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.
ObjectiveTo observe the ocular clinical features and efficacy of young infants with incontinentia pigmenti (IP). MethodsA retrospective study. Clinical data of 18 young infants with IP aged 0-3 months in the Department of Ophthalmology of Henan Children's Hospital from October 2017 to February 2019 were collected in this study. All patients were underwent fundus examination under topical anesthesia or general anesthesia. Among them, 9 cases were underwent genetic testing. Patients were determined whether to treated with retinal laser photocoagulation (LIO) or intravitreal conbercept (IVC, 0.25 mg/0.025 ml) according to the condition of eyes. The followed-up time ranged from 4months to 43 months. The ocular clinical features and treatment were observed. ResultsThere were 1 male and 17 females of the 18 patients. The age of first visit were 1.2±1.0 months (2 d-3 months). All cases had typical skin lesions, 4 cases had neurological symptoms, 10 cases had tooth abnormalities, and 4 cases had cicatricial alopecia. Among the 9 cases that were underwent genetic testing, 5 cases were deleted in exons 4-10 of the IKBKG gene and 1case were a heterozygous mutation c.1124delT in exon 9 of the IKBKG gene. Among the 36 eyes, 21 eyes of 13 cases with incontinentia pigmenti-associated ocular diseases were all retinopathy (58.3%,21/36). Retinopathy of 9 cases were asymmetrical (69.2%,9/13). Among the 21 eyes, 3 eyes were simple retinal pigment abnormalities (14.3%,3/21) and 18 cases had retinal vascular lesion (85.7%, 18/21). Among the 36 eyes, 8 eyes were treated; 4 eyes were underwent LIO; 3 eyes were treated with IVC; 1 eye was treated with LIO combined with IVC. They were all improved significantly after the operation without serious complications. 1 eye with retinal detachment did not undergo surgical treatment due to guardian reasons. Perceptual exotropia and eyeball atrophy was found during the follow-up. ConclusionsThe onset of IP-related ocular anomalies is early. The early anomalies were mainly retinal vascular abnormalities. Treatment in early time is effective.
Objective To observe the ocular clinical features of infantile cytomegalovirus (CMV) infection. MethodsA retrospective clinical study. From March 2019 to July 2021, 876 eyes of 438 children with CMV infection who visited Department of Ophthalmology of Henan Provincial Children's Hospital were included in the study. Among them, there were 254 males and 184 females; the age ranged from 3 days to 11 months; the gestational weeks were 28 to 42 weeks; the birth weight was 1 120 to 8 900 g. There were 384 and 54 full-term and premature infants, respectively. Fundus examination was performed in 385 cases (770 eyes) after medical consultation; 53 cases (106 eyes) of premature infants were routinely screened. CMV retinitis (CMVR) was divided into granular type and fulminant type. Patients with CMV-related diseases with moderate to severe symptoms were given intravenous drip and/or oral ganciclovir; patients with severe fundus vasculitis were combined with intravitreal injection of ganciclovir. The follow-up period was from 4 to 28 months, and the characteristics of eye lesions, systemic comorbid diseases and treatment outcomes were observed. ResultsThere were 516 eyes of 258 cases with normal fundus (58.9%, 258/438); 291 eyes of 180 cases with CMVR (41.1%, 180/438), of which binocular and monocular were 111 (61.7%, 111/180) and 69 (38.3%, 69/180) cases. Among the 291 eyes of CMVR, 281 eyes (96.6%, 281/291) of granular type; yellow-white point-like opacity and/or retinal hemorrhage; 10 eyes (3.4%, 10/291) of fulminant type; fundus Showed a typical "cheese ketchup-like" and vascular white sheath-like changes. Among the 180 children with CMVR, 72 patients (118 eyes) were given systemic intravenous drip and/or oral ganciclovir; 5 patients (10 eyes) were given intravitreal ganciclovir, all of which were fulminant CMVR. At the last follow-up, fundus lesions regressed significantly in 100 eyes of 61 cases; 18 eyes of 11 cases had old lesions or uneven retinal pigment; 108 cases were not treated. ConclusionThe most common fundus manifestation of CMV infection in infants is granular retinitis, and fulminant retinitis is more severe, and the lesions can be significantly regressed after timely antiviral treatment.