Does lens status affect the course of early intraocular pressure and anterior chamber changes after intravitreal injection?

PURPOSE: This study aimed to observe changes in anterior chamber parameters and the course of intraocular pressure (IOP) after injection of 0.1 ml intravitreal triamcinolone acetonide (TA) and to determine differences between phakic and pseudophakic eyes without vitreous reflux. METHODS: A prospective observational clinical trial was conducted with 89 patients who received an intravitreal injection of TA and did not display vitreous reflux. Intraocular pressure measurements were made before injection and at 3, 10, 20, 30 and 40 mins after injection. Pentacam measurements were made before injection and at 5, 15, 30 and 45 mins after injection. RESULTS: Anterior chamber depth (ACD) and anterior chamber volume (ACV) were significantly greater in pseudophakic eyes than in phakic eyes at all measurement time-points (p < 0.001). There was a decrease in both ACD and ACV at 5 mins after injection, and a gradual increase to normal values was observed at 15, 30 and 45 mins after injection in all study eyes. Compared with pre-injection measurements, changes in ACD and ACV were statistically significant at each time-point in both phakic and pseudophakic eyes (p < 0.001). A significant increase in IOP within 3 mins of injection was observed in both groups and a more rapid decrease 10 mins after injection was observed in pseudophakic eyes. The differences in IOP between phakic and pseudophakic eyes at all measurement time-points, except baseline and 3 mins after injection, were statistically significant (p < 0.001). Intraocular pressure < 30 mmHg and < 24 mmHg was recorded in all pseudophakic eyes at 10 and 20 mins after intravitreal injection, respectively. CONCLUSIONS: Following intravitreal injection of 0.1 ml TA, without vitreous reflux, IOP decreased to safe levels more quickly in pseudophakic eyes than in phakic eyes. Although there were more pronounced changes in anterior chamber parameters in pseudophakic eyes, these changes were reversible without any residual clinical significance.

In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy.

PURPOSE: To describe the clinical and in vivo confocal microscopic findings of the cornea in 2 patients with Bietti crystalline corneoretinal dystrophy using Heidelberg Retina Tomograph II Rostock Cornea Module. METHODS: Two women 25 and 33 years of age underwent ophthalmologic assessment, including fundus photography, optical coherence tomography, fluorescein angiography, electroretinography, and in vivo confocal microscopy. RESULTS: Slit-lamp examination revealed crystalline deposits at the superior limbus of the cornea in both of the subjects. Fundus examination disclosed numerous glistening yellowish white crystalline deposits scattered throughout the posterior pole and midperipheral retina, retina pigment epithelium and choriocapillaris atrophy; pigment clumping; and retinal scarring. Optical coherence tomography demonstrated hyperreflective red and white areas corresponding to the crystalline deposits in the retinal pigment epithelium-choriocapillaris complex. In vivo confocal microscopy of the superior paralimbal area showed randomly oriented needle-shaped or rod-shaped crystals up to 40 microm in length and 4-8 microm in width in the epithelium and the stroma. In other areas, the epithelium, stroma, and endothelium had normal appearance with no deposits. CONCLUSIONS: In vivo confocal microscopy is a noninvasive examination technique that shows clearly the corneal crystals located mainly in the superior paralimbal area in Bietti crystalline corneoretinal dystrophy, which can easily be missed even by an experienced ophthalmologist and therefore may aid further in the diagnosis.

Ocular changes in primary hypothyroidism.

BACKGROUND: To determine the ocular changes related to hypothyrodism in newly diagnosed patients without orbitopathy. FINDINGS: Thirty-three patients diagnosed to have primary overt hypothyroidism were enrolled in the study. All subjects were assigned to underwent central corneal thickness (CCT), anterior chamber volume, depth and angle measurements with the Scheimpflug camera (Pentacam, Oculus) and cup to disc ratio (C/D), mean retinal thickness and mean retinal nerve fiber layer (RNFL) thickness measurements with optical coherence tomography (OCT) in addition to ophthalmological examination preceeding the replacement therapy and at the 1(st), 3(rd )and 6(th )months of treatment. The mean age of the patients included in the study were 40.58 +/- 1.32 years. The thyroid hormone levels return to normal levels in all patients during the follow-up period, however the mean intraocular pressure (IOP) revealed no significant change. The mean CCT was 538.05 +/- 3.85 mu initially and demonstrated no statistically significant change as the anterior chamber volume, depth and angle measurements did. The mean C/D ratio was 0.29 +/- 0.03 and the mean retinal thickness was 255.83 +/- 19.49 mu initially and the treatment did not give rise to any significant change. The mean RNFL thickness was also stable during the control visits, so no statistically significant change was encountered. CONCLUSIONS: Neither hypothyroidism, nor its replacement therapy gave rise to any change of IOP, CCT, anterior chamber parameters, RNFL, retinal thickness and C/D ratio.

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

PURPOSE: Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3. METHODS: All pedigrees and sporadic individuals with CFEOM3 in the authors' database were identified, whether the pedigrees were linked or consistent with linkage to the FEOM1, FEOM2, and/or FEOM3 loci was determined, and the appropriate pedigrees and the sporadic individuals were screened for mutations in KIF21A and PHOX2A. RESULTS: Twelve CFEOM3 pedigrees and 10 CFEOM3 sporadic individuals were identified in the database. The structures of eight of the pedigrees permitted the generation of meaningful linkage data. KIF21A was screened in 17 probands, and mutations were identified in two CFEOM3 pedigrees. One pedigree harbored a novel mutation (2841G-->A, M947I) and one harbored the most common and recurrent of the CFEOM1 mutations identified previously (2860C-->T, R954W). None of CFEOM3 pedigrees or sporadic individuals harbored mutations in PHOX2A. CONCLUSIONS: The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 and that KIF21A mutations can be nonpenetrant. Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype.

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.