Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series.

BACKGROUND: Oculofaciocardiodental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems, being an X-linked condition caused by pathogenic variants in the BCL-6 corepressor gene (BCOR). We report a case series of three female patients with OFCD syndrome with severe glaucoma. RESULTS: Three female patients with OFCD syndrome with different variants involving BCOR gene, in heterozygosity: a seven-years-old girl with an insertion (c.2037_2038dupCT), a nine years-old girl with a microdeletion in the X (p21.2-p11.4)) spanning the BCOR gene; and a 25 years-old female with a deletion (c.3858_3859del). Systemic involvement is variable among patients ranging from one patient mainly with ocular and dental involvement to one with associated intra-auricular and intra-ventricular defects. All the patients presented with congenital cataracts diagnosed in the first days of life. Cataract surgery was performed without incidents between 6 and 16 weeks of age in all the patients. Postoperatively, the three patients developed ocular hypertension and glaucoma with the need for surgical interventions, including trabeculectomy, Ahmed valve implantation, and cyclophotocoagulation. CONCLUSION: OFCD syndrome characterizes by a severe ocular involvement with glaucoma as a characteristic feature. Ocular hypertension after cataract surgery in these patients is challenging, almost always needing surgery during childhood. Therefore, we consider BCOR disruption may predispose to a higher incidence of glaucoma due to its aggressiveness and early onset on our case series. The awareness of these complications is crucial to an adequate follow-up of the patients.

Implementing ICHOM standard set for cataract surgery at IPO-Porto (Portugal): clinical outcomes, quality of life and costs.

BACKGROUND: This paper fills a gap in the applied research field, for a local context, by addressing the topics of describing cataract surgery' clinical outcomes; quality of life (QoL); and costs of the patients treated after the implementation of the ICHOM standard set. METHODS: This is a retrospective observational study using real-world data (RWD). We included all patients subjected to cataract surgery at the Portuguese Institute of oncology - Porto (IPO-Porto), Portugal, after 3 months follow up period completed between 5th June 2017 and 21st May 2018. The following inclusion criteria: corrected visual acuity of ≤ 6/10 or other significant visual disturbance due to lens opacity or the existence of a large anisometropia. A circuit was implemented based on the ICHOM standard for cataract, to measure clinical variables (e.g. visual acuity) and QoL (CATQUEST-9SF) before and after surgery, and cost of treatment. The results were explored by means of a paired-sample t-test, considering normality assumptions. RESULTS: Data refers to 268 patients (73 P25-P75:32-95 years old), regarding 374 eyes. The cataract surgery had a positive effect on visual acuity (p < 0.001), refraction (right and left cylinder; p < 0.001) and all QoL dimensions. The vast majority of patients, around 98%, reported improvements in QoL. Based on IPO-Porto administrative records, the direct cost of treating cataracts (per eye) is of 500€, representing a total cost of 187,000€ for the number of patients operated herein. CONCLUSION: This study reports the successful implementation of the ICHOM standard set for cataracts in a Portuguese institution and confirms that cataract surgery provides a rapid visual recovery, with excellent visual outcomes and minimal complications in most patients, while also having a positive impact on patients' quality of life.

Bilateral Angle Narrowing and Acute Myopia Induced by Indapamide: A Case Report.

PURPOSE: To describe a clinical case of indapamide induced bilateral angle narrowing and acute myopia. MATERIALS AND METHODS: Clinical case report. RESULTS: A 37-year-old Caucasian emmetropic man presented to the Emergency Department with complaints of acute-onset bilateral blurry vision, nine days after starting treatment for arterial hypertension with a combination of indapamide and amlodipine. Clinical examination revealed the presence of myopia and appositional closure of the anterior chamber angle. Ultrasound biomicroscopy and mode B ultrasonography disclosed bilateral ciliochoroidal effusion with anterior rotation of the ciliary body and iridocorneal angle narrowing. After intraocular pressure control with brimonidine and timolol, and replacement of indapamide/amlodipine by amlodipine only, the patient was discharged. Complete resolution of the clinical manifestations was observed after three weeks, with no sequelae. CONCLUSIONS: Indapamide may cause acute myopia and angle closure secondary to ciliochoroidal effusion that are fully reversible after drug withdrawal, as long as timely diagnosis is established. Therefore, indapamide, as well as other sulfonamide-derived drugs, must always be considered in the differential diagnosis of acute myopia and angle closure.

Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers.

Familial lecithin-cholesterol acyltransferase deficiency (FLD) is a rare recessive disorder of cholesterol metabolism, caused by loss-of-function mutations in the human LCAT gene, leading to alterations in the lipid/lipoprotein profile, with extremely low HDL levels.The classical FLD phenotype is characterized by diffuse corneal opacification, haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the corneas, has been reported in a few families worldwide.We describe an intermediate phenotype of LCAT deficiency, with CKD preceding the development of corneal clouding, in two Portuguese brothers apparently homozygous for a novel missense LCAT gene mutation. The atypical phenotype, the diagnosis of membranous nephropathy in the proband's native kidney biopsy, the late-onset and delayed recognition of the corneal opacification, the co-segregation with Gilbert syndrome and the late recurrence of the primary disease in kidney allograft all contributed to obscure the diagnosis of an LCAT deficiency syndrome for many years.A major teaching point is that on standard light microscopy examination the kidney biopsies of patients with LCAT deficiency with residual enzyme activity may not show significant vacuolization and may be misdiagnosed as membranous nephropathy. The cases of these two patients also illustrate the importance of performing detailed physical examination in young adults presenting with proteinuric CKD, as the most important clue to the diagnosis of FLD is in the eyes.

Spectral Domain-Optical Coherence Tomography As a New Diagnostic Marker for Idiopathic Normal Pressure Hydrocephalus.

PURPOSE: Characterized by a progressive onset of gait disturbances, dementia, and urinary incontinence, idiopathic normal pressure hydrocephalus (iNPH) is considered a rare, but under-diagnosed disease. Non-invasive diagnostic markers are still insufficient to enable the diagnosis of iNPH with certainty and yet early treatment with ventriculoperitoneal (VP) shunting can reverse symptoms and stop disease progression. Vascular circulation abnormalities in iNPH may be reflected by changes in subfoveal and peripapillary choroidal thickness (PPChT). This study uses spectral domain-optical coherence tomography (SD-OCT)-based measures of retinal and choroidal thickness to test this hypothesis and to assess ophthalmological non-invasive markers for iNPH. METHODS: Twelve patients who displayed neurological and neuroradiological characteristics of iNPH were subject to a full ophthalmological examination including enhanced depth imaging (EDI) SD-OCT. Of the 12 included iNPH patients, 6 had undergone VP shunting with beneficial outcome. Parameters studied with EDI SD-OCT were macular retinal thickness (MT), subfoveal choroidal thickness (SFChT), retinal nerve fiber layer thickness (RNFL), and PPChT. Results were compared with 13 healthy, age-matched controls. RESULTS: Macular thickness and RNFL and MT values of iNPH patients did not reflect atrophy. Non-shunted iNPH patients showed significantly lowered median PPChT and SFChT values compared to healthy controls. Shunted iNPH patients displayed a significantly higher median PPChT and SFChT compared to non-shunted iNPH patients. SFChT and PPChT values in shunted patients were not significantly different to values in healthy controls. CONCLUSION: Although limited by small sample size, SD-OCT measures in this study reveal significant changes of choroidal thickness and support the hypothesis of choroidal susceptibility to hemodynamic alterations in iNPH. Non-shunted iNPH patients in this study show choroidal thinning in combination with normal RNFL and MT values. In addition to neurological and neuroradiological exams, this pattern may aid in the challenging diagnosis of iNPH.

Pseudoexfoliation material on posterior chamber intraocular lenses.

The presence of pseudoexfoliation material on the surface of an intraocular lens (IOL) is a rare finding. We report a series of seven cases with different patterns of pseudoexfoliation material deposition on the posterior chamber IOLs, recognized 2-20 years after cataract surgery. Six patients had an IOL implanted in the capsular bag and one in the ciliary sulcus. Two patients had undergone posterior capsulotomy. Although the pathophysiological mechanisms and clinical significance of this finding remain unknown, the careful follow-up of pseudophakic patients with known or suspected pseudoexfoliation syndrome is essential to monitor the development or progression of glaucoma, since deposition of pseudoexfoliation material continues even after cataract surgery.

Severe ocular hypertension secondary to systemic corticosteroid treatment in a child with nephrotic syndrome.

PURPOSE: To report a case of severe, acute ocular hypertension in a 6-year-old child, 7 days after initiating treatment with oral prednisolone, due to nephrotic syndrome. METHODS: A 6-year-old female Caucasian child was diagnosed with nephrotic syndrome and treated with oral prednisolone (60 mg/day). Seven days later the child initiated complaints of headache, vomiting, ocular pain, and photophobia. Ophthalmologic examination revealed a severely increased intraocular pressure (IOP) of 52 mmHg in the right eye and 56 mmHg in the left eye. Anterior segment morphology was evaluated with ultrasound biomicroscopy. Optic disc status was evaluated by disc photography, kinetic perimetry, and optical coherence tomography. RESULTS: Treatment was initiated with latanoprost, brimonidine, and the fixed association of timolol and dorzolamide. At each follow-up examination, progressively better control of IOP was obtained. Simultaneous with corticosteroid dosage decrease we were able to reduce antiglaucomatous medication while maintaining IOP under control. Ultrasound biomicroscopy revealed an open angle with normal anterior segment echographic findings. Perimetric evaluation revealed normal visual fields in both eyes. Four months after presentation, steroid treatment had been completed and IOP was 10 mmHg in both eyes without any antiglaucomatous medication. Optical coherence tomography revealed normal retinal nerve fiber layer thickness in all peripapillary sectors. CONCLUSIONS: Systemic steroid treatment can cause a severe, acute increase in IOP in children. Children undergoing steroid treatment should have routine ophthalmologic examinations during treatment duration. Prompt antiglaucomatous treatment prevents retinal nerve fiber layer damage and visual acuity loss.

Efficacy and tolerability of topical 0.05% flunarizine in patients with open-angle glaucoma or ocular hypertension-a pilot study.

AIM: To evaluate the efficacy and tolerability of flunarizine, a nonselective calcium channel blocker, on intraocular pressure (IOP) in patients with open-angle glaucoma (OAG) or ocular hypertension (OH). DESIGN: Randomized, placebo-controlled, double blind, cross-over phase II trial. METHODS: Ten patients diagnosed with bilateral OAG or OH were included. Each patient served as his own control. On the first study visit, 1 drop of either 0.05% flunarizine or placebo was applied in the study eye. Patients were followed-up during 6 hours (0, 15, 30, and 60 min, 2, 3, 4, and 6 h) for vital signs, slit lamp examination, corneal fluorescein staining, and IOP. After a wash-out period of 4 weeks, 1 drop of either placebo or flunarizine was applied in the same eye and patients were followed-up for another 6 hours. RESULTS: The flunarizine group showed a statistically significant decrease from baseline at T2, T3, T4, and T6 hours (P=0.01, P=0.03, P=0.01, and P=0.03, respectively). No significant difference in IOP decrease from baseline (P>0.06) was observed between the 2 groups. There was no statistically significant difference in all of the following parameters: limbal hyperemia, bulbar or palpebral conjunctival hyperemia, corneal staining with fluorescein, best-corrected visual acuity, comfort of eye drops, and vital signs. CONCLUSIONS: The absence of a statistically significant difference in IOP reduction between the 2 groups may be due to the small number of patients included. However, a single dose of 0.05% flunarizine significantly reduced IOP when compared with baseline values, whereas this was not observed with placebo.