ObjectiveTo observe the clinical features of nine foveal hypoplasia (FVH) patients in a family. MethodsA retrospective clinical study. In August 2018, nine patients with FVH from a family diagnosed in Qilu Hospital of Shandong University (Qingdao) were included in this study. Detailed medical history of the proband was collected. Best corrected visual acuity (BCVA), slit-lamp, cycloplegic refraction, fundus color photography, optical coherence tomography (OCT) and OCT angiography (OCTA) were performed on the proband. The peripheral venous blood of V7 (family member), the proband and the proband's parents were collected for DNA extraction, and gene detection was performed. ResultsThe proband, a four-year-old girl, had poor vision with BCVA of 0.4 in both eyes. OCT showed absence of foveal pit, absence of outer segment lengthening, absence of outer nuclear layer widening and incursion of inner retinal layers. The proband's mother was 32 years old, and macular foveal reflection was not observed in her eyes. OCT and OCTA examination showed no foveal pit and foveal avascular zone in both eyes. Both eyes of the proband and her mother were diagnosed with Thomas grade 4 FVH. The other seven patients also had no foveal pit, and could be categorized into Thomas grade 3 or 4. No significant pathogenic genes and mutation sites were detected in the proband through whole genome sequencing, and no copy number variation or chromosomal abnormality associated with the phenotype of the proband was detected. After seven months of amblyopia treatment, the proband's BCVA had improved to 0.5 in the right eye and 0.6 in the left eye, while the BCVA did not change after 2 years of follow-up. ConclusionNine FVH patients in this family had no foveal pit with similar OCT images, and their visual acuity was affected from lightly to severely. Early amblyopia training is helpful to improve the visual acuity of child patients.
ObjectiveTo observe the clinical effect of prolonged photodynamic therapy (PDT) irradiation time combined with intravitreal injection of ranibizumab in the treatment of circumscribed choroidal hemangioma (CCH).MethodsA retrospective clinical study. From March 2012 to March 2018, 51 eyes of 51 patients diagnosed in Shenzhen Eye Hospital were included in the study. Among the patients, the tumor of 36 eyes were located in macular area, of 15 eyes were located outside macular area (near center or around optic disc). All patients underwent BCVA, color fundus photography, FFA, ocular B-scan ultrasonography and OCT examinations. The BCVA examination was performed using the international standard visual acuity chart, which was converted into logMAR visual acuity. OCT showed 48 eyes with macular serous retinal detachment. of 36 eyes with tumor located in macular area, the logMAR BCVA was 0.05±0.05, the tumor thickness was 4.5±2.2 mm, the diameter of tumor was 9.7±3.6 mm. Of 15 eyes with tumor located outside macular area, the logMAR BCVA was 0.32±0.15, the tumor thickness was 3.8±1.4 mm, the diameter of tumor was 7.7±1.9 mm. PDT was performed for all eyes with the irradiation time of 123 s. After 48 h, all patients received intravitreal injections of 0.5 mg ranibizumab (0.05 ml). At 1, 3 and 6 months after treatment, the same equipment and methods before treatment were used for related examination. BCVA, subretinal effusion (SRF), tumor leakage and size changes were observed. BCVA, tumor thickness and diameter before and after treatment were compared by t test.ResultsAt 6 months after treatment, the tumor was becoming smaller without scar formation. FFA showed that the blood vessels in the tumor were sparse compared with those before treatment, and the fluorescence leakage domain was reduced. OCT showed 43 eyes of macular serous detachment were treated after the combined treatment. The logMAR BCVA were 0.16±0.15 and 0.55±0.21 of the eyes with tumor located in or outside macular area, respectively. The difference of logMAR BCVA between before and after treatment was significant (t=－2.511, －2.676; P=0.036, 0.040). Both the tumor thickness (t=3.416, 3.055; P=0.011, 0.028) and diameter (t=4.385, 4.171; P=0.002, 0.009) of CCH patients were significantly reduced compared with that before treatment.ConclusionThe tumor of CCH can be reduced by prolonged PDT irradiation time combined with intravitreal injection of ranibizumab.