Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity

Mutations in the GBA1 gene encoding glucocerebrosidase (GCase) are linked to Gaucher (GD) and Parkinson’s Disease (PD). Since some GD and PD patients develop ocular phenotypes, we determined whether ocular phenotypes might result from impaired GCase activity and the corresponding accumulation of glucosylceramide (GluCer) and glucosylsphingosine (GluSph) in the Gba1D409V/D409V knock-in (Gba KI/KI; “KI”) mouse. Gba KI mice developed age-dependent pupil dilation deficits to an anti-muscarinic agent; histologically, the iris covered the anterior part of the lens with adhesions between the iris and the anterior surface of the lens (posterior synechia). This may prevent pupil dilation in general, beyond an un-responsiveness of the iris to anti-muscarinics. Gba KI mice displayed atrophy and pigment dispersion of the iris, and occlusion of the iridocorneal angle by pigment-laden cells, reminiscent of secondary open angle glaucoma. Gba KI mice showed progressive thinning of the retina consistent with retinal degeneration. GluSph levels were increased in the anterior and posterior segments of the eye, suggesting that accumulation of lipids in the eye may contribute to degeneration in this compartment. We conclude that the Gba KI model provides robust and reproducible eye phenotypes which may be used to test for efficacy and establish biomarkers for GBA1-related therapies.

Fuchs Heterochromic Iridocyclitis: Clinic, Diagnosis, and Treatment

Fuchs heterochromic iridocyclitis (FHI) is a mild grade, chronic, non-granulomatous uveitis. Due to the asymptomatic course and variation of clinical findings, FHI is the uveitis with the highest number of late and wrong diagnosis. Decreased visual acuity due to floaters and cataracts are the most frequent complaints at presentation. It has characteristic features like unilateral involvement, diffuse, small stellate keratic precipitates, iris atrophy leading to heterochromia, abnormal angle vessels, and lack of posterior synechia or macular edema. Etiology is still uncertain however acquired rubella infection is the most approved. Visual prognosis is excellent in FHI. Cataract and glaucoma are among the major complications leading to visual loss. For the treatment, steroids might be used for the short term. Unnecessary long term use of steroids increases the risk for cataract and glaucoma

Outcome and Complications of Combined Phacoemulsification and 23-Gauge Pars Plana Vitrectomy

Background. With the advances in surgical tools, simultaneous removal of cataract associated with vitreoretinal disorders is gaining popularity. This combined surgery offers several advantages besides limitations. The aim of this study is to assess the outcome and complications of phacoemulsification combined with pars plana vitrectomy (PPV). Patients and Methods. In this retrospective review, medical charts of patients undergoing phacovitrectomy for coexisting cataract and various vitreoretinal disorders were analyzed. Patient demographics, retinal diagnosis, visual acuities (VA) in logMAR, intraocular pressure (IOP), intraoperative and postoperative complications were assessed. Clear corneal phacoemulsification and 23-gauge transconjunctival PPV were administered in all cases. Results. Eighty-four eyes of 64 (76.2%) males and 20 (23.8%) females were enrolled. The average age of patients was 59.5 ± 13.8 (18–81). The average period of follow-up was 7.2 ± 7.5 months (1–36). The vitreoretinal diagnoses were as follows: 28 (33.3%) rhegmatogenous retinal detachment, 23 (27.4%) vitreous hemorrhage, 12 (14.3%) intraocular foreign body, 12 (14.3%) epiretinal membrane, 4 (4.8%) macular hole, 4 (4.8%) tractional retinal detachment, and 1 (1.2%) vitreomacular traction. The most common intraoperative complications were miosis and rupture of the posterior capsule (92.9% and 8.3%, respectively). In 8 (9.5%) cases, there was fibrin in the anterior chamber. Posterior synechia developed in 7 (8.3%) of cases. No severe increase in intraocular pressure was evident. Conclusion. Phacoemulsification combined with PPV is a safe and efficient way of management in cases where cataract coexists with vitreoretinal pathologies.

Complete reconstruction of anterior segment surgery for a patient with traumatic cataract and iris defects: a case report

Background: Ocular trauma has relationship with variable damage towards anterior segment or posterior segment. Among them, cornea, iris and lens are vulnerable to injury. For patients with traumatic cataract and other anterior segment trauma， complete reconstruction of anterior segment surgery can be a good option to restore patients’ anterior segment that helps them regain their vision. Case presentation: We presented a case of traumatic cataract with iris defects after explosive trauma. A surgery was done to fully reconstruct the anterior segment of the patient’s left eye including separating posterior synechia of iris, removing cataract and implantation of IOL. Postoperatively, the patient didn’t complain about photophobia anymore and the uncorrected visual acuity (UCVA) of the patient reached from counting fingers to 20/25 and remained stable on follow-up at 1 week and 1 month. Conclusion: Our case suggested the importance of completely reconstruct anterior segment for patients who have traumatic cataract with traumatic iris defects and its benefits for society. Keywords: Traumatic cataract; Traumatic iris defect; Surgery

Encephalitozoon cuniculi causes focal anterior cataract and uveitis in dogs

SummaryThree mongrel dogs, aged 10 months (case 1), 14 months (case 2) and 7.5 years (case 3), were presented because of ophthalmologic disorders of 4 months, 6 months and 7 years duration, respectively. All three dogs were offspring of stray dogs from Hungary and Serbia and had positive serum antibody titres against Encephalitozoon (E.) cuniculi. The two young dogs showed unilateral, the older dog bilateral chronic anterior uveitis with posterior synechia and focal anterior cortical cataract. The fundi that could be evaluated developed focal tapetal hyporeflective lesions in the course of the disease. Dogs 1 and 2 underwent removal of the lens via phacoemulsification. PCR of the lens material was positive for E. cuniculi strains IV and II, respectively. In dog 2 findings suggestive of microsporidia were detected underneath the anterior lens capsule by immunohistochemical staining. In all cases medical treatment consisted of systemic fenbendazole, prednisolone, and topical anti-inflammatory drugs, and additional brinzolamid/timolol for dog 3. For the time being all cases (follow up 23 months, 6 months and 3 months, respectively) are still on topical anti-inflammatory therapy. It is concluded that E. cuniculi infections can cause cataract and chorioretinal lesions in dogs.

Uveitis in sarcoidosis

This case report demonstrates signs of uveitis and difficulties of the differential diagnosis of sarcoidosis as the cause of uveitis. A 57-year-old woman, who had visual loss in her both eyes, developed bilateral panuveitis: bilateral precipitates on the cornea with posterior synechia and infiltrates in the vitreous, and multifocal, peripheral retinochoroiditis. Chest X-ray revealed an infiltrate and numerous smaller granulomas in both lungs. The presumptive diagnosis was tuberculosis, however, biopsy of the pulmonal lesion showed sarcoidosis. Pulmonary and ophthalmologic findings rapidly disappeared with corticosteroid therapy. The author concludes that sarcoidosis may present with different signs of uveitis. Histopathology is of great importance for the differentiation between sarcoidosis and tuberculosis, which is very important for the therapy. Orv. Hetil., 154(45), 1798–1801.

Enterococcus faecalisEndogenous Endophthalmitis from Valvular Endocarditis

We report a case of a 74-year-old female, with a mitral heart valve, who presented with pain and blurred vision in the right eye for 2 days. Her visual acuity was light perception (LP) in the right eye and 20/40 in the left eye. Slit lamp examination showed corneal edema and hypopyon, and a view of the right fundus was impossible. Echography showed vitreous condensation. One day after presentation, the patient developed acute lung edema requiring hospitalization, so she was not submitted to vitreous tap and intravitreal treatment. The cardiac and systemic evaluations revealed a mitral endocarditis secondary toEnterococcus faecalis. The patient improved systemically with treatment with gentamicin, vancomycin, and linezolid. Her visual acuity remained as no LP, and her intraocular pressure (IOP) has been controlled with brimonidine bid despite developing a total cataract with 360° posterior synechia. A cardiac source for endogenous endophthalmitis should be considered in the presence of a prosthetic cardiac valve. The treatment and followup must be made in cooperation with a cardiologist specialist, but the ophthalmologist can play a key role in the diagnosis.

Visual Outcome in Ocular Sarcoidosis: Retrospective Evaluation of Risk Factors

Purpose. To analyze risk factors associated with poor visual outcome in patients with ocular sarcoidosis. Methods. In this retrospective study, charts of 44 patients with uveitis and biopsy-proven sarcoidosis were reviewed. Ocular parameters evaluated were as follows: location, type of uveitis, visual acuity, presence of posterior synechia, iris nodules, vitritis, snowballs, chorioretinal lesions, retinal vasculitis, papillitis, macular edema, cataract, and glaucoma. Final visual acuity of the worst-seeing eye at last follow-up was the outcome considered in univariable and multivariable analyses. Visual acuity of the worst-seeing eye was stratified into 2 categories according to the threshold 20/50 (≤20/50 and >20/50). Results. A total of 44 patients with bilateral uveitis were studied. The majority of patients presented with panuveitis (52%), granulomatous type (61%), posterior synechia (62%). The most frequent vision-threatening complications were cystoid macular edema (56%) and cataract (56%). The median best-corrected visual acuity in the worst-seeing eye at presentation and at end of follow-up was respectively 0.4 (interquartile range [IQR] 0.26–0.80) and 0.63 (IQR 0.36–1.00). At univariable analysis, the presence of iris nodules (p=0.049), cystoid macular edema (p=0.007), and cataract (p=0.007) were clinically significant conditions for a visual outcome of 20/50 or worse in the worst-seeing eye. In multivariable analysis, cystoid macular edema (p=0.034) was the only statistically significant predictor associated with unfavorable visual outcome. Conclusions. In this study, we attempted to find risk factors related to poor visual outcome in patients with ocular sarcoidosis. The results suggest that only the presence of cystoid macular edema was significantly associated with worst visual outcome.