Isolated retinal astrocytic hamartoma with 7-year follow-up: A case report.

RATIONALE: Retinal astrocytic hamartoma (RAH) is a rare benign tumor originating from astrocytic cells located in the neural cell layer of the retina. It is commonly seen in patients with phakomatoses such as tuberous sclerosis complex or neurofibromatosis, rarely as an isolated retinal mass. This lesion is usually asymptomatic; however, these located in the area of the optic nerve, macula, or exhibiting the features of exudation, neovascularization may present visual disturbances and decreased visual acuity. PATIENT CONCERNS: We present a rare case of a 15-year-old boy, with no significant past medical history, whose cause of visual disturbances turned out to be isolated RAH. DIAGNOSES: Based on the results of color images of the fundus, fluorescein angiography as well as the analysis of magnetic resonance imaging, the patient was diagnosed with RAH. INTERVENTIONS: Additionally an B-scan ultrasonography, static and kinetic perimetry were performed. OUTCOMES: Fundoscopic examination showed a unilateral yellowish, well-circumscribed, mulberry-like lesion with a wide base, located in inferosnasal quadrant, in the vinicity of the optic nerve. The patient underwent neurological, pediatric, and genetic evaluations that excluded other pathological findings or underlying systemic disease. LESSONS: The prognosis for RAH is generally good, however, the lesion requires regular ophthalmologic follow-up to rule out the progression of the tumor mass. The patient 7-year follow-up history is without evidence of tumor growth, local or general deterioration of the condition.

First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome.

Background: Mowat-Wilson syndrome (MWS) is extremely rare multisystemic autosomal dominant disorder caused by mutations in the Zinc Finger E-Box Binding Homeobox 2 (ZEB2) gene. Ocular pathologies are one of the symptoms that appear in the clinical picture of MWS individuals, but not many have been described so far. Pathologies such as optic nerve or retinal epithelium atrophy, iris or optic disc coloboma as well as congenital cataracts have been most frequently described until now. Therefore, we would like to report the first case of bilateral developmental cataract in a 9-year-old girl with MWS who underwent successful cataract surgery with intraocular lens implantation. Case Presentation: A 9-year-old girl, diagnosed with p.Gln694Ter mutation in ZEB2 gene and suspicion of MWS was referred to the Children's Outpatient Ophthalmology Clinic for ophthalmological evaluation. Her previous assessments revealed abnormalities of the optic nerve discs. The patient was diagnosed with atrophy of the optic nerves, convergent strabismus, and with-the-rule astigmatism. One year later, during the follow-up visit, the patient was presented with decreased visual acuity (VA), developmental total cataract in the right eye and a developmental partial cataract in the left eye. This resulted in decreased VA confirmed by deteriorated responses in visual evoked potential (VEP) test. The girl underwent a two-stage procedure of cataract removal, first of one eye and then of the other eye with artificial lens implants. In the 2 years following the operation, no complications were observed and, most remarkably, VA improved significantly. Conclusions: The ZEB2 gene is primarily responsible for encoding the Smad interaction protein 1 (SIP1), which is involved in the proper development of various eye components. When mutated, it results in multilevel abnormalities, also in the proper lens formation, that prevent the child from normal vision development. This typically results in the formation of congenital cataracts in children with MWS syndrome, however, our case shows that it also leads to the formation of developmental cataracts. This is presumably due to the effect of the lack of SIP1 on other genes, altering their downstream expression and is a novel insight into the importance of the SIP1 in the occurrence of ocular pathologies. To the best of our knowledge, this is the first case of bilateral developmental cataract in the context of MWS. Moreover, a novel mutation (p.Gln694Ter) in the ZEB2 gene was found corresponding to this syndrome entity. This report allows us to gain a more comprehensive insight into the genetic spectrum and the corresponding phenotypic features in MWS syndrome patients.

Evaluation of Macular Ganglion Cell-Inner Plexiform Layer in Children with Deprivational Amblyopia Who Underwent Unilateral Cataract Surgery.

Background and Objectives: The aim of the study is to assess macular ganglion cell and inner plexiform layer (mGCIPL) thickness in deprivational amblyopic eyes (AE), fellow non-amblyopic eyes (FE) and normal eyes (NE) using spectral. domain optical coherence tomography (SD-OCT). Materials and Methods: Twenty two children (64% boys) who underwent surgical removal of unilateral congenital or developmental cataracts and exhibited visual impairment despite postoperative visual rehabilitation were included in the study. Cataract surgery was performed in patients aged 55.82 ± 35.85 months (range 6 to 114 months). The mean age of the study group was 9.73 ± 2.85 years (range 5 to 15 years). The comparison group consisted of 22 healthy age- and gender-matched children. The best corrected visual acuity (BCVA) after surgery was: 0.75 ± 0.27 (range 0.3 to 1.3) in AE, 0.1 ± 0.13 (range 0 to 0.5) in FE and 0.04 ± 0.07 (range 0 to 0.2) in NE. OCT scans were performed in all patients and subsequently corrected for axial length related magnification errors. Results: The average thickness of mGCIPL was 70.6 ± 11.28 µm in AE; 77.50 ± 6.72 µm in FE and 81.73 ± 5.18 µm in NE. We found that mGCIPL was statistically significantly thinner in deprivation AE compared to FE (p = 0.038) and NE (p = 0.0005). The minimum thickness of mGCIPL was respectively: 62.68 ± 13.2 µm, 70.3 ± 7.61 µm, and 74.5 ± 5.47, and also differed between AE and FE (p = 0.023) and AE and NE (p = 0.0004). Also, measurements in the inferior, inferotemporal, and superotemporal sectors showed thinning of mGCIPL in AE compared to NE. Conclusions: This analysis may suggest that deprivational amblyopia caused by unilateral congenital or developmental cataract in children may be associated with mGCIPL thinning.

Success rates of probing for congenital nasolacrimal duct obstruction at various ages.

BACKGROUND: Although nasolacrimal duct probing is the standard treatment for congenital nasolacrimal duct obstruction (CNLDO) among children, the optimal timing of this procedure has been a topic of debate. The aim of the study was to analyze the clinical efficacy of nasolacrimal duct probing among patients with CNLDO symptoms at various ages. METHODS: An 8-year retrospective study involved 2434 patients (3009 eyes), who underwent nasolacrimal duct probing conducted under topical anesthesia in the operating theatre. The study group consisted of 1148 girls (47.2%) and 1286 boys (52.8%) from 2 weeks to 41 months (average age was 8 ± 5.6 months). The participants were divided into nine age groups: 0-2 months, 3-6 months, 7-9 months, 10-12 months, 13-15 months, 16-18 months, 19-21 months, 22-24 months and over 24 months. RESULTS: Bilateral obstruction was present among 575 (23.6%) children and was associated with a higher percentage of unsuccessful procedures compared to patients with unilateral obstruction (16.9% vs 10.2%, p < 0.001 Chi-square test). The success rate of the initial probing was 87.2% for all children and it was shown that it decreased with age. In the above age groups, it was 87.9%; 91.4%; 89.6%; 86%; 76.3%; 71.3%; 70.3%; 70.2%; 65.4%, respectively. CONCLUSIONS: Probing is a safe and effective procedure. However, age at the time of the initial intervention and bilateral surgery constitute significant risk factors for failed probing. Probing between 7 and 9 months appears to be reasonable treatment strategy for children without recurrent infections. Early surgical intervention may be considered for patients with additional signs.

Nonpenetrating very deep sclerectomy with hyaluronic acid implant vs trabeculectomy--a 2-year follow-up.

OBJECTIVE: To study and compare the efficacy and safety of nonpenetrating very deep sclerectomy (NPVDS) with the use of hyaluronic acid implant (SKGEL) to trabeculectomy (TB) in patients with with medically uncontrolled glaucoma. METHODS: Prospective, controlled study of patients with open-angle glaucoma was designed. Seventy-eight eyes of 68 patients with medically uncontrolled glaucoma were assigned either to the NPVDS or to the TB group of trial. Examinations were applied before and 7 days, 1, 3, 6, 12, 18, and 24 months after surgery. MAIN OUTCOME MEASURE: Best-corrected logMAR visual acuity, intraocular pressure, number of additional procedures, antiglaucoma medications, number of complications. RESULTS: At 24 months, success rate defined as IOP ≤ 21 mmHg with medication and additional procedures in NPVDS group was 92.31 %, and 94.88 % in control group (p = 0.64). There was no statistically significant difference between intraocular pressure in NPVDS (14.56 ± 4.07 mmHg ) and control (TB) (15.38 ± 3.38 mmHg) group (p = 0.34). Number of glaucoma mediations decreased from 2.18 ± 0.56 to 0.54 ± 0.56 in NPVDS and from 2.28 ± 1.41 to 0.61 ± 0.03 in TB group (p = 0.71). Early and late postoperative complications included two cases of hyphema, two of choroidal detachment, two of filtering bleb fibrosis, four of cataract progression in the NPVDS group; and five cases of hyphema, four of choroidal detachment, one of filtering bleb fibrosis, one of blebitis, and 12 of cataract progression in the control group. CONCLUSIONS: NPVDS is an effective surgical option for patients with medically uncontrolled glaucoma. NPVDS is associated with a lower risk of complications, and in particular cataract progression, compared to TB. APPLICATION TO CLINICAL PRACTICE: NPVDS is a modification of NPDS devised for patients with medically uncontrolled open-angle glaucoma.

Quantitative relationships between transforming growth factor beta mRNA isoforms in congenital and traumatic cataracts.

PURPOSE: The aim of this study was to determine differences in the expression profiles of transforming growth factor (TGF) ß isoforms in the fragments of anterior lens capsules (ALCs) and peripheral blood mononuclear cells (PBMCs) of pediatric patients with congenital and traumatic cataracts. METHODS: Forty children with congenital cataracts (19 girls and 21 boys) and 22 children with traumatic cataracts (six girls and 16 boys) participated in the study. Fragments of ALCs obtained during cataract surgery and whole blood samples were analyzed. Quantification of TGFß1, TGFß2, and TGFß3 mRNA was performed by real-time quantitative reverse transcription (QRT)-PCR using SYBR Green I chemistry. RESULTS: TGFß1, TGFß2, and TGFß3 mRNA was detected in all the studied samples. Significant differences were found for TGFß1 and TGFß2 expression profiles in PBMCs between the patients with congenital and traumatic cataracts. The expression profiles of TGFß isoforms in ALCs did not differ significantly between the groups. CONCLUSIONS: Overexpression of TGFß1 and TGFß2 in the PBMCs of patients with congenital cataracts might indicate that these cytokines are involved in the development of lens opacity.

[Variability of the eyeballs axial length in children with pseudophakia]. / Zmiennosc dlugosci osiowej pseudofakijnych galek ocznych u dzieci.

PURPOSE: The aim of the study is to evaluate the dynamics of axial elongation of pseudophakic eyes and changes in refraction pseudophakic eyes in children after monocular or binocular cataract surgery. MATERIAL AND METHODS: the observations of 79 children (158 eyes) aged from 4 to 18 years (mean 9.7 +/- 0.55) after cataract surgery were conducted. The examined group consisted of 105 pseudophakic eyes, the comparative group consisted of 53 eyes without surgery in the same observed group of children. Moreover, the patients were evaluated in the following group: moncular - binocular cataract, primary or secondary IOL implantation, the age in groups were between 4-7 and between 8-18 years. Analysis statistically: STATGRAPHICS and SIMSTAT programs, p (alpha) = 0.05. RESULTS: In the examined group (105 eyes) the mean follow-up time was 4.2 years (+/- 0.3), the average age of patients was 9.7 years (+/- 0.7). Improvement of visual acuity was achieved mean 0.5 in 52.4% post operative eyes observed, myopic shift was -0.7D (+/- 0.52). The anatomic eyeball length increased up to 0.5mm (+/- 0.27). The average age of patients of the control group was 9.7 years (+/- 0.83), follow-up 4.3 years (+/- 0.44), visual acuity 0.8 (+/- 0.03). Mean elongation of the axial length was 0.56 mm(+/- 0.26), mean refraction of the eyeball was +0.38 D (+/- 0.54). The difference of the changes of refraction between examined and control group was statistically significant. The comparison of final refraction in optical pathway (p = 0.32) and the growth of anatomic eyeball length (p = 0.14), proved no significant differences in the group with monocular and binocular IOL. The comparative analysis of final refraction in optical pathway (p1 = 0.36), and the growth of anatomic eyeball length (p2 = 0.26) in the group with primary or secondary IOL and in the younger or older children (p1 = 0.52; p = 0.98) in the both groups, did not significantly differ. CONCLUSIONS: The dynamics of axial elongation of pseudophakic and phakic eyes in children is similar. The myopic shift of pseufophakic eyes is bigger than in phakic eyes. It should be undertaken in calculation of the refractive power of intraocular lenses.

[Heparin-surface-modified PMMA intraocular lenses in children in early and late follow-up]. / Wszczepy soczewek heparynizowanych u dzieci we wczesnym i póznym okresie obserwacji.

PURPOSE: To compare anatomical and functional state of eyeballs after congenital cataract extraction and heparin-surface-modified PMMA (HSM-PMMA) or PMMA implanted lenses and to conclude, which type of implants is more advantageous in young patients. MATERIALS AND METHODS: 42 eyes of 30 children at the age of 3-16 years with congenital or developmental cataract after extraction and IOL implantation: I group--HSM-PMMA lenses in 24 eyes, and PMMA lenses in 18 eyes--II group. Mean age in the I group was 6 years and in the II group 8 years, p = 0.07. The presence of cellular and pigment deposits on the IOL surface as a sign of postoperative inflammation was examined by slit-lamp within 1 month after surgery. We have compared the results of visual acuity (V/A), corneal endothelium cell density and posterior capsule state. The examination were done in the short-term follow-up mean 14.1 months (4-24 months) in the I group and mean 32.1 months (16-48 months) in the II group. In the long-term follow-up mean 38 months (30-44 months) in the I group, and mean 56.1 months (40-72 months) in the II group. RESULTS: Within first month after operation cellular and pigment deposits on the IOL surface were seen more often in the II group, p = 0.03. Best corrected V/A was comparable in both groups in the short-term and the long-term follow-up. At last visit, mean value of V/A was 0.54 (I group) and 0.42 (II group), p = 0.37. There was no significant difference between central corneal endothelial cell density in both groups: before (2893 +/- 261/mm2 and 2821 +/- 217/mm2, p = 0.143) and after operation (2371 +/- 202/mm2 and 2361 +/- 299/mm2, p = 0.428). In the short-term follow-up, but not longer than within first 12 months after surgery the frequency of clinically significant posterior capsule opacification (PCO) was less in the HSM-PMMA group (8%), than in the PMMA group (33%), p = 0.006. In the long-term follow-up there was no statistically significant difference in PCO appearance between these groups (44% and 50%, p = 0.27). CONCLUSIONS: Heparin-surface-modified intraocular lenses reduced postoperative inflammation and delayed the incidence of PCO in children. Heparin-surface-modified intraocular lenses are more advantageous, than PMMA lenses in young patients.