Pattern dystrophy-like changes (PD) (52 eyes of 26 patients, 83.8%) and atrophy resembling the "diffuse trickling" pattern described in geographic atrophy were present in the majority of patients. Twenty-three eyes of 12 patients (67.6%) had peripapillary atrophy, 9 eyes of 5 patients (26.4...
Optical coherence tomography (OCT) demonstrated focal thickening of the RPE, called bumps, and the inner segment/outer segment interface was disrupted. FAF and OCT were useful in visualizing reticular pattern lesions and in localizing retinal deposits in a patient with reticular pattern dystrophy of ...
The age of presentation of visual disturbances in both patients is the 5th and 6th decade of life respectively, which also favors the diagnosis of an adult onset macular dystrophy. However, exclusion of possible genetic defects would further support the conclusion of an acquired pattern dystrophy ...
A middle-aged female with butterfly pattern dystrophy, who presented with progressive loss of vision, was examined using coloured fundus photographs, short wave autofluorescence, swept source optical coherence tomography (SS-OCT), fundus fluorescein angiography and enface optical coherence tomography. ...
Management of acute hydrops with perforation in a patient with keratoconus and cone dystrophy: case report and literature review. To describe a patient with cone dystrophy who presented with acute hydrops and perforation, leading to the diagnosis of keratoconus. Case report and litera... S Yeh,JA...
Mutations of the FHL1 Gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2009;85(3):338–53. 9. Li H-H, et al. Adeno-associated virus vector carrying human minidystrophin gene SMCKA3999 effectively ameliorates dystrophic pathology in mdx model mice. Zhonghua Yi Xue Za Zhi. ...
OCT = optical coherence tomography, OCTA = optical coherence tomography angiography, OU = oculus uterque, both eyes, PD = pattern dystrophy, PDSFF = pattern dystrophy simulating fundus flavimaculatus, PDT = photodynamic therapy, PRPH2 = peripherine-2, RE = right eye, RPE = retinal pigment ep...
One month after the second injection the OCT was flat and the patient had no symptoms. The results of RDS screening will be presented at the meeting. Conclusion: We present a family with pattern dystrophy, with some members having an unusual fund...
Methods Consecutive patients with reticular pattern dystrophy underwent a complete ophthalmologic examination, including assessment of best-corrected visual acuity (BCVA), fundus biomicroscopy, and SD-OCT (Spectralis SD-OCT, Heidelberg Engineering). Outer retinal and RPE macular features, as evaluated by ...
However, both the lack of macular oedema on OCT and the short term use of the drug limit the possibility of drug toxicity. Moreover, the atrophic macular changes on OCT and FAF in correlation with the VF and mERG findings are consistent with the diagnosis of pattern dystrophy. In ...