Objectives To observe the clinical features of a pedigree of dominant drusen with high supermetropia. Methods Three patients in a family with dominant drusen were retrospectively reviewed. The refractive conditions were confirmed by computer and manual refraction examination with pupils dilated by tropicamide. Color fundus photography and fluorecein angiography were carried out with a FF450 Plus Zeiss camera. The fundus fluorescein angiography (FFA) photos were analyzed. Standard electroretinogram responses (ERGs) were also recorded. The characteristics of refractive condition, color fundus photos, FFA and ERG of the patients were analyzed. Results Various degrees of drusen were observed in the retinae of the three patients. The disease in the younger brother of the proband was mild and in the mother is severe. A large number of drusen existed in the peripheral retina as well as macula in the mother of the proband. FFA revealed window defects corresponding to the drusen. The dilated refractive results showed high supermetropic refractive error in the three patients. All of the eyes except the left eye of the mother of the proband showed refractive amblyopia. The amplitude of the photopic ERGs were decreased but the scotopic ERGs were normal in the younger brother of the proband. The scotopic and photopic ERGs of the proband and her mother were normal. Conclusion Patients with dominant drusen in combinnation with high hypermetropic refractive error and amblyopia may occur.
The pachychoroid spectrum disorders (PSD) refers to a group of clinical disorders characterized by common features of pathological choroidal thickening and potential pathogenic mechanisms. The pathological mechanism of PSD is very complex, and the theory of venous overload provides valuable research directions. The multimodal imaging technology represented by optical coherence tomography angiography has continuously evolved to provide clear and three-dimensional images of the fundus, making it easier to diagnose and monitor PSD at an early stage. There is no unified consensus on how to develop a treatment plan for PSD, and current research has shown that feasible treatments include drug therapy, laser photocoagulation therapy, and photodynamic therapy. However, the evidence of effectiveness and safety provided by these studies is still not sufficient. Surgery and integrative Chinese and Western medicine may provide new prospects for the treatment of PSD. In the future, it is necessary to further develop reasonable research programs, expand the sample size, strengthen follow-up observation, and provide more safe and effective treatment programs for patients.