Purpose: The aim of this study was to evaluate changes in the thickness of the peripapillary retinal nerve fiber layer (pRNFL) in children with a diagnosis of juvenile idiopathic arthritis (JIA) who were positive for human leukocyte antigen (HLA)-B27, treated for the first episode of unilateral acute anterior uveitis (AAU). Materials and Methods: This retrospective study included 41 children (aged 5 to 14 years; mean age 8.32 ± 2.4 years) with HLA-B27 positivity and unilateral JIA-AAU, and 40 healthy children. Optical coherence tomography (OCT) imaging was performed during active inflammation and subsequent noninflammatory phases (6 months after the resolution of inflammatory symptoms in the anterior segment of the eye). Results: There was a marked difference in mean pRNFL thickness between eyes with AU in the active phase, unaffected fellow eyes and the control group (110.22 ± 5.95 μm, 102.39 ± 4.39 μm and 95.83 ± 8.84 μm, respectively; p < 0.001). The thickness of pRNFL in eyes with AU in the active phase in all sectors was greater compared to unaffected fellow eyes (p < 0.001) and normal eyes (p < 0.001). In addition, it was demonstrated that pRNFL thickness was significantly increased in the superior and temporal sectors in the unaffected fellow eyes compared to the control group (128.73 ± 13.16 μm vs. 121.48 ± 13.35 μm and 71.37 ± 4.02 μm vs. 64.98 ± 9.12 μm, respectively). Even during the inactive phase, eyes with AU, compared to the healthy control group, had significantly greater pRNFL thickness in the inferior sector (129.78 ± 11.98 μm vs. 122.3 ± 14.59 μm; p = 0.018), along with the temporal sector (70.88 ± 5.48 μm vs. 64.98 ± 9.12 μm; p = 0.001). Conclusions: An increase in pRNFL thickness in children with unilateral JIA-AAU who were positive for HLA-B27 antigen can be observed in both eyes compared to healthy controls, and this change may persist even after the inflammatory symptoms have resolved. Measurements of pRNFL thickness resulting from JIA-AU-associated glaucoma should be performed during quiescent periods to avoid subclinical changes in pRNFL thickness caused by inflammation. However, when reviewing the results, it should be noted that changes in pRNFL parameters may be present despite evidence of a resolution of inflammation.

Purpose: To assess the impact of soft contact lenses on the progression of myopia in young patients. Patients and Methods: The observational study included 102 patients divided into 3 groups: MFCL (multifocal contact lenses) group: 15 girls and 9 boys, aged 8– 20 (<![CDATA[$\bar x $]]>= 14.12 ± 2.863) with soft multifocal contact lenses with myopia: <![CDATA[$\bar x $]]> = − 3.12 D ± 1.776 D and mean myopia progression − 0.23 ± 0.233D after 2 years; SVCL (single vision contact lenses) group: 30 girls and 5 boys, 11– 20 years old (<![CDATA[$\bar x $]]>=15.5 ± 2.24) with myopia <![CDATA[$\bar x $]]> = − 2.88 ± 2.122 D at admission and mean myopia progression − 0.54 ± 0.464 D after 2 years; the spectacle (single vision glasses) group: 25 girls and 18 boys, aged 8– 18 years (<![CDATA[$\bar x $]]> = 13.65 ± 2.448) with single vision glasses with myopia: <![CDATA[$\bar x $]]> = − 1.74 ± 1.412 D at admission and mean myopia progression − 0.86 ± 0.489D after 2 years. Medical history and physical examination were performed every 6, 12, 18 and 24 months. Refractive error was examined using the autorefractometry after cycloplegia. Results: The analysis of myopia correction after 2 years showed differences between MFCL and spectacle correction. The change in myopia progression after 2 years was statistically significant for MFCL vs SVCL and MFCL vs spectacle correction when the myopia occured before the period of intensive growth. When myopia occurred during the period of intensive growth, difference was noted for MFCL vs spectacle correction and SVCL vs spectacle correction. When myopia occurred after a period of intensive growth, no significant differences between the groups were observed. Conclusion: 1) Multifocal contact lenses and some single vision contact lenses (Biofinity) may be useful in the control of myopia in younger patients, slowing the progression of nearsightedness; therefore, they can be a therapeutic option in inhibiting the progression of myopia. 2) The best effects of using multifocal contact lenses occur if myopia is diagnosed before the period of intensive growth.

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.

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.