Microphthalmia, aphakia and agenesis of the optic chiasm and tract in a wild fox squirrel (Sciurusniger).

We describe gross and histopathological features of multiple ocular and neuro-ophthalmic abnormalities in a fox squirrel (Sciurus niger). Ophthalmic findings included severe bilateral microphthalmos, with the right eye more affected than the left. Histopathology confirmed severe microphthalmia, aphakia, disorganized retinal tissue and small optic nerves, as well as agenesis of the optic chiasm and optic tract. This combination of neuro-ophthalmic abnormalities has not been previously described in wild animals.

Congenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf.

A Holstein calf was born with a large protruding right eye and a central corneal opacity. Enucleation was the first choice of treatment. The calf had a good prognosis and was raised for milking purposes. Macroscopically, the enucleated eye was characterized by the protruded cornea, adherence of the iris to the central posterior cornea and aphakia. Microscopically, central corneal thickening and a defect in the endothelium and Descemet's membrane were observed. These data suggest that this represents a case of unilateral anterior segment dysgenesis consistent with congenital corneal staphyloma with Peters' anomaly and aphakia. Neither a mutation of the WFDC1 gene in multiple ocular defects nor any other identifiable cause for ocular anomalies was detected.

Visual outcome and changes in corneal endothelial cell density following aphakic iris-fixated intraocular lens implantation in pediatric eyes with subluxated lenses.

PURPOSE: To evaluate the visual outcome and corneal endothelial cell density after Artisan aphakic intraocular lens (IOL) implantation (Ophtec, Groningen, the Netherlands) in pediatric eyes with subluxated lenses. METHODS: Artisan aphakic IOLs were implanted in 18 eyes of 11 children with subluxated lenses. Idiopathic subluxations and ectopia lentis due to Marfan syndrome were included, whereas subluxations due to trauma or buphthalmos were excluded. Best-corrected visual acuity (BCVA) and endothelial cell density were monitored. Mean postoperative BCVA and endothelial cell density at last follow-up visit were calculated. RESULTS: The age of children at the time of Artisan aphakic IOL implantation ranged from 8 to 16 years (mean: 11.58 ± 2.9 years). Mean follow-up was 9.12 ± 4.30 months. Mean postoperative logarithm of the minimum angle of resolution BCVA was 0.26 ± 0.13 (P = .001) and mean postoperative endothelial cell density was 2,860 ± 435 cells/mm(2) (P = .000). Mean endothelial cell loss was 17.1%. CONCLUSION: Artisan aphakic IOL implantation is a safe surgical choice in the management of ectopia lentis in the pediatric age group. It has minimal complications and is less traumatic to pediatric eyes. However, long-term follow-up of these children is required.[J Pediatr Ophthalmol Strabismus 2013;50(3):178-182.].

Stem cell grafting improves both motor and cognitive impairments in a genetic model of Parkinson's disease, the aphakia (ak) mouse.

Stem cell-based cell replacement of lost midbrain dopamine (mDA) neurons is a potential therapy for Parkinson's disease (PD). Toward this goal, it is critical to optimize various aspects of cell transplantation and to assess functional recovery through behavioral tests in validated animal model(s) of PD. At present, cell transplantation studies are being done almost exclusively in neurotoxin-based animal models, because few genetic models of PD exhibit robust mDA neuronal loss. Here we used a genetic model of PD, the aphakia mouse, which demonstrates selective degeneration of mDA neurons in the substantia nigra. We systematically investigated the functional effects of transplanting embryonic stem cell-derived cells at different stages of in vitro differentiation: embryoid body (EB), neural progenitor (NP), and neuronal differentiated (ND) stages. We found that transplantation of NP cells yielded the best outcomes for both survival and behavioral improvement, while transplantation of EB and ND cells resulted in high teratoma-like tumor formation and poor survival, respectively. In behavioral paradigms specific to basal ganglia, the NP cells group prominently improved motor behavioral defects 1 and 2 months posttransplantation. Furthermore, we found that NP cell transplantation also improved cognitive impairments of aphakia mice, as examined by the passive avoidance task. Importantly, these graft-induced functional improvements well correlated with survival of tyrosine hydroxylase-positive DA neurons. Taken together, we propose that the aphakia mouse can serve as a novel and useful platform for cell transplantation studies to assess both neurological and cognitive improvements and that NP stage cells represent an optimal stage for transplantation.

Bilateral microphthalmia and aphakia associated with multiple eye abnormalities in a free-living European red deer calf (Cervus elaphus).

A free-living European red deer calf (Cervus elaphus) was euthanized due to bilateral microphthalmia. Lens was missing, replaced by proliferating squamous epithelial cells; hyperplastic squamous cells, sebaceous and mucinous glands were observed within the cornea with the characteristics of inclusion cyst. Findings were consistent with congenital microphthalmia/aphakia, with multiple eye abnormalities.

Intraocular architecture of secondary implanted anterior chamber iris-claw lenses in aphakic eyes evaluated with anterior segment optical coherence tomography.

AIM: To evaluate the intraocular stability and safety of secondary iris-claw intraocular lenses (IOLs) in aphakic patients. METHODS: Eighteen eyes of 16 patients received iris-claw IOLs to correct for aphakia. Primary outcome measurements included visual acuity (6 m Snellen charts), central endothelium cell count (ECC) and intraocular position of the IOL assessed with anterior segment optical coherence tomography (OCT). RESULTS: Sixteen patients (mean age 66 (range 16-84) years; axial length 24.44 mm) were re-examined 22 months postoperatively (range 12-38 months). Preoperative decimal best corrected visual acuity (BCVA) was 0.51, intraocular pressure (IOP) 15.3 mmHg and central ECC 1816 per mm(2). Postoperative BCVA was 0.68, IOP 13.1 mmHg and central ECC 1626 per mm(2) (difference over time 176 per mm(2) = 10.5%, p>0.05). The anterior chamber depth was 4 mm for the eyes with axial length <24 mm, and 4.34 mm for those > or =24 mm. CONCLUSION: Secondary anterior iris-claw IOLs appears to be a safe choice to correct aphakia with no significant intermediate postoperative central endothelium cell loss, especially in eyes with axial length > or =24 mm, as distances from the IOL to the central and peripheral cornea proved to be consistent.

Detection of neuronal loss using T(1rho) MRI assessment of (1)H(2)O spin dynamics in the aphakia mouse.

The loss of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc) is well characterized in Parkinson's disease (PD). Recent developments in magnetic resonance imaging (MRI) techniques have provided the opportunity to evaluate for changes in cellular density. Longitudinal relaxation measurements in the rotating frame (T(1rho)) provide a unique magnetic resonance imaging contrast in vivo. Due to the specificity of T(1rho) to water-protein interactions, the T(1rho) MRI method has strong potential to be used as a non-invasive method for quantification of neuronal density in the brain. Recently introduced adiabatic T(1rho) magnetic resonance imaging mapping methods provide a tool to assess molecular motional regimes with high sensitivity due to utilization of an effective magnetic field sweep during adiabatic pulses. In this work, to investigate the sensitivity of T(1rho) to alterations in neuronal density, adiabatic T(1rho) MRI measurements were employed in vivo on Pitx3-homeobox gene-deficient aphakia mice in which the deficit of DA neurons in the SNc is well established. The theoretical analysis of T(1rho) maps in the different areas of the brain of aphakia mouse suggested variation of the (1)H(2)O rotational correlation times, tau(c). This suggests tau(c) to be a sensitive indicator for neuronal loss during neurological disorders. The results manifest significant dependencies of the T(1rho) relaxations on the cell densities in the SNc, suggesting T(1rho) MRI method as a candidate for detection of neuronal loss in neurological disorders.

Ciliary body position variability in glaucoma patients assessed by scleral transillumination.

AIM: To quantify ciliary body position variability in glaucoma patients in order to determine if scleral transillumination should be used routinely to guide contact probe placement during cyclodestructive procedures. METHOD: This was a prospective experimental study with human subjects. One hundred consecutive glaucoma patients attending a glaucoma clinic were recruited between June and November 2006. A fibre optic light source was used to identify ciliary body position by transscleral transillumination. The distance between the ciliary body and corneoscleral limbus was measured in the superior, temporal, inferior, and nasal quadrants of both eyes using surgical callipers. RESULTS: The anterior boundary of the ciliary body was located 1.5-5 mm posterior to the corneoscleral limbus. The ciliary body was located significantly more posteriorly in the superior and inferior quadrants compared to the nasal and temporal quadrants. (P<0.001). Ciliary body position was significantly correlated with the mean sphere of the refractive error in phakic patients (r(2)=0.052; P=0.047). The ciliary body tended to be located most posteriorly in myopic eyes. CONCLUSIONS: The distance between the corneoscleral limbus and the ciliary body as identified by transillumination varies significantly in different quadrants of the eye. Considerable variability was also observed between different patients with glaucoma. Ciliary body transillumination on patients undergoing cyclodestructive procedures may have implications for optimal probe placement and therapeutic outcome.

Implantation of the Artisan iris reconstruction intraocular lens in 5 children with aphakia and partial aniridia caused by perforating ocular trauma.

PURPOSE: To describe the long-term clinical results of the implantation of the Artisan iris reconstruction IOL in 5 eyes of 5 children for aphakia and partial aniridia attributable to penetrating ocular trauma. METHODS: The charts of 5 children were retrospectively reviewed. The nature and the extent of injury; age at IOL implantation; visual, refractive, and cosmetic outcome; endothelial cell density; and complications and subsequent surgical interventions were evaluated. RESULTS: Mean follow-up period was 8.9 years (range, 4.9-12.4). Mean age at implantation of the Artisan iris reconstruction IOL was 9.5 years (range, 7.7-12.7). Visual acuity improved in 2 of 5 eyes, remained stable in 2 of 5 eyes, and decreased in 1 of 5 eyes. Complaints of photophobia were reduced, and a satisfactory cosmetic outcome was achieved in 3 of 5 patients. The mean spherical equivalent refraction error at last follow-up was -4.0 D. Mean endothelial cell loss when compared with the healthy fellow eye was 42%. Two cases were complicated by partial luxation of the IOL, one case by persistent anterior uveitis and secondary glaucoma. One eye developed a retinal detachment. CONCLUSIONS: The Artisan iris reconstruction IOL is a treatment option for the treatment of aniridia and aphakia due to penetrating ocular trauma in children. We emphasize the high-risk characteristics of the eyes treated and the importance of careful patient selection in the outcome of the implantation of the Artisan iris reconstruction IOL.

Phenotypic segregation of aphakia and Pitx3-null mutants reveals that Pitx3 deficiency increases consolidation of specific movement components.

Deficiency of the meso-diencephalic dopamine (mdDA) neuron specific transcription factor Pitx3 in aphakia (ak) mice results in the loss of the substantia nigra compacta (SNc). Concomitantly, reduced spontaneous locomotor behavior, symptoms reminiscent to those in Parkinson's disease, has been reported. However, the ak mouse line originates from the 1960s and has been compared to C57BL/6J inbred controls. Therefore, to define Pitx3 gene function in baseline and novelty-induced locomotor behavior and mdDA neuronal activity, we analyzed Pitx3-deficiency in a controlled genetic and epigenetic background. The analysis implicated that, in contrast to the controversial and previously reported hypo-activity in ak mice, Pitx3-/- mice showed normal dark phase motor activity levels. Our data also revealed that ak and Pitx3-/- mice both display a similar neuro-anatomical and physiological phenotype, and, interestingly, showed increased spontaneous home cage activity levels during their habitual sleep phase. Further behavioral analysis revealed that both ak and Pitx3-/- mice have reduced transitions but increased consolidation of specific locomotor behaviors, such as rearing and horizontal movement. Thus, Pitx3 is not involved in the expression of nighttime motor activity levels, but is critical for selective mdDA neuronal activity and associated with increased consolidation of movement.

[Changes of corneal endothelium morphology and thickness after secondary intraocular lens implantation of traumatic aphakia].

PURPOSE: To find out changes of corneal endothelium morphology and corneal thickness after secondary intraocular lens implantation of traumatic aphakia. METHODS: Twenty-one patients with traumatic aphakia were included in this study. According to the ocular presentation only two surgical methods were performed: secondary PMMA lens implantation through superior corneoscleral incision and transscleral fixation of PMMA intraocular lens with intraocular infusion. Photographs were taken at 5 points area of cornea, including central, superior, inferior, temporal, and nasal points. Endothelial density, area, variation and corneal thickness were measured before and after the operation. The changes of corneal endothelium and thickness after the operation were analysed. Factors that induced the changes were also discussed. RESULTS: (1) Twenty-one patients were included in this study. Eleven patients underwent the operation of PMMA lens implantation through superior corneoscleral incision, while ten patients underwent the operation of transscleral fixation of PMMA intraocular lens with intraocular infusion. The hexagonally of corneal endothelium decreased and cell variation increased in the superior cornea after the operation, but they both did not change in other places of cornea. The corneal thickness of patients without intraocular infusion and transscleral fixation did not change after the operation. But the corneal thickness of each corneal point of patients without intraocular infusion and transscleral increased equally after the operation. CONCLUSIONS: Corneal swelling occurred in patients undergoing transscleral fixation of PMMA intraocular lens with intraocular infusion. Intraocular infusion will temporally influence the function of corneal endothelium, which induces corneal swelling. Corneal endothelium is damaged mainly by surgical manipulation.

Small-incision iris fixation of foldable intraocular lenses in the absence of capsule support.

PURPOSE: To report visual outcomes and complications of modified McCannel iris suture fixation of small-incision foldable acrylic intraocular lenses (IOLs) for aphakia in the absence of capsule support. DESIGN: Retrospective interventional case series. PARTICIPANTS: Forty-six patients who underwent foldable acrylic IOL implantation using peripheral iris suture fixation for aphakia in the absence of capsule support. METHODS: Data from 46 patients who underwent iris fixation of a foldable acrylic IOL were retrospectively evaluated for underlying diagnoses, surgical history, clinical results, and complications. MAIN OUTCOME MEASURES: Postoperative best-corrected visual acuity (BCVA), spherical equivalent, and surgical complications. RESULTS: Best-corrected visual acuity improved from 20/100 to 20/50 (P = 0.01), with 97% of eyes maintaining or improving BCVA after a mean (+/- standard deviation) follow-up of 24.1+/-12.4 months. Complications included transient low-grade uveitis (3 [6.5%]), transient pigment dispersion (3 [6.5%]), IOL dislocation (2 [4.3%]), elevated intraocular pressure (1 [2.2%]), and retinal detachment (1 [2.2%]). No new cases of cystoid macular edema or worsening of glaucoma occurred. CONCLUSION: Small-incision peripheral iris fixation of 3-piece acrylic foldable IOLs in the absence of capsule support appears to be an effective technique with few severe adverse events.

[Aphakia in a German Holstein calf]. / Aphakie bei einem Kalb der Rasse Deutsche Holsteins.

Aphakia and further malformations of both eyes were diagnosed in a female German Holstein calf. Besides aphakia of the left eye, the calf exhibited microphthalmia, glaucoma and a hypoplastic uveoscleral tissue. Additional findings in the right eye were buphthalmus and glaucoma. Instead of aphakia, pathohistological and investigations revealed a very small (microphakia) and luxated lens. Neither the clinical nor the pathological examination revealed further malformations of other organs. A BVD infection could be excluded as cause for the ocular malformations observed. A deficiency or excess of vitamine A was unlikely because this would have also applied to all other calves born at the same time on the farm. An inbreeding coefficient of 3.168% for the malformed calf and the exclusion of environmental causes for these malformations of the eyes let us suppose a hereditary problem.

Retinoscopic (refractive) estimation of axial length in paediatric aphakia: a comparison with ultrasonic measurement.

AIM: To compare paediatric axial length values estimated from the aphakic refraction alone with axial length values measured by ultrasound. METHODS: Retrospective institutional medical record review of paediatric aphakic patients 12 years of age and younger with documented ultrasonic axial length and objective refraction (retinoscopy) within 3 months of each other. An estimate of axial length was made from the aphakic refraction alone (with an assumed average keratometry value of 44 dioptres) for all patients. RESULTS: 149 eyes of 102 paediatric aphakic patients were identified. The ultrasonic axial length values (mean 22.47 mm, SD 1.69, 95% confidence interval (CI) 0.27) and estimated axial length values (mean 22.41 mm, SD 1.53, 95% CI 0.25) had an average difference of 0.05 mm (SD 1.04, 95% CI 0.17) and were not significantly different (p = 0.56) by the two tailed paired t test. A histogram of the differences that did exist between the two values resembled a normal distribution. The nine eyes with the largest differences between the two values had either low hyperopic aphakic refractions or abnormal average keratometry values. CONCLUSIONS: There was no significant difference between the two groups of axial length values, and the distribution of differences that did exist seemed random. The greatest differences between the two values occurred in longer (less hyperopic) eyes and in eyes with abnormally steep or flat keratometry. Estimation of axial length from the aphakic refraction alone seems to be a useful technique in the average paediatric eye, especially if biometry is unavailable.

Striatal neuroadaptation and rescue of locomotor deficit by L-dopa in aphakia mice, a model of Parkinson's disease.

Preferential neurodegeneration of dopaminergic neurons in the ventral substantia nigra of the midbrain is a hallmark of Parkinson's disease. The homeobox transcription factor Pitx3 is similarly and selectively expressed in the same neurons. Pitx3 deficiency in a natural mouse mutant, the aphakia mouse, was correlated with the loss of these neurons and with a deficit in locomotor activity. We now report that the locomotor deficit of aphakia mice is established by 40 days of age and that it can be rescued by injection of l-dopa. We further show that downstream striatal correlates of the midbrain neuronal losses in aphakia mice, as assessed by dopamine transporter binding and expression of dopamine receptors, enkephalin, dynorphin and neurotensin, are highly similar to neuroadaptive responses observed following rapid neurodegeneration induced by neurotoxin administration in adult animals or following the progressive neurodegenerative processes as seen in Parkinson patients. Taken collectively, these data support the idea that the aphakia mice represent a selective model of dopaminergic deficiency that closely resembles the midbrain and striatal neuropathology associated with Parkinson's disease, and this suggests that these mice are a good model to assess therapies for Parkinson's disease as well as to understand the susceptibility of these neurons to neurodegeneration.

Congenital corneal staphyloma associated with aphakia.

A neonate had a globular mass bulging through the eyelids of the left eye. Computed tomography revealed a large ectatic corneal lesion and the absence of a lens. The enucleated globe revealed that the posterior surface of the ectatic cornea was lined by iris tissue, indicating corneal staphyloma.