The edition · Ophthalmology
Atrophy slowed 41% and acuity fell anyway, and two OCT machines that disagree by 65 microns
Two years of real-world pegcetacoplan; a drusen phenotype that predicts which retina loses function; a new EFEMP1 variant causing night blindness rather than central drusen; and a reminder that choroidal thickness is not comparable across devices.
The edition in brief
Seventy-seven eyes of 58 patients completed two years of intravitreal pegcetacoplan for geographic atrophy at one centre, averaging 18 injections at 1.3-month intervals. Among the 49 eyes with pre-treatment annual imaging, the square-root atrophy growth rate fell from 0.33 ± 0.21 mm/year before treatment to 0.19 ± 0.11 mm/year, a 41% reduction (P<0.001), and 71 of 72 eyes maintained or further slowed their growth rate in the second year - while mean visual acuity fell from 63 ± 14 to 55 ± 16 letters (P<0.001). Microperimetry across 37 grid points in 46 eyes with intermediate age-related macular degeneration found ribbon-type reticular pseudodrusen associated with lower baseline retinal sensitivity than lesion-free retina (mean difference 0.72 ± 0.24 dB, P=0.002) while dot-type was not, and regions carrying both ribbon-type pseudodrusen and soft drusen declined fastest (interaction P=0.005). A multi-institutional series across three families identified EFEMP1 p.Arg140Trp as a cause of late-onset, predominantly peripheral rod degeneration distinct from Doyne honeycomb dystrophy, with four of five at-risk relatives showing delayed dark adaptation despite 20/20 acuity and normal fundi. In 182 Korean patients with biallelic USH2A variants, c.2802T>G accounted for 23.6% of alleles and was present in 45.1% of patients, while the European hotspot variants were absent entirely. And in 97 highly myopic adults, two swept-source OCT devices differed by 61 to 71 µm in choroidal thickness using vendor software (intraclass correlation 0.63), a discrepancy that fell to 2.26 µm with a common deep learning segmentation model (0.98).
Pegcetacoplan slowed atrophy by 41% over two years, and vision still declined by eight letters
Two years of real-world data confirm pegcetacoplan slows the lesion and not the vision loss - so the conversation is about anatomy, monthly injections and an uncertain functional payoff.
Ribbon-type pseudodrusen with soft drusen marked the retina that lost sensitivity fastest
Record the pseudodrusen subtype alongside soft drusen when you image intermediate macular degeneration - the combination of ribbon-type and soft drusen marked the retina losing sensitivity fastest.
A second EFEMP1 variant causes night blindness from the periphery inwards
Adult-onset night blindness with peripheral chorioretinal atrophy should prompt genetic testing including EFEMP1 - and an at-risk relative with normal fundi and 20/20 vision can still be affected.
The European USH2A hotspots were entirely absent from a Korean cohort
Test the whole gene rather than the European hotspots when investigating suspected USH2A disease in a non-European patient - in this Korean cohort the hotspot variants were entirely absent.
Measure the same eye on the same machine
Record the device and software version with every serial measurement, and re-scan before acting on a surprising change - most of them are the machine, not the eye.
Two swept-source OCT machines disagreed on choroidal thickness by 65 microns
Compare choroidal thickness only within the same device and software - two swept-source machines differed by 61 to 71 µm on the same eyes, which is larger than any change you would act on.
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