Myopic macularpathy is the main cause of the decline of visual function in high myopia, which including tigroid fundus, lacquer cracks, diffuse retinal choroid atrophy, plaque retinal choroid atrophy, choroidal neovascularization (CNV), Fuchs spot and posterior staphyloma. The tigroid fundus is the initial myopic retinopathy. The lacquer cracks is a special lesion in the posterior pole of high myopia. When the lacquer cracksen enlarge or lacquer cracks progress to plaque retinal choroid atrophy should be paid to monitoring the occurrence of CNV. Myopic macularpathy progression include two mode. One is from tigroid fundus——lacquer cracks——plaque retinal choroid atrophy——CNV to macular atrophy. And the other is from tigroid fundus——diffuse retinal choroid atrophy——atrophy enlarge to diffuse retinal choroid atrophy with plaque retinal choroid atrophy or plaque retinal choroid atrophy occurence on the border of posterior staphyloma. Understanding the progression patterns and natural course of these lesions will help the clinic to further understand the course of high myoipa.
ObjectiveTo observe and analyze the clinical characteristics and correlation between the eye and nervous system in children with infantile gangliosideosis.MethodsFrom November 2018 to January 2021, 3 children with infantile ganglion lipidosis diagnosed by genetic examination in the Department of Ophthalmology and Neurology, Beijing Children's Hospital of Capital Medical University, and through China National Knowledge Infrastructure and Wanfang database and The National Library of Medicine of the United States (PubMed) were searched, and 53 cases of Chinese infantile gangliosideosis diagnosed by gene, enzyme activity or pathological examination were selected and a total of 56 cases were included in the study. The searching time was from the establishment of the database to February 2021, and the search keywords are "gangliosideosis", "cherry-spot" macula and "Chinese". The demographic characteristics of 56 cases of children and other system manifestations were analyzed such as eyes, nervous system, skin, bones. According to the presence or absence of cherry-spot (CS) on the fundus examination, the children were divided into a fundus CS group (group A) and a fundus without CS group (group B), with 20 and 27 cases, respectively. The age of onset, gender, different types and neurological manifestations of the two groups of children were compared and analyzed. The non-parametric rank sum test was used for age comparison between groups; the χ2 test or Fisher's exact test were used for the comparison of gender, disease type and incidence between groups.ResultsAmong the 56 children, 27 were males and 29 were females; the median age of onset was 7.0 months. There were 33 and 23 cases of GM1 and GM2, respectively. Among 44 children with visual function examination records, 41 cases (93.2%, 41/44) were unable to follow the visual object. Of 47 children who underwent ocular fundus examination, 20 cases (42.6%, 20/47) had CS on the fundus. The main manifestations of the nervous system are neuromotor development regression or retardation (100%, 56/56), convulsions (58.1%, 25/43), and "startle" phenomena (89.7%, 26/29). Among 42 patients with brain magnetic resonance imaging examination records, 39 cases (92.9%) were abnormal. The incidence of "startle" and seizures in group A was higher than that in group B, and the difference was statistically significant (χ2=5.815, 6.182, P=0.021, 0.013).Conclusios Chinese infantile gangliosideosis is more common in GM1 type. Ocular visual impairment is the visual object as the main manifestation, the incidence of fundus CS is 42.6%, and the symptoms of neurological damage in children with CS are more severe.