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Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management
Malena Daich Varela1, Giovanni Marco Conti2, Samantha Malka3
1Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
Insights
Inherited retinal disease-related Coats-like vasculopathy (CLV) is a rare condition affecting diverse retinal dystrophies. Early visual acuity decrease and exudative retinal detachment indicate a poorer prognosis for this rare disease.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Coats-like vasculopathy (CLV) is a rare condition.
- This study describes the largest cohort of patients with inherited retinal disease (IRD)-related CLV.
- Investigates the phenotypic and genetic diversity within this cohort.
Purpose of the Study:
- To characterize the largest, most phenotypically and genetically diverse cohort of patients with IRD-related CLV.
- To analyze clinical features, genetic basis, and outcomes in IRD-related CLV.
Main Methods:
- Multicenter retrospective cohort study.
- Involved 67 patients with IRD-related CLV.
- Data collected from clinical notes, ophthalmic imaging, and molecular diagnostics from two international centers.
Main Results:
- Prevalence of IRD-related CLV was 0.5%, most commonly associated with retinitis pigmentosa (RP).
- Mean age at diagnosis was 30.7 years; 31% had unilateral CLV.
- Exudative retinal detachment (ERD) was observed in 63% of eyes; 40% of genetically tested patients were molecularly solved.
- Final visual acuity worsened significantly, with 60% losing ≥15 ETDRS letters; 31% progressed to advanced visual impairment.
Conclusions:
- IRD-related CLV is rare, typically bilateral, and can occur across various IRDs.
- Onset is usually in the fourth decade; no gender predominance observed.
- Poor prognosis is associated with decreased initial visual acuity, ERD, extensive CLV, and CRB1-retinopathy.
Purpose:
To describe the largest, most phenotypically and genetically diverse cohort of patients with inherited retinal disease (IRD)-related Coats-like vasculopathy (CLV).
Design:
Multicenter retrospective cohort study.
Participants:
A total of 67 patients with IRD-related CLV.
Methods:
Review of clinical notes, ophthalmic imaging, and molecular diagnosis from 2 international centers.
Main Outcome Measures:
Visual function, retinal imaging, management, and response to treatment were evaluated and correlated.
Results:
The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-onset severe retinal dystrophy, and less frequent presentations were syndromic RP, sector RP, cone-rod dystrophy, achromatopsia, PAX6-related dystrophy, and X-linked retinoschisis. The overall age of patients at CLV diagnosis was 30.7 ± 16.9 years (1-83). Twenty-one patients (31%) had unilateral CLV, and the most common retinal features were telangiectasia, exudates, and exudative retinal detachment (ERD) affecting the inferior and temporal retina. Macular edema/schisis was observed in 26% of the eyes, and ERD was observed in 63% of the eyes. Fifty-four patients (81%) had genetic testing, 40 of whom were molecularly solved. Sixty-six eyes (58%) were observed, 17 eyes (15%) were treated with a single modality, and 30 eyes (27%) had a combined approach. Thirty-five eyes (31%) were "good responders," 42 eyes (37%) were "poor responders," 22 eyes (19%) had low vision at baseline and were only observed, and 12 eyes (11%) did not have longitudinal assessment. Twenty-one observed eyes (62%) responded well versus 14 (33%) treated eyes. Final best-corrected visual acuity was significantly worse than baseline (P = 0.002); 40 patients (60%) lost 15 ETDRS letters or more over follow-up in 1 or both eyes, and 21 patients (31%) progressed to more advanced stages of visual impairment.
Conclusions:
Inherited retinal disease-related CLV is rare, sporadic, and mostly bilateral; there is no gender predominance, and it can occur in diverse types of IRD at any point of the disease, with a mean onset in the fourth decade of life. Patients with IRD-related CLV who have decreased initial visual acuity, ERD, CLV changes affecting 2 or more retinal quadrants, and CRB1-retinopathy may be at higher risk of a poor prognosis.
Financial Disclosure(S):
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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