Researchers have identified significant sex imbalances in two autosomal macular dystrophies, suggesting sex may act as a modifier for nonABCA4 autosomal macular dystrophies. Results were published in Investigative Ophthalmology & Visual Science. Omar Mahroo, PhD, MA, FRCOphth, and colleagues analyzed a large inherited retinal disease cohort, focusing on common (nonABCA4) inherited macular dystrophies associated with BEST1, EFEMP1, PROM1, PRPH2, RP1L1, and TIMP3. The researchers categorized BEST1 cases into autosomal dominant and recessive. The study included 325 patients. Women were underrepresented in autosomal dominant Best disease (38%; P=0.015), but EFEMP1-associated disease had a higher proportion of women (77%; P=0.0019). No significant imbalances were found for the other genes. Combining their data with previous Best disease cohorts, the researchers found that the proportion of women was 37% P<0.001, and pooling cases yielded a proportion of women of 62% (P=0.0023). According to Dr. Mahroo and colleagues, the results warrant replication in additional cohorts and investigation into potential mechanisms.