Cone Dystrophy 3 Clinical CharacteristicsOcular Features: The evidence for the existence of pure cone dystrophies is inconclusive. Certainly some patients at least early in the disease seem to have pure cone dysfunction but eventually rod involvement becomes apparent. Loss of central acuity and color vision occurs in young adults between the ages of 20 and 40 years. Symptoms usually worsen with age and most patients eventually are legally blind. Photophobia is common. Pigmentary mottling in the retina may be evident before symptoms appear. Thinning of the retina, especially the macula, is seen late in the disease. Peripheral visual fields and rod function are often normal for many years although scotopic responses on the ERG eventually become attenuated. Systemic Features: No systemic disease is associated with cone dystrophies. GeneticsThere is considerable genetic and clinical heterogeneity in photoreceptor disease. Heterozygous mutations in the GUCA1A (GCAP1) gene located at 6p21.1 seem to be responsible for this form of cone dystrophy, and inheritance therefore follows an autosomal dominant pattern. However, mutations in the same gene are also associated with macular dystrophy. The same region contains the RDS (PRPH2) gene which is also known to cause retinitis pigmentosa (608133) and fundus albipunctatus (136880). RDS (PRPH2) mutations have also been reported in some cases of so-called adult-onset vitelliform macular dystrophy (AVMD)(608161). Another autosomal dominant cone dystrophy, RCD1, has been linked to a locus at 6q25-q26 but the gene has not yet been identified (180020). There is also a cone dystrophy with primarily peripheral involvement (609021). Pedigree: Autosomal dominantTreatmentTreatment Options: No treatment for the disease is available but low vision aids can be helpful in selected patients. Red tinted lenses may provide comfort in bright light. ReferencesArticle Title: Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR.Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. Ophthalmology. 2005 Aug;112(8):1442-7. PubMed ID: 15953638 Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A) Jiang L, Katz BJ, Yang Z, Zhao Y, Faulkner N, Hu J, Baird J, Baehr W, Creel DJ, Zhang K. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). Mol Vis. 2005 Feb 20;11:143-51. PubMed ID: 15735604 A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, Bhattacharya SS. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet. 1998 Feb;7(2):273-7. PubMed ID: 9425234 Read more about Cone Dystrophy 3
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR.Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. Ophthalmology. 2005 Aug;112(8):1442-7. PubMed ID: 15953638
Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A) Jiang L, Katz BJ, Yang Z, Zhao Y, Faulkner N, Hu J, Baird J, Baehr W, Creel DJ, Zhang K. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). Mol Vis. 2005 Feb 20;11:143-51. PubMed ID: 15735604
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, Bhattacharya SS. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet. 1998 Feb;7(2):273-7. PubMed ID: 9425234
