IMMT gene codes for mitofilin, a mitochondrial inner membrane protein that regulates the morphology of mitochondrial cristae. The phenotype associated with mutations in this gene has not been yet ...established, but functional studies carried out show that its loss causes a mitochondrial alteration, both in the morphology of the mitochondrial crests and in their function. We present two cousins from an extended highly consanguineous family with developmental encephalopathy, hypotonia, nystagmus due to optic neuropathy. The likely pathogenic homozygous c.895A>G (p.Lys299Glu) variant in the IMMT gene co‐segregates with the disease and associates altered mitochondrial cristae observed by electron microscopy.
Medulloepithelioma is the second most common type of pediatric intra-ocular tumors. It commonly arises from ciliary body, and it is generally diagnosed in the first decade of life. Management options ...for medulloepithelioma include enucleation, resection, or radiotherapy, but further investigation is still needed. Herein, we report a case of a 1-year-old girl with a ciliary body mass highly suggestive of medulloepithelioma, which caused recurrent acute episodes of intense pain. Fine needle aspiration biopsy (FNAB) of ciliary body mass was performed with trans-scleral approach, and treatment with a iodine-125 brachytherapy COMS10 plaque was undertaken during the same interventional procedure. Lesion was treated using a plaque brachytherapy, with total radioactivity of 13.5 mCi distributed in 5 seeds with immediate disappearance of pain episodes and decrease of tumor size. This is the first case of medulloepithelioma treated with brachytherapy plaque after an extemporaneous anatomo-pathological examination in children with favorable response. We consider that intra-operative brachytherapy therapy after FNAB in selected ocular tumors may be safe and effective therapeutic option, but longer follow-up is needed to confirm safety and applicability of this approach in a larger group of patients.
To characterize and describe clinical experience with childhood-onset non-infectious uveitis.
A multicenter retrospective multidisciplinary national web-based registry of 507 patients from 21 ...hospitals was analyzed. Cases were grouped as immune disease-associated (IMDu), idiopathic (IDIu) or ophthalmologically distinct. Characteristics of juvenile idiopathic arthritis-associated (non-HLA-B27-related) uveitis (JIAu), IDIu, and pars planitis (PP) were compared.
IMDu (62.3%) and JIAu (51.9%) predominated in young females; and IDIu (22.7%) and PP (13.6%) in older children, without sex imbalance. Ocular complications occurred in 45.3% of cases (posterior synechiae 28%, cataracts 16%, band keratopathy 14%, ocular hypertension 11% and cystoid macular edema 10%) and were associated with synthetic (86%) and biologic (65%) disease-modifying antirheumatic drug (DMARD) use. Subgroups were significantly associated (
< 0.05) with different characteristics. JIAu was typically anterior (98%), insidious (75%), in ANA-positive (69%), young females (82%) with fewer complications (31%), better visual outcomes, and later use of uveitis-effective biologics. In contrast, IDIu was characteristically anterior (87%) or panuveitic (12.1%), with acute onset (60%) and more complications at onset (59%: synechiae 31% and cataracts 9.6%) and less DMARD use, while PP is intermediate, and was mostly bilateral (72.5%), persistent (86.5%) and chronic (86.8%), with more complications (70%; mainly posterior segment and cataracts at last visit), impaired visual acuity at onset, and greater systemic (81.2%), subtenon (29.1%) and intravitreal (10.1%) steroid use.
Prognosis of childhood uveitis has improved in the "biologic era," particularly in JIAu. Early referral and DMARD therapy may reduce steroid use and improve outcomes, especially in PP and IDIu.
Purpose: Validation of the new Postnatal Growth and Retinopathy of Prematurity (G‐ROP) criteria for screening of retinopathy of prematurity (ROP) in a Spanish tertiary care hospital with an advanced ...neonatal intensive care unit.
Methods: Retrospective cohort study that includes premature infants with current ROP screening criteria (less than or equal to 32 weeks of gestational age and/or less than or equal to 1500 g of birth weight) born between January 2017 and December 2021 in a tertiary care hospital with an advanced neonatal intensive care unit. The compliance with the G‐ROP criteria was assessed for each patient, including: gestational age <28 weeks, birth weight <1051 g, weight gain <120 g during 10–19 days postnatal age, <180 g during 20–29 days, <170 g during 30–39 days or hydrocephalus. The objective was to determine specificity, sensitivity and reduction of patients examined with these new criteria.
Results: Of 483 patients included (203 female and 280 male), the new G‐ROP criteria predicted 100% of cases of type 1 ROP (treatment‐requiring ROP) (15 of 15 cases) (Sensitivity 100%, Specificity 37.68%). Applying these criteria, there would be a reduction of 34.36% (166 patients) in infants requiring examination.
Conclusions: This study observes that the new G‐ROP screening criteria may suppose an increase of sensitivity and specificity with a reduction of the number of infants requiring screening. However, other studies with a larger population would be necessary to verify the results.
We present the case of a 14-year-old boy with ocular trauma and the complete eye-tracking OCT imaging follow-up of the development and later spontaneous closure of a secondary macular hole.▪
Objective:
Description of melphalan’s toxicity in retinoblastoma treatment.
Methods:
Clinical case report.
Results:
We presented a case of unilateral retinoblastoma with vitreous seeding at ...diagnosis, in which the use of intravitreal melphalan produced many adverse reactions.
Conclusions:
Vitreous seedings have been one of the most important challenges in retinoblastoma treatment. Intravitreal melphalan has achieved the regression of vitreous seedings in a large percentage of cases. It is a safe treatment; however, it can produce toxicity, even with the standard dose of 20-30 µg, which has been poorly documented. Exhaustive follow-up of patients is recommended for an early diagnosis of possible adverse effects.
Abbreviations:
OS = left eye, RI = magnetic resonance imaging, OCT = optical coherence tomography
Corneal dellen appeared as a complication after perilimbal conjunctival papilloma dissection in a six-year-old patient. Our purpose was to describe the use of plasma rich in growth factors (PRGF) ...fibrin membrane in covering the corneal defect after conventional medical treatment failure. PRGF fibrin membrane is an interesting therapeutical option to consider not only in adult patients, but also in children.
A 9-year-old girl from Equatorial Guinea presented to the emergency department complaining of foreign body sensation in her right eye. A thin and large, translucent, slowly moving, coiled worm was ...observed underneath the conjunctiva. Anterior segment optical coherence tomography revealed hyperreflective small areas surrounded by larger hyporeflective areas into the subconjunctival space. Loa loa microfilaria was evidenced on blood test. Surgical extraction of the subconjunctival worm was intended on slit lamp and under sedation in the operating room, but it was unsuccessful due to poor cooperation and rapid migration of the larva into the sub-Tenon's space. The patient received two cycles of oral albendazole and one cycle of diethylcarbamazine before achieving complete microfilaria seroconversion.
AS-OCT = Anterior Segment Optical Coherence Tomography, PCR = Polymerase Chain Reaction, DEC = diethylcarbamazine.
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