Classical Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, classical type
colour vision deficiency
Complete trisomy 13 syndrome see trisomy 13
Complete trisomy 18 syndrome see trisomy 18
congenital hereditary hematuria see Alport syndrome
congenital progressive oculo-acoustico-cerebral degeneration see Norrie disease
Cystine diathesis see cystinosis
Cystine disease see cystinosis
Cystine storage disease see cystinosis
Cystinoses see cystinosis
cystinosis
D1 Trisomy see trisomy 13
Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
Deafness-retinitis pigmentosa syndrome see Usher syndrome
Dermatosparactic type of Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, dermatosparaxis type
Dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome
E3 Trisomy see trisomy 18
early-onset glaucoma
EDS see Ehlers-Danlos syndrome
Edwards Syndrome see trisomy 18
Ehlers-Danlos syndrome
Ekman-Lobstein disease see osteogenesis imperfecta
Episkopi blindness see Norrie disease
Fetal iritis syndrome see Norrie disease
Fragilitas ossium see osteogenesis imperfecta
Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
Galactokinase Deficiency Disease see galactosaemia
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosaemia
galactosaemia
GALT Deficiency see galactosaemia
Glioblastoma, retinal see retinoblastoma
Glioma, retinal see retinoblastoma
Graefe-Usher syndrome see Usher syndrome
Greig cephalopolysyndactyly syndrome
Gronblad-Strandberg Syndrome see pseudoxanthoma elasticum
Hallgren syndrome see Usher syndrome
hematuria-nephropathy-deafness syndrome see Alport syndrome
hematuric hereditary nephritis see Alport syndrome
haemorrhagic familial nephritis see Alport syndrome
haemorrhagic hereditary nephritis see Alport syndrome
Hereditary arthro-ophthalmopathy see Stickler syndrome
hereditary familial congenital haemorrhagic 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
Human dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
incontinentia pigmenti
IP see incontinentia pigmenti
Kniest dysplasia
Lysyl-hydroxylase deficiency see Ehlers-Danlos syndrome, kyphoscoliosis type
Mandibulofacial Dysostosis see Treacher Collins syndrome
Metatropic dwarfism, type II see Kniest dysplasia
Metatropic dysplasia type II see Kniest dysplasia
3-methylglutaconic aciduria
MFD1 see Treacher Collins syndrome
Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
NBIA1 see pantothenate kinase-associated neurodegeneration
Neuroblastoma, retinal see retinoblastoma
Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration
Norrie disease
OCA - Oculocutaneous albinism see oculocutaneous albinism
oculocutaneous albinism
OI see osteogenesis imperfecta
Oligophrenia microphthalmus see Norrie disease
osteogenesis imperfecta
Osteopsathyrosis see osteogenesis imperfecta
pantothenate kinase-associated neurodegeneration
Patau syndrome see trisomy 13
PKAN see pantothenate kinase-associated neurodegeneration
Procollagen type EDS VII, mutant see Ehlers-Danlos syndrome, arthrochalasia type
Progressively deforming osteogenesis imperfecta with normal sclerae see osteogenesis imperfecta, type III
pseudoglioma congenita see Norrie disease
pseudoxanthoma elasticum
PXE - Pseudoxanthoma elasticum see pseudoxanthoma elasticum
RB see retinoblastoma
Retinitis pigmentosa-deafness syndrome see Usher syndrome
retinoblastoma
RSTS see Rubinstein-Taybi syndrome
RTS see Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome
Sack-Barabas syndrome see Ehlers-Danlos syndrome, vascular type
Schilder-Addison Complex see X-linked adrenoleukodystrophy
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
SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type
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
Spondylometaphyseal Dysplasia, Strudwick Type see spondyloepimetaphyseal dysplasia, Strudwick type
Stickler syndrome
Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
Swiss cheese cartilage dysplasia see Kniest dysplasia
Treacher Collins syndrome
Trias fragilitis ossium see osteogenesis imperfecta, type I
trisomy 13
trisomy 18
UDP-Galactose-4-Epimerase Deficiency Disease see galactosaemia
UDPglucose 4-Epimerase Deficiency Disease see galactosaemia
UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia
Usher syndrome
UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia
Van der Hoeve syndrome see osteogenesis imperfecta, type I
vitelliform macular dystrophy
Vrolik disease see osteogenesis imperfecta
Waardenburg syndrome
Werner syndrome
Whitnall-Norman syndrome see Norrie disease
WS see Werner syndrome
X-linked adrenoleukodystrophy

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