Glaucoma, Congenital Primary C Clinical CharacteristicsOcular Features: It might be expected that the classic signs of glaucoma with buphthalmos, Haab striae, elevated intraocular pressure, corneal edema, and optic nerve damage would be present. Published information regarding ocular changes does not provide details. Systemic Features: No systemic manifestations have been reported. GeneticsStudies in a group of Chinese Han sibships (normal parents) containing patients with congenital glaucoma, and in which CYP1B1 mutations (responsible for type A congenital glaucoma) (231300) were ruled out, revealed areas of homozygosity in the q24.3 region of chromosome 14. The authors considered this to be confirmation of a locus in the GLC3C area as previously suggested by studies on a 5-generation consanguineous Turkish family. No specific mutation has been identified, however. TreatmentTreatment Options: Standard congenital glaucoma treatments can be applied. ReferencesArticle Title: Confirmation and further mapping of the GLC3C locus in primary congenital glaucoma [1] Chen X, Chen Y, Wang L, Jiang D, Wang W, Xia M, Yu L, Sun X. Confirmation and further mapping of the GLC3C locus in primary congenital glaucoma. Front Biosci. 2011 Jun 1;16:2052-9. PubMed ID: 21622161 The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3 [2] Stoilov, I. R., Sarfarazi, M.The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3. (Abstract) Invest. Ophthal. Vis. Sci. 43: e3015, 2002. Note: Electronic Article. PubMed ID: Abstract
Confirmation and further mapping of the GLC3C locus in primary congenital glaucoma [1] Chen X, Chen Y, Wang L, Jiang D, Wang W, Xia M, Yu L, Sun X. Confirmation and further mapping of the GLC3C locus in primary congenital glaucoma. Front Biosci. 2011 Jun 1;16:2052-9. PubMed ID: 21622161
The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3 [2] Stoilov, I. R., Sarfarazi, M.The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3. (Abstract) Invest. Ophthal. Vis. Sci. 43: e3015, 2002. Note: Electronic Article. PubMed ID: Abstract
