CRYGD gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: crystallin gamma D
  • Lens-specific protein with structural and functional components
  • Highly organized, compact structures that contribute to the refractive index of the lens
  • Interacts with other crystallins to maintain lens transparency
Clinical phenotype
(OMIM phenotype no.)
  • Cataract 4, multiple types (#115700)
  • Autosomal dominant
Ocular features
Systemic features
  • No extraocular features have been reported
Key investigations
  • Measurement of corneal diameter
  • B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities
  • Electrophysiology
  • TORCH screen
  • Assessment with a paediatrician if suspicious of systemic involvement
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (cataract)
  • Whole exome sequencing
  • Whole genome sequencing
Therapies under research
  • None at present
Further information

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  1.  Hansen L, Yao W, Eiberg H, et al. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci. 2007;48(9):3937‐3944
  2.  Héon E, Priston M, Schorderet DF, et al. The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet. 1999;65(5):1261‐1267
  3.  Kmoch S, Brynda J, Asfaw B, et al. Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. Hum Mol Genet. 2000;9(12):1779‐1786
  4.  Nandrot E, Slingsby C, Basak A, et al. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. J Med Genet. 2003;40(4):262‐267
  5.  Pande A, Pande J, Asherie N, et al. Molecular basis of a progressive juvenile-onset hereditary cataract. Proc Natl Acad Sci U S A. 2000;97(5):1993‐1998
  6.  Rogaev EI, Rogaeva EA, Korovaitseva GI, et al. Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35. Hum Mol Genet. 1996;5(5):699‐703
  7.  Stephan DA, Gillanders E, Vanderveen D, et al. Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci U S A. 1999;96(3):1008‐1012
  8.  Hilal L, Nandrot E, Belmekki M, et al. Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts. Ophthalmic Genet. 2002;23(4):199-208

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Updated on November 30, 2020
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