Last update
7/19/2000
Eye Research Network
&LensNet

LensGDDB

Kenneth P. Mitton, Ph.D., Editor

Eye Research Institute - Oakland University
Rochester MI, USA

 
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LensGDDB: Human Lens Genetic Disease Database

The information within this database is present in the literature and also in the Online Mendelian Inheritance in Man (OMIM) database (National Library of Medicine). What we have tried to provide the interested researcher and the general public is an overview presentation of parameters all in one place for easy and convenient reference. The Web Access LensGDDB was first brought online on 3/1/2000 and is in constant update and construction. Your comments and suggestions are welcome, please email me personally (Ken Mitton, ken@mitton.com) if you have suggestions or simply to let me know if you like this new resource.

Note that the "OMIM Dbase Link" is provided for your convenient direct access into the pertinent OMIM database file for each disease locus. The OMIM information provides literature references to Medline catalogued papers and chapters for the biology/disease and linkage/mapping history.

I have just programmed the Chromosome "Position" to link with the OMIM GeneMap to retrieve the genes and diseases databased at or near the map location. (3/5/2000)



LensNet and the Eye Research Network are indebted to Dr. J. Fielding Hejtmancik, National Eye Institute, National Institutes of Health for advice on database presentation format and for providing some of the initial collected data to begin this database. This is a non-profit resource programmed by volunteer effort (Ken Mitton). I also extend my thanks already to several members of our community that have sent me some constructive feedback, update, and new information for the database.

Locus (phenotype) Chromosome Position Mendelian Type Morphology Gene Number of Families OMIM Dbase Link Comments
CAE1(CZP1, Duffy linked) 1 1q21-q25 AD zonular pulverulent connexin50 (GJA8) 2 116200  
CCV (Volkmann) 1 1pter-p36.13 AD variable (progressive central and zonular with sutural component)   1 115665  
CACA 2 2q33-q35 AD crystalline, needles   3 115700 linkage to gamma-crystallin gene cluster
CCL (Coppock like) 2 2q33-q35   Nuclear lamellar (Coppock-like), aculeiform, variable nuclear gammaE-crystallin 3 123660  
nulcear, perinuclear 2 2q33-q35 AD nuclear, perinuclear punctate opacities gammaD-crystallin (R14C) 1 new Stephan et al., Proc. Natl. Acad. Sci. USA 96:1008?1012 (1999)
CCP (polymorphic congentital) 2 2q33-q35 AD polymorphic non-nuclear     601286 linkage to gamma-crystallin gene cluster
CZP3 (zonular pulverulent) 13 13q11-q12 AD zonular pulverulent, punctate cataract connexin-46 (CJA3) 2 601885  
CTAA1(anterior polar) 14 14q24-qter   anterior polar cataracts     115650  
CAM (Marner, CTM) 16 16q22   variable (progressive central and zonular nuclear, anterior polar, or stellate)   2 116800  
CCA1 (cerulean-blue dot) 17 17q24   cerulean (nuclear and cortical)   1 115660  
CCZS-LSB (zonular sutural) 17 17q11-q12   variable nuclear lamelar with sutural component near betaA3-crystallin 1 600881  
CTAA2 (anterior polar) 17 17p13   anterior polar   1 601202  
Hyperferritinemia Cataract Syndrome 19 19q13.3-q13.4 AD     3 600886 1 family has mutation in 5prime noncoding region of ferritin light chain gene
ADCC-2 21 21q22.3   zonular central nuclear opacities alphaA-crystallin (CRYAA) R116C 1 123580  
CCA2 (cerulean-blue dot) 22 22q   cerulean betaB2-crystallin 1 601547  
 
ERN Home
Research Journals
Positions In Eye Research
Tools for Research
Meetings & Notices
Lens GDDB
MyScienceStore
Vision and Blindness Prevention News
ERN's Major Eye Disease Info Guides
ERN's Free WebMail Services
Foundation Fighting Blindness
Mitton Internet Solutions




By Kenneth P Mitton, PhD
Email: ken@mitton.com