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Objective <p>To examine clinical characteristics, genetic associations, and visual outcomes of Coats-like vasculopathy (CLV) in patients with inherited retinal disease (IRD).</p> Methods <p>A literature review of studies published through December 30, 2023, and a cohort analysis of cases from Hadassah Medical Center were conducted. Data from 47 studies (163 patients, 277 eyes) and 10 institutional cases (17 eyes) were analysed using descriptive statistics.</p> Results <p>Two novel CLV-associated genes, <i>LRP5</i> and <i>KIZ</i>, were identified in our cohort. Literature findings showed that 69.9% of cases had bilateral asymmetric CLV, with 38.7% of patients being legally blind at their final assessment. The mean interval between IRD onset and CLV diagnosis was 10.38 ± 10.23 years. While baseline best-corrected visual acuity (BCVA) showed no significant difference between unilateral CLV-affected vs. non-CLV-affected eyes (51.19 vs. 72 ETDRS letters, respectively; p = 0.051), BCVA was significantly different at CLV onset (29.19 vs. 69.12 ETDRS letters, respectively; p &lt; 0.001) and at the final visit (19.93 vs. 63.55 ETDRS letters, respectively; p &lt; 0.001). Visual outcomes were similar across treatment modalities (laser, cryotherapy ± laser).</p> Conclusions <p>CLV in IRD patients demonstrates clinical and genetic heterogeneity, with significant visual impairment regardless of treatment. The discovery of <i>LRP5</i> and <i>KIZ</i> expands the genetic landscape of CLV. The profound and progressive vision loss in CLV-affected eyes underscores the need for early detection and tailored management strategies.</p>

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Coats-like vasculopathy in patients with an inherited retinal disease: a case series and literature review

  • 期刊论文

  • 发表日期：

    2025年4月1日

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  • Neofytos Mavris,
  • Brice Nguedia Vofo,
  • Samer Khateb,
  • Jaime Levy

摘要

Objective

To examine clinical characteristics, genetic associations, and visual outcomes of Coats-like vasculopathy (CLV) in patients with inherited retinal disease (IRD).

Methods

A literature review of studies published through December 30, 2023, and a cohort analysis of cases from Hadassah Medical Center were conducted. Data from 47 studies (163 patients, 277 eyes) and 10 institutional cases (17 eyes) were analysed using descriptive statistics.

Results

Two novel CLV-associated genes, LRP5 and KIZ, were identified in our cohort. Literature findings showed that 69.9% of cases had bilateral asymmetric CLV, with 38.7% of patients being legally blind at their final assessment. The mean interval between IRD onset and CLV diagnosis was 10.38 ± 10.23 years. While baseline best-corrected visual acuity (BCVA) showed no significant difference between unilateral CLV-affected vs. non-CLV-affected eyes (51.19 vs. 72 ETDRS letters, respectively; p = 0.051), BCVA was significantly different at CLV onset (29.19 vs. 69.12 ETDRS letters, respectively; p < 0.001) and at the final visit (19.93 vs. 63.55 ETDRS letters, respectively; p < 0.001). Visual outcomes were similar across treatment modalities (laser, cryotherapy ± laser).

Conclusions

CLV in IRD patients demonstrates clinical and genetic heterogeneity, with significant visual impairment regardless of treatment. The discovery of LRP5 and KIZ expands the genetic landscape of CLV. The profound and progressive vision loss in CLV-affected eyes underscores the need for early detection and tailored management strategies.