Purpose: To report multimodal imaging findings and molecular genetic results in a patient with multifocal pattern dystrophy simulating fundus flavimaculatus, which is a rare inherited retinal disease in Japan.
Case: A 46-year-old female patient who neither had any subjective symptoms nor a family history was referred for bilateral fundus abnormalities. Decimal best corrected visual acuity was 1.2 in each eye. Fundus findings revealed numerous yellow-white flecks with hyperautofluorescence scattered in the areas from around the macula to the vascular arcades, and in the peripapillary area. Fluorescein angiography showed the presence of hyperfluorescent lesions on the early to late angiography phases, but no dark choroid finding. There was neither retinal degeneration nor retinal vessel attenuation. Optical coherence tomography showed the presence of a clear ellipsoid zone (EZ) throughout the macula, without macular atrophy, and some flecks were observed to extend from the retinal pigment epithelium internally through the EZ. Goldmann perimeter testing showed normal visual fields in both eyes. Full-field electroretinograms revealed normal amplitudes of both rod and cone responses. In whole-exome sequencing, no pathogenic variant was identified in genes such as peripherin-2 (PRPH2) and ATP-binding cassette, sub-family A, member 4 (ABCA4), as well as in others related to inherited retinal diseases.
Conclusions: Aside from macular sparing, the multimodal imaging findings were similar to those of PRPH2-related multifocal pattern dystrophy simulating fundus flavimaculatus. Although no pathogenic gene variant was identified, the possibility of gene variants other than PRPH2 being responsible for this condition cannot be denied.
Nippon Ganka Gakkai Zasshi (J Jpn Ophthalmol Soc) 126: 588-595,2022.