Novel disease-causing variants and phenotypic features of X-linked megalocornea.

Purpose: The aim of the study was to describe the phenotype and molecular genetic causes of X-linked megalocornea (MGC1). We recruited four British, one New Zealand, one Vietnamese and four Czech families.

Methods: All probands and three female carriers underwent ocular examination and Sanger sequencing of the CHRDL1 gene.

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.

Background: Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene.

Corneal changes assessed using confocal microscopy in patients with unilateral buphthalmos.

Purpose: To compare corneal structures in buphthalmic eyes and healthy eyes in patients with unilateral congenital glaucoma using a corneal confocal microscope.

Methods: Ten patients with unilateral buphthalmos (mean ± SD age, 14.85 ± 5.

The retinal nerve fibre layer thickness in glaucomatous hydrophthalmic eyes assessed by scanning laser polarimetry with variable corneal compensation in comparison with age-matched healthy children.

Purpose: To compare the thickness of the retinal nerve fibre layer (RNFL) in hydrophthalmic glaucomatous eyes in children with age-matched healthy controls using scanning laser polarimetry with variable corneal compensation (GDxVCC).

Methods: Twenty hydrophthalmic eyes of 20 patients with the mean age of 10.64 ± 3.

Central corneal thickness in microphthalmic eyes with or without history of congenital cataract surgery.

Purpose: To determine the central corneal thickness (CCT) in microphthalmic aphakic or pseudophakic eyes as well as in microphthalmic eyes without any history of eye surgery.

Methods: Thirty-two patients with a mean age of 6.41±5.

The occurrence and features of the atypical birefringence pattern in scanning laser polarimetry using GD × VCC in healthy children and its impact on the retinal nerve fiber layer thickness values.

Purpose: To investigate the occurrence and features of the atypical birefringence pattern (ABP) images in scanning laser polarimetry with variable corneal compensation (GD×VCC) in healthy children and to assess their impact on the values of the retinal nerve fiber layer (RNFL) thickness.

Methods: GD×VCC scans in 120 healthy white school-aged children with mean age ± standard deviation (SD) 12.85 ± 3.

[Two types of CMV ocular complications in patients with HIV infection].

CMV retinitis is the most serious ocular complication of AIDS. Introduction of the combination antiretroviral therapy markedly reduced the occurrence of CMV retinitis, on the other hand it brought a new ocular complication - CMV uveitis. CMV uveitis is an immunopathological inflammatory reaction associated with the immune reconstitution inflammatory syndrome, which is a side effect of successfully initiated cART.

Retinal nerve fiber layer assessment in healthy children using scanning laser polarimetry with variable corneal compensation.

Purpose: To assess the normative data of the retinal nerve fiber layer (RNFL) thickness in healthy children using the scanning laser polarimeter with variable corneal compensation (GDxVCC).

Methods: Of the 186 enrolled white school-aged children, 120 subjects of the mean 12.85 +/- 3.

Results of the modified trabeculotomy in the treatment of primary congenital glaucoma.

Purpose: To evaluate the effect of trabeculotomy employing probes with curvatures more closely corresponding to variable course of Schlemm's canal.

Methods: Forty-six children with primary congenital glaucoma who underwent trabeculotomy with newly designed probes between 1990 and 1998 were evaluated retrospectively. One set of the newly designed instruments consists of 3 pairs of trabeculotomy probes, the curvatures of which correspond to corneal diameters of 10, 12, and 14 mm.