Diffuse choroidal retinal atrophy (DCA) is a type of myopic macular disease that presents with yellowish-white atrophic changes at the posterior pole of the eyeball. DCA is an important critical feature in the diagnosis of pathological myopia. Early intervention and treatment of this disease are of great significance in delaying the progression of pathological myopia and reducing the impairment of visual function. Ophthalmic imaging data can be used to diagnose the disease, and color fundus photography is the most simple and intuitive. Choroidal thickness is also a key indicator in the diagnosis of DCA, but the diagnostic critical value of choroidal thickness has not been clearly defined. With the development and popularization of artificial intelligence technology, the analysis of lesion imaging data is more objective and accurate. In the future, it is expected to actively establish a standard quantitative evaluation system for DCA by means of artificial intelligence to achieve early detection, early diagnosis and early treatment of pathological myopia.
ObjectiveTo observe the clinical manifestations of a Wagner syndrome (WS) family. MethodsA retrospective clinical study. Four patients (the proband, his father, sister, and brother) and one family member (the proband's mother) from a WS family diagnosed by clinical examination in Chengdu Aidi Eye Hospital in June 2023 were included in the study. The proband's medical history was examined in detail, followed by best corrected visual acuity (BCVA), fundus color photography, optical coherence tomography (OCT), and OCT angiography (OCTA). The proband underwent full field electroretinogram (ERG) examination. The proband and his sister and brother underwent blood glucose, blood pressure, hearing, face, joint, exercise and general physical examination at the same time. Peripheral venous blood was collected from the proband and 4 other family members. The proband extracts genomic DNA samples, conducts target region capture, library construction and high-throughput sequencing after qualified quality control. The suspected pathogenic mutation sites were verified by Sanger. According to the selected mutation sites, other family members in this family were co-isolated and verified. The pathogenicity of the mutation site was analyzed using the guidelines of the American College of Medical Genetics and Genomics (ACMG). ResultsProband (Ⅱ-1) was 23 years old female. Both eyes BCVA were 0.1. The waveforms of ERG in both eyes were basically normal, and some amplitudes were reduced. Sister of the proband (Ⅱ-2) was 20 years old. Both eyes BCVA 1.0. Fundus examination showed no obvious abnormality. Brother of the proband (Ⅱ-3) was 19 years old. The left eye underwent pars plana vitrectomy combined with silicone oil filling 2 years ago due to retinal detachment and severe vitreous hyperplasia. BCVA light sensitivity, complicated cataract, and fundus opacity were observed. Right eye BCVA was 0.1. The lenses of the proband and his younger sister and brother (Ⅱ-1-3) were pointed and wedged, and the younger brother was heavier. Vitreous cavity of lens. The retina color of both eyes and the right eye of the younger brother of the protor was dark, with flaky dark areas on the side of the nose and the posterior pole, and the symmetrical retinal veil membrane hyperplasia and pulling on the periphery, showing small retinal splits. The choroidal retina showed focal and segmental symmetrically large atrophy. The optic disc is tilted. By OCT examination, the ellipsoid band was partially missing and broken, and the thickness of the choroid layer was reduced. Retinal cortical atrophy in 1 eye (younger brother of proband). By OCTA examination, the mesovascular layer of choroid was atrophied seriously and the blood density decreased. The results of laboratory and general examination of the three siblings showed no obvious abnormalities. The results of genetic testing showed that the proband (Ⅱ-1), his father (Ⅱ-1), his sister (Ⅱ-2) and his brother (Ⅱ-3) carried a heterozygous mutation of the VCAN gene c.9264A>G (p.Pro3088=). According to ACMG guidelines, the pathogenicity of this variant is unknown. The mother was wild type. ConclusionsThe abnormal manifestations of WS eyes are diverse, and both anterior and posterior segments could be involved. The pathogenicity of the heterozygous variation of VCAN gene c.9264A>G (P.RO3088 =) in this family is unknown.