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Phenotype of Coats disease in females
Alejandra Daruich1, Francis L Munier2
1Ophthalmology Department, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris, Paris. INSERM, Centre de Recherche des Cordeliers, Team 17, Paris, France.
Insights
Coats disease presentation is similar in males and females, though it is rarer in females. This study investigates the gender-independent expressivity of Coats disease.
Area of Science:
- Ophthalmology
- Pediatric Ophthalmology
- Genetics
Background:
- Coats disease is a rare condition characterized by abnormal blood vessel development in the retina.
- While incidence varies by gender, clinical presentation differences have not been well-established.
Purpose of the Study:
- To investigate potential differences in the clinical presentation of Coats disease between male and female patients.
- To explore the underlying mechanisms for gender-dependent incidence and gender-independent expressivity.
Main Methods:
- Retrospective review of 114 patients diagnosed with Coats disease.
- Analysis of demographic data, presenting symptoms, ocular examination findings, and treatment modalities.
- Comparison of clinical features between male and female patient cohorts.
Main Results:
- Coats disease was diagnosed in 86% males and 14% females, with similar mean ages at diagnosis.
- Presenting symptoms varied, with strabismus more common in males and decreased visual acuity in females.
- Disease severity, retinal telangiectasia, intraretinal exudation, and subfoveal nodule frequency were comparable between genders.
- Treatment requirements, including laser photocoagulation and cryotherapy, did not differ significantly.
Conclusions:
- Clinical presentation of Coats disease is similar in both males and females.
- A pathogenic mechanism is proposed to explain the observed gender-dependent incidence and gender-independent expressivity.
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 gender-independent expressivity of Coats disease.
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