Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized by a small eye and other ocular abnormalities. Three microphthalmia/anophthalmia loci have been identified, and two others have been inferred by the co-segregation of translocations with the phenotype. We previously found that mice with ocular retardation (the or-J allele), a microphthalmia phenotype, have a null mutation in the retinal homeobox gene Chx10 (refs 7,8). We report here the mapping of a human microphthalmia locus on chromosome 14q24.3, the cloning of CHX10 at this locus and the identification of recessive CHX10 mutations in two families with non-syndromic microphthalmia (MIM 251600), cataracts and severe abnormalities of the iris. In affected individuals, a highly conserved arginine residue in the DNA-recognition helix of the homeodomain is replaced by glutamine or proline (R200Q and R200P, respectively). Identification of the CHX10 consensus DNA-binding sequence (TAATTAGC) allowed us to demonstrate that both mutations severely disrupt CHX10 function. Human CHX10 is expressed in progenitor cells of the developing neuroretina and in the inner nuclear layer of the mature retina. The strong conservation in vertebrates of the CHX10 sequence, pattern of expression and loss-of-function phenotypes demonstrates the evolutionary importance of the genetic network through which this gene regulates eye development.

Patients with ocular rosacea not only had decreased tear production but also tear instability. Ocular surface epithelium had significant degeneration in patients compared with normal subjects.

Direct clinical examination may be insignificant in the proper diagnosis of corneal dystrophies, and molecular genetic approach may be required.

Deficient color vision in the amblyopic eyes was not related to the visual acuity and type of amblyopia.

Purpose To evaluate the effect of topical dorzolamide on postoperative intraocular pressure (IOP) after routine phacoemulsification surgery with different type of ophthalmic viscosurgical device (OVD). Methods Patients who were scheduled for phacoemulsification with intraocular lens (IOL) implantation were evenly divided into four groups. Group I (83 eyes) received one drop of topical dorzolamide immediately after surgery and 1.4% NaHa (BD Visc®) was used as a cohesive OVD during IOL implantation. Group II (83 eyes) did not receive any topical antiglaucoma medication after operation and 1.4% NaHa was used as a cohesive OVD. Group III (83 eyes) received topical dorzolamide and 1% NaHa (Healon®) was used, and Group IV (83 eyes) did not receive any topical and 1% NaHa was used in operation. Mean postoperative IOPs were compared between groups. Results Eyes with 1.4% NaHa usage (18.2±9.2 mmHg) had higher mean postoperative IOPs than eyes with 1% NaHa usage (15.5±5.3 mmHg) (p=0.002). Mean postoperative IOPs were lower in eyes with dorzolamide application (15.6±7.2 mmHg) than in eyes without any medication (18.1±8.5 mmHg) both in eyes with 1.4% NaHa and 1% NaHa usage (p=0.003). Dorzolamide application caused an average 2.5 mmHg decrease in mean postoperative IOPs in both groups. Conclusions Effects of OVDs on IOP rises after phacoemulsification surgery are closely related to their molecular structure. Increase in viscosity rendered higher postoperative IOP increments. However, topical dorzolamide application effectively reduced postoperative IOP increments in eyes with both Healon® and BD Visc® use. (Eur J Ophthalmol 2007; 17: 38–44)