Coats-like Vasculopathy in Inherited Retinal Disease

Abstract

Purpose

To describe the largest, most phenotypically and genetically diverse cohort of patients with inherited retinal disease (IRD)-related Coats-like vasculopathy (CLV).

Design

Multicentre retrospective cohort study.

Subjects

67 patients with IRD-related CLV

Methods

Review of clinical notes, ophthalmic imaging, and molecular diagnosis from two international centres.

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%; 55% 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 CLV diagnosis was 30.7 ± 16.9 years old (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 oedema/schisis was seen in 26% of the eyes and ERD in 63%. Fifty-four patients (81%) had genetic testing, 40 of whom were molecularly solved. Sixty-six eyes (58%) were observed, 17 (15%) were treated with a single modality, and 30 (27%) had a combined approach. Thirty-five eyes (31%) were 'good responders', 42 (37%) were 'poor responders', 22 (19%) had low vision at baseline and were only observed, and 12 (11%) did not have longitudinal assessment. Twenty-one (62%) observed eyes responded well, versus 14 (33%) treated eyes. Final best-corrected visual acuity (BCVA) was significantly worse than baseline (p 0.002); 40 patients (60%) lost 15 ETDRS letters or more over follow up in one or both eyes, and 21 patients (31%) progressed to more advanced stages of visual impairment.

Conclusions

IRD-related CLV is rare, sporadic, mostly bilateral, no gender predominant, and 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 VA, ERD, CLV changes affecting two or more retinal quadrants, and CRB1-retinopathy may be at higher risk of a poor prognosis.