Search

To report a case of a boy with acute keratoplasty rejection manifesting 12 days after receiving BNT162b2 messenger RNA (mRNA) vaccine for COVID-19.A case report.A 15-year-old boy with a history of penetrating keratoplasty due to acanthamoeba keratitis developed corneal decompensation 12 days after BNT162b2 messenger RNA vaccine for COVID-19 disease. One-week treatment with topical Dexamethasone 2% eye drops resulted in a complete resolution of corneal edema.This case suggests that BNT162b2 messenger RNA (mRNA) vaccine can be associated with acute keratoplasty rejection in children, which responds completely to topical steroids. Ophthalmologists should be aware of this risk of cornea decompensation after COVID-19 vaccine in children who received a cornea transplant.

Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. Albino patients can show significant clinical variability; some individuals can present with only mild depigmentation and subtle ocular changes. Here, we provide a retrospective review of the standardized clinical charts of patients firstly addressed for evaluation of foveal hypoplasia and slightly subnormal visual acuity, whose diagnosis of albinism was achieved only after extensive phenotypic and genotypic characterization. Our report corroborates the pathogenicity of the two common TYR polymorphisms p.(Arg402Gln) and p.(Ser192Tyr) when both are located in trans with a pathogenic TYR variant and aims to expand the phenotypic spectrum of albinism in order to increase the detection rate of the albino phenotype. Our data also suggest that isolated foveal hypoplasia should be considered a clinical sign instead of a definitive diagnosis of an isolated clinical entity, and we recommend deep phenotypic and molecular characterization in such patients to achieve a proper diagnosis. ispartof: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES vol:23 issue:14 ispartof: location:Switzerland status: published

To study the relationships of functional and morphologic retinal parameters in a series of pediatric patients with varying degrees of foveal hypoplasia (FH).Monocentric observational retrospective study.Among 21 pediatric patients, 16 met inclusion criteria, having FH confirmed with spectral-domain optical coherence tomography (SD-OCT) scan METHODS: Data were analyzed retrospectively. Patients able to undergo macular microperimetry (MP) and SD-OCT examinations were included in the analysis. MP and SD-OCT outcomes were compared with FH grading and best-corrected visual acuity (BCVA) using Pearson's correlation.Thirty-one eyes from 16 patients (mean age 12.4 years) with different degrees of FH were analyzed. Two patients had grade 1, 7 had grade 2, 5 had grade 3, and 2 had grade 4 FH. Clinical nystagmus was present in 8 patients. The correlation between BCVA and SD-OCT data (-0.31) was lower than that found between BCVA and nystagmus (0.64), that for fixation index P1 (-0.60), as well as that for macular sensitivity (-0.63).Although limited by the small sample, our study confirms the feasibility of automated MP evaluation in pediatric patients with FH. The added value of this work is the provision of data on relationships between anatomic and functional macular measurements acquired with SD-OCT, MP, and BCVA in eyes with various degrees of FH. Larger prospective studies are necessary to confirm these results.

PURPOSE The aim of this study was to evaluate the safety and efficacy of tacrolimus 0.1% eye drops in a large population of pediatric patients affected by a severe form of vernal keratoconjunctivitis (VKC) who responded poorly to cyclosporine eye drops. METHODS This is a retrospective study based on standardized clinical charts and data collection of consecutive patients affected by severe VKC who responded poorly to cyclosporine eye drops topical treatment but treated with tacrolimus 0.1% eye drops with a follow-up of 18 months. Four clinical signs were graded for analysis: hyperemia, tarsal papillae, giant papillae, and limbal papillae. The blood tests for kidney and liver function and the tacrolimus level were studied. Visits were scheduled at baseline and at 3, 6, 12, and 18 months. Patients received tacrolimus 0.1% eye drops in both eyes 2 times daily. RESULTS Four hundred thirty-one patients were included. Three hundred twenty-five patients were affected by a seasonal form, whereas the remaining 106 by a perennial form. Statistical analysis on each single score showed a positive relevance (P < 0.001) from baseline to all other visits. No local or systemic complications were recorded. CONCLUSIONS Tacrolimus has been proposed as a treatment for severe forms of VKC. This study has confirmed the safety and efficacy of tacrolimus 0.1% eye drops in a large pediatric population of patients affected by a severe form of VKC who responded poorly to cyclosporine eye drops.

Objective: To report fixation stability changes in patients with different forms of infantile nystagmus syndrome (INS), who have undergone a visual rehabilitation through biofeedback fixation training (BFT) with microperimetry (MP). Design: Retrospective study. Methods: Patients 6 to 12 years-old with INS who performed BFT with MP. Initially 10 once-weekly followed by eight twice-weekly sessions of BFT during a minimum of 6 months period were performed. Visual acuity (VA) and MP fixation stability indices were analyzed, including displacement from fixation point (P1, P2) and percentage of retinal loci used during fixation attempt (BCEA 63% and 95%). Statistical analysis was conducted at baseline (BL), 10 weeks (W10) and 6 months (M6). Results: Twelve patients (mean age 8.9 years.) with INS completed the whole training session. All patients showed significant improvement in the mean BCEA fixation area (deg2): For BCEA@95% BL was 78.0, 46.1 at W10, and 27.4 at M6 ( p-value = 0.004). For BCEA@63% BL was 27.3, 15.4 in W10, and 9.17 at M6 ( p = 0.01). The ANOVA test for the FS indices of P1 and P2, as well as for BCVA showed no significant difference when compared at the same intervals. Conclusion: Fixation stability (FS) indices of BCEAs (63% and 95%) improved at W10 and M6, while P1 and P2 showed significant improvement at W10 but not at M6, probably because BCEA involves a much larger area than P1 and P2. VA did not show significant improvement at any time point.

International audience; PURPOSE: To report a novel finding in patients with Fabry disease, that is, the observation by adaptive optics ophthalmoscopy of intracellular lipidic deposits in retinal vessels. METHODS: Observational two-center case series. Eighteen patients with genetically proven Fabry disease underwent flood-illumination adaptive optics ophthalmoscopy imaging (rtx1; Imagine Eyes, Orsay, France) of retinal vessels. RESULTS: Fourteen patients (78% of all patients; 7 of the 10 women and 7 of the 8 men) showed paravascular punctuate or linear opacities in both eyes. In the least-affected patients, these were seen only in the wall of precapillary arterioles as discrete spots of 5 µm to 10 µm large, whereas in those more severely affected, capillaries and first-order vessels were also involved with diffuse opacification of the wall. These deposits sometime showed a striated pattern, suggesting colocalization with vascular smooth muscle cells. CONCLUSION: Adaptive optics ophthalmoscopy of retinal vessels may be of interest for patients with Fabry disease, providing noninvasive, gradable evaluation of microvascular involvemen

Background: Biallelic pathogenic variants in MFRP and PRSS56 genes can be responsible for nanophthalmos (NO) or posterior microphthalmos (PM). This study describes detailed clinical and molecular f...