Nanophthalmos 3 Clinical CharacteristicsOcular Features: A six generation Chinese family has been reported in which 12 affected members had small eyes, ptosis, apparent enophthalmos, shallow anterior chambers, and small corneas. Hyperopic refractive errors ranged from +6.00 to +11.25 (mean +8.25). Systemic Features: None reported. GeneticsThe transmission pattern for this 6 generation family strongly suggests autosomal dominant inheritance. No mutation has been identified but the 2q11-14 locus is strongly associated with the phenotype. Pedigree: Autosomal dominantTreatmentTreatment Options: Treatment has not been reported but monitoring for narrow angle glaucoma is advised. ReferencesArticle Title: Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14 Li H, Wang JX, Wang CY, Yu P, Zhou Q, Chen YG, Zhao LH, Zhang YP. Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14. Hum Genet. 2008 Jan;122(6):589-93. PubMed ID: 17924146 Read more about Nanophthalmos 3
Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14 Li H, Wang JX, Wang CY, Yu P, Zhou Q, Chen YG, Zhao LH, Zhang YP. Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14. Hum Genet. 2008 Jan;122(6):589-93. PubMed ID: 17924146
