Grand Rounds
  Most Recent Cases
  Dates of Case
  Type of Case
  Submit a Grand Round.
  Register with DJO to receive personalized updates.

If you're already a
member, please sign in.
A 19-month-old girl with nystagmus, paradoxical pupillary response and low vision
Digital Journal of Ophthalmology 2008
Volume 14, Number 6
February 25, 2008
Printer Friendly



Sandra Rocio Montezuma, M.D. | Massachusetts Eye and Ear Infirmary
References
1. Simunovic MP, Moore AT. The cone dystrophies. Eye. 1998;12 (Pt 3b):553-65.
2. Ben Simon GJ, Abraham FA, Melamed S. Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features. Br J Ophthalmol. 2004;88(2):223-5.
3. Haegerstrom-Portnoy G, Schneck ME, Verdon WA, Hewlett SE. Clinical vision characteristics of the congenital achromatopsias. I. Visual acuity, refractive error, and binocular status. Optom Vis Sci. 1996;73(7):446-56.
4. Kohl S, Marx T, Giddings I, et al. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet. 1998;19(3):257-9.
5. Wissinger B, Gamer D, Jagle H, et al. CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet. 2001;69(4):722-37.
6. Kohl S, Varsanyi B, Antunes GA, et al. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet. 2005;13(3):302-8.
7. Aligianis IA, Forshew T, Johnson S, et al. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet. 2002;39(9):656-60.
8. Andreasson S, Tornqvist K. Electroretinograms in patients with achromatopsia. Acta Ophthalmol (Copenh). 1991;69(6):711-6.
9. Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol. 2004;88(2):291-7.
top