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:
·         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.
·         Lowe syndrome, OCRL1
·         Alport’s syndrome, COL4A3
·         Aicardi syndrome
·         Incontinentia pigmenti: NEMO gene on chromosome Xq28.
·         Ichthyosis, STS

Chromosome Y:

- compiled & published by Dr Dhaval Patel MD AIIMS