Objective To observe the retinoblastoma (RB) reexamination of children with new and recurrence retinoblastoma under special circumstances.MethodsFrom January 2, 2020 to March 15, 2020, 30 children with RB who had fundus examination in Henan Children's Hospital were enrolled in this study. Among them, 14 were male, 16 were female; 18 were monocular and 12 were binocular. The average age was 37.07±18.15 months. The mean age of initial diagnosis was 20.23±13.77 months. Two patients had a family history (6.67%). In 42 eyes, stage B, C, D and E were 7, 8, 20 and 7 eyes, respectively. Twenty-one eyes had finished the treatment course and 21 eyes were during treatment. All the children underwent RetCam fundus examination, orbital MRI, ocular B-ultrasound and so on. Whether the children had new tumor or recurrence at different treatment stages was observed.ResultsAmong 7 eyes in stage B, there was no recurrence or new tumor at the end of treatment or in the process of treatment. Among 8 eyes in stage C, there were 1 eye with new tumor and 1 eye with activity tumor at the end of treatment. Among 20 eyes in stage D, there were 1 eye with recurrence tumor at the end of treatment, 3 eyes with new tumor and 7 eyes with activity tumor at the end of treatment. Among 7 eyes in stage E, 5 eyes had eyeball enucleation and 2 eyes were receiving treatment; there were 1 eye with activity tumor at the end of treatment, 1 eye with recurrence tumor, 1 eye with activity tumor. Among 18 monocular eyes, there were 11 eyes in the treatment process, 2 eyes with new tumor, 1 eye with recurrence tumor and 3 eyes with activity tumor. Of the 24 binocular eyes, 10 were receiving treatment and there were 3 eyes with new tumor, 6 eyes with activity tumor. Twenty-one eyes had finished the treatment course, the average time required for follow-up was 3.71±0.31 months, and the average time delayed for follow-up was 6.43±1.66 weeks. There was a recurrence of tumor in 1 patient who had finished the whole treatment, the incidence was 4.76%. In the course of treatment, 21 eyes were required to have a follow-up time of 3 weeks, and the average delayed follow-up time was 6.00 ± 1.89 weeks. There were 5 eyes with new tumors, with a incidence of 21.74%. Nine eyes still had activity and needed to be treated in time.ConclusionsThe higher the risk of tumor staging, the more relapses and new tumors. The patients who are being treated, the time of delayed follow-up, the higher the recurrence or new tumor than the children who have finished the treatment course and delayed the follow-up. The children who have relapsed or new tumor in the treatment course of binocular are higher than the children who have monocular.
ObjectiveTo observe the clinical features of eyes in children with methylmalonic acidemia (MMA). MethodsA retrospective clinical case study. From June 2019 to June 2022, 13 children with MMA visited on the Department of Ophthalmology of Henan Children's Hospital were included in the study. The anterior segment and fundus were examined under surface or general anesthesia. Best corrected visual acuity (BCVA) and refraction were performed in 9 cases; fluorescein fundus angiography (FFA) was performed in 3 cases; flash electroretinogram (FERG) was performed in 6 cases; flash visual evoked potential (FVEP) was detected in 6 cases; optical coherence tomography (OCT) was performed in 3 cases. ResultsAmong the 13 pediatric patients with methylmalonic acidemia, 6 cases were male and 7 cases were female. The average age at first visit was 45 months. All cases suffered from hyperhomocysteinemia; 9 cases were with epilepsy; 2 cases were with infantile spasms; 11 cases were with stunting, 13 cases were with repeated pulmonary infection during growth period; 4 cases were with hydrocephalus; 1 cases was with hypertension and renal insufficiency. Genetic dectection results of 8 cases were recorded, MMACHC:c.609G>A:p.W203* mutation site was found in all cases. One case was accompanied by corneal ulcer. There were 10 cases with nystagmus, 4 cases with macular degeneration, 3 cases with hyperopic refractive error and esotropia. Nine cases underwent BCVA examination, BCVA was light perception-0.6. In OCT, 2 cases of 3 cases showed retinal thinning and photoreceptor cell layer atrophy in the macular area. In FFA, 2 cases of 3 cases showed circular transparent fluorescence in the macular area. Five cases of 6 cases who with FVEP had different degrees of P100 peak time delay and decreased amplitude, and 4 cases of 6 cases with FERG had decrease of a and b wave in light and dark adaptation. ConclusionsThe clinical phenotypes of eyes in children with MMA are various and the severity was different; most of them are accompanied by nystagmus, and the fundus lesions are common in the characteristic bovine eye like macular region. Those with macular disease have severe visual impairment.