Genes & Eye Diseases

Chromosome 1:

·         Fuch’s dystrophy, COL8A2, AD

·         Posterior polymorphous dystrophy, ­­PPCD2, AD

·         Stickler syndrome, COL2A, AD

·         Gelatinous drop like dystrophy, TYACSTD, AR

·         Schnyder corneal dystrophy, MJNFR, AD

·         EDS, EDS6, AR

·         Congenital glaucoma, GLC3B, AR

·         JOAG, Myocillin, AD

·         Stargardt’s, ABCA4, AR

·         ARMD, CFH1

·         Usher syndrome, AR

·         Chediak higashi syndrome, LYST, AR

·         Leber’s congenital amaurosis, RPE65, AR

Chromosome 2:

·         Congenital Glaucoma, CYP1B1, AR

·         Oguchi’s disease, Arrestin, AR

·         PXE, laminin/fibrillin, AR

·         Autosomal dominant drusen, EFEMP1, AD

·         Fleck dystrophy, PIP5K3, AD

Chromosome 3:

·         BPES 1 (with premature ovarian failure) and BPES 2 (without premature ovarian failure) are caused by type 1 mutations in FOXL2 gene

·         Von Hippel–Lindau syndrome Inheritance is AD condition caused by a mutation of the VHL gene clusterin

·         Retinitis pigmentosa, Rhodopsin, AD

·         Xeroderma pigmentosa, NER enzyme, AR

·         Alkaptonuria, homogentisate 1-2 dihydroxygenase, AR

·         Kjer autosomal dominant optic atrophy, OPA1, AD

Chromosome 4:

·         Axenfield Rieger syndrome, PITX2, AD

·         CSNB, PDE6, AR

·         Wolfram syndrome, WFS1, AR

·         Hurler syndrome, alpha L iduronidase, AR

·         Bietti dystrophy, CYP4V2, AR

·         Fraser syndrome, FRAS1, AR

Chromosome 5:

·         Treacher Collins syndrome (mandibulofacial dysostosis) Inheritance is AD with high penetrance and variable expressivity, although 60% of cases occur with no family history and are thought to arise by de novo mutation. The gene involved is the ‘treacle’ gene TCOF1 on chromosome 5q.

·         Cri du chat syndrome (partial deletion of 5p)

·         Mutations in TGFB1 on chromosome 5 cause CDB1, CDB2, lattice type 1, lattice type 3A, Avellino, and granular dystrophy. These are therefore allelic variants.

Chromosome 6:

·         Adult-onset macular vitelliform dystrophy is caused by mutation in the RDS gene on chrn Dysromosome 6p, as well as the BEST1 gene in common with juvenile-onset Best dystrophy.

·         VEGF

·         Pattern dystrophy, RDS/ peripherin, AD

·         Axennfeld reiger syndrome, FOXC1, AD

Chromosome 7:

·         Galactosemia classic, galactose 1 phosphate uridyl transaferase, AR

·         Pigment dispersion syndrome, AD

Chromosome 8:

Chromosome 9:

·         Lattice 2, gelsolin, AR

·         Nevoid BCC syndrome, PTCH, AD

·         Rilet Day syndrome, IKBKAP, AR

Chromosome 10:

·         Crouzon syndrome Inheritance is usually AD, but 25% of cases represent a fresh mutation. The gene (FGFR2) has been isolated to chromosome 10.

·         Thiel behnke dystrophy, AD

·         MEN2B, RET proto-oncogene, AD

·         Gyrate atrophy, OAT, AR

·         NTG-COAG, optineurin, AD

Chromosome 11:

·         Aniridia, peter’s, AD keratitis, Axenfed reiger: PAX6, AD

·         Nanophthalmos, NNO1, AD

·         Best disease, 11q13 bestrophin, AD

·         FEVR, frizzled 4 gene, AD

·         OCA, TYR/OCA2, AR

·         CFEOM2: 11q13

Chromosome 12:

·         CFEOM-1:

·         Cornea plana, KERA, AR

·         CHSD, DCN, AD

·         Meesman dystrophy, KRT3, AD

·         Fundus albipunctatous, RDH5, AR

Chromosome 13:

·         Retinoblastoma, 13q14, AD

·         Sclerocornea, HCCS, AD

·         Microphthalmos, Trisomy 13

·         Congenital microcornea, AD

·         Oguchi disease, rhodopsin kinase, AR

·         Late onset fuchs dystrophy, FECD2, AD

·         CFEOM-3

Chromosome 14:

·         Oculopharyngeal dystrophy Inheritance is AD caused by mutation on chromosome 14q.

Chromosome 15:

·         Marfan syndrome: FBN1, AD

Chromosome 16:

·         Posterior Polar Cataract: mutation of PITX3 gene

·         Macular dystrophy, CHST6, AR

·         Pseudo xantoma elasticum, ABCC6, AR

·         Fish eye disease, LCAT, AR

·         Tyrosenemia, tyrosine amino transferase, AR

Chromosome 17:

·         Meesman dystrophy, AD

·         NF1, NF1, AD

·         Cystinosis, CTNS, AR

Chromosome 18:

·         Edwards syndrome (trisomy 18)

·         Transthyretin

Chromosome 19:

Chromosome 20:

·         CHED AD, CHED1 20911, AD

·         CHED AR< CHED2 20p13, AR

·         PPMD2, VSX1, AD

Chromosome 21:

·         Down syndrome (trisomy 21)

·         Homocystinuria: Inheritance is AR with the gene locus on chromosome 21q.22.3.

Chromosome 22:

·         NF2, NF2, AD

·         Sorsby dystrophy, TIMP3, 22q13, AD

Chromosome X:

XR

·         Fabry disease, alpha galactokinase

·         CSNB, calcium channels

·         Megalocornea, LTBP2

·         Coat’s disease, NDP

·         FEVR, NDP

·         Retinitis pigmentosa, RPGR

·         Choroderemia, REP1

·         Norrie disease, NDP gene on chromosome Xp11.

XD

·         Lowe syndrome, OCRL1

·         Alport’s syndrome, COL4A3

·         Aicardi syndrome

·         Incontinentia pigmenti: NEMO gene on chromosome Xq28.

·         Ichthyosis, STS

Chromosome Y: