ABSTRACT
Purpose@#To report a case of autosomal dominant drusen confirmed by molecular genetic testing and the clinical features and findings of a multimodal diagnostic imaging study.Case summary: A 32-year-old male presented with decreased visual acuity in his right eye from 1 year prior to his first visit. On the first visit, his visual acuities were 0.3 in the right eye and 1.2 in the left eye. A fundus examination showed numerous drusen of various sizes widely distributed on the posterior pole of both eyes, as well as subretinal fibrotic change with pigmentation in the right eye. Optical coherence tomography showed extensive hyperreflective deposits beneath the retinal pigment epithelium in both eyes and small amounts of cystic intraretinal fluid in the right eye. Fluorescein angiography and fundus autofluorescence showed the drusen as multiple hyperfluorescent spots, while indocyanine green angiography indicated hypofluorescence corresponding to the drusen. Genetic sequence analysis revealed a pathogenic variant of the EFEMP1 gene, heterozygous c.1033C>T (p.Arg345Trp), which accords with the diagnosis of autosomal dominant drusen. Intravitreal bevacizumab injection was given in the right eye; however, there was no improvement in the amount of intraretinal fluid nor visual acuity. @*Conclusions@#Autosomal dominant drusen is a very rare disease. It is necessary to distinguish it from age-related macular degeneration, as the affected age and clinical features of drusen are different, including the response to anti-vascular endothelial growth factor treatment.
ABSTRACT
Purpose@#To evaluate the agreement in ocular biometry outcomes measured by three different devices, the IOL Master 500, IOL Master 700, and Lenstar LS900, and compare the refractive outcomes after cataract surgery obtained using those three devices. @*Methods@#Medical records of 178 eyes of 89 patients who underwent ocular biometry with the three devices were retrospectively reviewed, and 124 eyes met the inclusion criteria. Paired comparisons were performed for axial length (AL), mean keratometry (Km), and anterior chamber depth and quantified their agreement using Bland-Altman plots. Subgroup analyses were done according to the AL and the Km. Refractive outcomes were compared with respect to absolute prediction errors after cataract surgery in 54 eyes. @*Results@#Among 124 eyes, 12, 3, and 5 eyes failed to be measured of AL by IOL Master 500, IOL Master 700 and Lenstar LS900, respectively. The AL measured by Lenstar LS900 was longer than that measured by IOL Master 500 and IOL Master 700 (p 25.5 mm). Km measured using the IOL Master 500 was steeper than that measured with the IOL Master 700 or Lenstar LS900 (p = 0.001,p < 0.001, respectively). anterior chamber depth measured by IOL Master 500 was shallower than that measured by IOL Master 700 or Lenstar LS900 (p < 0.001, p < 0.001, respectively). Ocular biometry measurements by the three devices showed high agreement with narrow 95% limits of agreement. Absolute prediction errors from the 3 devices showed no statistically significant differences after cataract surgery. @*Conclusions@#The IOL Master 700 and Lenstar LS900 demonstrated superior acquisition rates of biometric measurements compared with the IOL Master 500. Ocular biometry using the 3 different devices showed high agreement, although statistically significant differences were observed; however, since there was no difference in predicting the refractive outcomes, those differences are clinically negligible.