Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies.

Autor:	Mishra AV; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom., Vermeirsch S; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom., Lin S; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Martin-Gutierrez MP; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom., Simcoe M; UCL Institute of Ophthalmology, University College London, London, United Kingdom.; Section of Ophthalmology, King's College London, St. Thomas' Hospital Campus, London, United Kingdom., Pontikos N; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Schiff E; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, London, United Kingdom., de Guimarães TAC; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Hysi PG; Section of Ophthalmology, King's College London, St. Thomas' Hospital Campus, London, United Kingdom., Michaelides M; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Arno G; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, London, United Kingdom.; North East Thames Regional Genetics Service, Great Ormond Street Institute of Child Health, London, United Kingdom., Webster AR; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Mahroo OA; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, London, United Kingdom.; Section of Ophthalmology, King's College London, St. Thomas' Hospital Campus, London, United Kingdom.; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, United Kingdom.
Jazyk:	angličtina
Zdroj:	Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 May 01; Vol. 65 (5), pp. 9.
DOI:	10.1167/iovs.65.5.9
Abstrakt:	Purpose: We sought to explore whether sex imbalances are discernible in several autosomally inherited macular dystrophies. Methods: We searched the electronic patient records of our large inherited retinal disease cohort, quantifying numbers of males and females with the more common (non-ABCA4) inherited macular dystrophies (associated with BEST1, EFEMP1, PROM1, PRPH2, RP1L1, and TIMP3). BEST1 cases were subdivided into typical autosomal dominant and recessive disease. For PRPH2, only patients with variants at codons 172 or 142 were included. Recessive PROM1 and recessive RP1L1 cases were excluded because these variants give a more widespread or peripheral degeneration. The proportion of females was calculated for each condition; two-tailed binomial testing was performed. Where a significant imbalance was found, previously published cohorts were also explored. Results: Of 325 patients included, numbers for BEST1, EFEMP1, PROM1, PRPH2, RP1L1, and TIMP3 were 152, 35, 30, 50, 14, and 44, respectively. For autosomal dominant Best disease (n = 115), there were fewer females (38%; 95% confidence interval [CI], 29-48%; P = 0.015). For EFEMP1-associated disease (n = 35), there were significantly more females (77%; 95% CI, 60%-90%; P = 0.0019). No significant imbalances were seen for the other genes. When pooling our cohort with previous large dominant Best disease cohorts, the proportion of females was 37% (95% CI, 31%-43%; P = 1.2 × 10-5). Pooling previously published EFEMP1-cases with ours yielded an overall female proportion of 62% (95% CI, 54%-69%; P = 0.0023). Conclusions: This exploratory study found significant sex imbalances in two autosomal macular dystrophies, suggesting that sex could be a modifier. Our findings invite replication in further cohorts and the investigation of potential mechanisms.
Databáze:	MEDLINE
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