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Different ocular findings have been described in association with neurofibromatosis 2 (NF2). Detailed ophthalmological examination of asymptomatic subjects with a family history of NF2 could help confirm the diagnosis in young patients. We present a case of unilateral cataract and bilateral epiretinal membranes in a 5-year-old boy with a family history of neurofibromatosis 2. The patient was referred to our department with diminished visual acuity bilaterally and an initial diagnosis of cataract in the right eye. Bestcorrected visual acuity was 3/19 in the right eye and 3/24 in the left eye (LH charts). On fundus examination, bilateral macular epiretinal membranes were found and confirmed by optical coherent tomography. In view of the ophthalmic signs mentioned above and the history of the patient's father, who suffered from NF2 and died from meningioma and ependymoma, the patient was referred for genetic examination. Seventeen exons of the NF2 gene were tested with negative results. No pathology was found on clinical neurologic examination and magnetic resonance imaging of the brain. Although the patient has not met the criteria for NF2, he is now considered as an asymptomatic subject at risk and observed. Lens opacities with epiretinal membranes in children may be regarded as part of the clinical manifestation of NF2. [ABSTRACT FROM AUTHOR]

Background: Poststreptococcal syndrome (PSS) can be a consequence of nonpurulent primary infection with group A streptococci (GAS). Postreptococcal uveitis is a well recognized entity with quite a few descriptions in the literature, but so far no conjunctival involvement has been reported.The aim of the study is to present a rare case of postreptococcal conjunctival lesions mimicking a lymphoma.Case Presentation: 19-years-old Caucasian female presented with pink, nodular infiltrates in the right conjunctiva that occurred a few months after upper respiratory tract infection and tonsillectomy. Histopathological examination of collected lesion samples revealed inflammatory reaction with lymphocytes proliferation and failed to rule out a myeloma. Complementary flow-cytometry did not show monoclonal proliferation of lymphocytes B. During follow-up we observed the complete regression of conjunctival lesions after the benzyl penicillin treatment prescribed by ENT specialist due to elevated plasma ASO levels. Therefore, we suppose that those lesions must have represented a part of poststreptococcal syndrome.Conclusions: To conclude, this is, to the best of our knowledge, the first report of conjunctival involvement in the course of PSS related to group A streptococci. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly heterogeneous group of disorders characterized by progressive dysfunction of photoreceptors and retinal pigment epithelium (RPE) cells., Methods: The study group was composed of four groups of patients representing different Mendelian inheritance of the disease: autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XL), and autosomal recessive or X-linked recessive (AR/XL). The combined molecular strategy included Sanger sequencing of the RPGR-ORF15 gene (three families with XL and three families with the AR/XL mode of inheritance), mutation-specific microarray analysis of the ABCA4 gene (five families with the AR mode of inheritance and two families with the AR/XL mode of inheritance), targeted next-generation sequencing (NGS) of inherited retinal disease-associated (IRD) genes (seven families with the AD mode of inheritance and five families with the AR mode of inheritance), and whole exome sequencing, performed in select families who had been mutation-negative in the analysis with the targeted NGS panel (one family with the AD mode of inheritance, one family with the AR mode of inheritance, and two families with the AR/XL mode of inheritance)., Results: Based on this combined strategy, we managed to identify potentially causative variants in seven out of 18 families with CRD. Five of these variants are novel: c.3142_3143dupAA, p.(Glu1049Argfs*41) in the RPGR-ORF15 gene, two variants: c.1612delT, p.(Trp538Glyfs*15) and c.2389dupG, p.(Ile798Hisfs*20) in the PROM1 gene in one family, c.592A>C, p.(Ser198Arg) in the PRPH2 gene and the variant c.1691A>G, p.(Asp564Gly) in the ATF6 gene that we have already reported to be pathogenic. NGS on the IRD panel allowed the molecular basis of CRD to be identified in four out of 14 families with a total detection rate of 38%. WES allowed identification of the molecular genetic basis of CRD in one family., Conclusions: This is the first report on the spectrum of disease genes and pathogenic variants causing CRD in the Polish population. The study presents five novel variants identified in four genes and therefore, broadens the spectrum of probable pathogenic variants associated with CRD.

Purpose: We investigated characteristics and treatment outcomes of pediatric vs adult retinal detachment managed by retinotomy and retinectomy.
, Methods: This was a retrospective, nonrandomized, interventional study involving 20 pediatric patients and 25 adult patients operated with vitrectomy and retinectomy due to retinal detachment. Outcome measures included preoperative and postoperative visual acuity at 6 months and at final visit, postoperative proliferative vitreoretinopathy, silicone oil removal, final intraocular pressure (IOP), and final anatomic success, defined as complete retinal reattachment.
, Results: Reattachment was observed in 60% (12/20) of pediatric patients and 88% (22/25) of adults at final visit (p=0.041). Statistically significant improvement in visual acuity was observed in adults (p<0.001) but not in children (p=0.360) due to large proportion of anatomic failure. Children required a higher number of further reoperations (p=0.008). Postoperative proliferative vitreoretinopathy was significantly more frequent in pediatric eyes (p=0.003). 
, Conclusions: The clinical features and prognosis for pediatric retinotomies and retinectomies are different from those for adults. When a decision to perform retinotomy in children is made, we can anticipate significantly lower anatomic success than in adults. Even though the overall visual acuity was worse in children than in adults, 25% of pediatric eyes achieved 5/50 or better vision.

Purpose: To report a new and atypical pathology of epiretinal membrane formation on the top of the retinoschisis (schisis-membrane)., Methods: We describe a patient with recent visual acuity and visual field deterioration due to a rapid progression of retinoschisis in the macular area resulting from shrinking membrane on the top of the schisis. The patient underwent vitrectomy with membrane removal., Results: Partial regression of the schisis was observed and visual acuity improved from 5/12 to 5/5. Perimetry demonstrated that the corresponding visual field deterioration partially regressed., Conclusions: Release of traction exerted by a shrinking membrane is a surgical option to promote regression of retinoschisis and improvement in visual field and vision in schisis-membrane cases.