Coats-like vasculopathy in inherited retinal disease: prevalence, characteristics, genetics and management

– Authors: Malena Daich Varela et al.
– Journal: Ophthalmology, 2023

Main Points:
– Describing the largest cohort of patients with inherited retinal disease (IRD)-related Coats-like vasculopathy (CLV).
– Multicentre retrospective cohort study.

– 67 patients with IRD-related CLV.
– Data from two international centers.
– Review of clinical notes, ophthalmic imaging, and molecular diagnosis.

– IRD-related CLV prevalence: 0.5%.
– 55% had isolated retinitis pigmentosa (RP).
– 21% had early onset severe retinal dystrophy.
– Other presentations included syndromic RP, sector RP, cone-rod dystrophy, achromatopsia, PAX6-related dystrophy, and X-linked retinoschisis.

**Age at Diagnosis:**
– Mean age of CLV diagnosis: 30.7 ± 16.9 years (ranged from 1 to 83 years).

**Clinical Features:**
– Telangiectasia, exudates, and exudative retinal detachment (ERD) were common.
– Macular edema/schisis in 26% of eyes.
– ERD in 63% of eyes.

**Genetic Testing:**
– 81% of patients had genetic testing.
– 40 patients had a molecular diagnosis.

– 58% of eyes were observed.
– 15% of eyes were treated with a single modality.
– 27% of eyes had a combined approach.

**Response to Treatment:**
– 31% of eyes were ‘good responders’.
– 37% of eyes were ‘poor responders’.
– 19% with low vision only observed.
– 11% lacked longitudinal assessment.
– Better response in observed eyes (62%) compared to treated eyes (33%).

**Visual Acuity:**
– Final best-corrected visual acuity (BCVA) worse than baseline.
– 60% of patients lost 15 ETDRS letters or more during follow-up.
– 31% progressed to more advanced visual impairment stages.

– IRD-related CLV is rare, mostly bilateral, with no gender predominance.
– Occurs in various IRD types at any disease stage.
– Mean onset in the fourth decade of life.
– Poor prognosis associated with decreased initial VA, ERD, CLV changes in multiple retinal quadrants, and CRB1-retinopathy.

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