Article Dans Une Revue BMJ Open Année : 2022

Phenotype of Coats disease in females

Résumé

Objective To determine whether the clinical presentation of Coats disease differs between males and females. Methods and analysis Records of patients diagnosed with Coats disease at a single institution were retrospectively reviewed. Demographic data, main reason for initial consultation, comprehensive ocular examination at diagnosis and modalities of treatments during the follow-up were recorded. Results Records from 114 patients with Coats disease were analysed. Ninety-eight patients (86%) were male and 16 (14%) female. Mean age at diagnosis was 6.2 years±6.1 in males and 7.4 years±4.7 in females. The main initial reason for consultation was strabismus in males and decreased visual acuity in females. Stage severity at diagnosis was similar in the two groups with half of the patients presenting with stage 2B2 or lower. The extension of peripheral retinal telangiectasia was also similar (mean: 6.2±3.4 and 5.8±4.0, respectively), as was the extension of intraretinal exudation (mean: 5.0±4.5 and 5.8±4.4) and the frequency of a subfoveal nodule at diagnosis (40% vs 30%, respectively). There was no distinction between the number of laser photocoagulation or cryotherapy sessions required for both groups during the follow-up. Conclusions Coats disease presentation does not differ between genders despite being much rarer in females. We propose a pathogenic mechanism accounting for the gender-dependent incidence combined with genderindependent expressivity of Coats disease. How might these results change the focus of research or clinical practice? ► Based on these clinical finding, we propose a pathogenic mechanism accounting for the genderdependent incidence combined to the genderindependent expressivity of Coats disease. Further molecular studies should explore this hypothesis.

Domaines

Organes des sens
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Dates et versions

hal-03566230 , version 1 (11-02-2022)

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Alejandra Daruich, Francis L Munier. Phenotype of Coats disease in females. BMJ Open, 2022, 7 (1), pp.e000883. ⟨10.1136/bmjophth-2021-000883⟩. ⟨hal-03566230⟩
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