The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy.

PURPOSE: To describe the clinical and genetic findings of patients in the second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD). METHODS: Two patients (a 41-year-old male proband and his third son) underwent comprehensive ophthalmic examinations, including full-field and multifocal electroretinography (ERG). Sanger sequencing was performed to detect an EFEMP1 gene variant (p.Arg345Trp), which was identified as the only causative pathogenic variant. RESULTS: Genetic analysis revealed that both patients carried the heterozygous variant, but the other unaffected family members did not. Although the proband exhibited innumerable radially distributed drusen in both the posterior poles and good visual acuity at initial presentation, bilateral choroidal neovascularization (CNV) developed during the 15-year follow-up. The proband received 15 intravitreal anti-vascular endothelial growth factor (VEGF) injections in the left eye (LE) and two injections in the right eye (RE). At 56 years of age, his decimal best-corrected visual acuity was 0.1 and 1.2 in the LE and RE, respectively. Full-field ERG showed that while the rod and combined responses were within normal amplitudes, the cone and 30-Hz flicker responses had slightly decreased amplitudes. Multifocal ERG revealed attenuated central responses in the LE and decreased temporal responses in the RE. In the 20-year-old son, multifocal ERG showed normal responses in both eyes. CONCLUSION: This is the first report of ML/DHRD in a patient who developed bilateral CNV and received anti-VEGF treatment in both eyes. Although multifocal ERG exhibited worsening of macular function, the generalized photoreceptor function was preserved until middle age.

Factors Related to Superior and Inferior Hemifield Defects in Primary Open-Angle Glaucoma.

PURPOSE: We aimed to investigate factors related to superior and inferior hemifield defects in primary open-angle glaucoma (POAG). METHODS: Sixty-seven subjects with newly diagnosed, untreated POAG underwent optical coherence tomography (OCT) of the disc area, macular ganglion cell complex (mGCC), and circumpapillary retinal nerve fiber layer (cpRNFL) thickness within 6 months of the visual field (VF) test. Based on the VF and OCT results, 40 subjects had a superior and 27 an inferior hemifield defect. Clinical data including visual acuity, refractive error, disc hemorrhage, VF indexes, and medical history were recorded. RESULTS: Average mGCC thickness corresponding to the defective hemifields was thinner in the superior VF defect group than in the inferior VF defect group (P=0.003). Average total deviation (TD) was comparable between the two groups. However, the superior VF defect group had a higher prevalence of defects (P=0.001) and lower TD (P=0.002) within central 5 degrees of VF than the inferior VF defect group. In multivariate regression analyses, the temporal-lower and inferior-temporal cpRNFL thicknesses were significant contributing factors to the inferior mGCC thickness in the superior VF defect group. In the inferior VF defect group, the disc area, family history of glaucoma, and temporal-upper cpRNFL thickness contributed to the superior mGCC thickness. CONCLUSION: The inferior mGCC thickness corresponding to the superior hemifield defect group was significantly thinner than the superior mGCC thickness corresponding to the inferior hemifield defect group. The factors related to the reduction of the corresponding mGCC thickness may differ between superior VF defect and inferior VF defect groups.