Peripheral pigmented lesions in ABCA4-associated retinopathy
Haya H Al-Ani1,2, Leo Sheck1, Andrea L Vincent1,2
1Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.
Ophthalmic Genetics
|March 12, 2021
Summary
Peripheral pigmented retinal lesions are found in nearly one-fifth of patients with ABCA4-associated retinopathy. These lesions indicate more severe disease with earlier onset, aiding in diagnosis.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- ABCA4 gene variants are associated with retinal dystrophies.
- Peripheral retinal lesions are not well-characterized in ABCA4-associated retinopathy.
- Understanding these lesions can aid in diagnosis and disease assessment.
Purpose of the Study:
- To determine the prevalence and characteristics of peripheral pigmented retinal lesions in patients with ABCA4 gene variants.
- To investigate associated clinical and genetic findings.
- To compare findings with RDS/PRPH2 cohort and controls.
Main Methods:
- Retrospective review of patient records at a tertiary hospital.
- Wide-field retinal imaging to identify peripheral pigmented retinal lesions.
- Comparison with ABCA4-associated disease, RDS/PRPH2 cohort, and age-matched controls.
Main Results:
- 16.5% of ABCA4 patients (15/91) had peripheral pigmented retinal lesions.
- Lesions were flat, subretinal, well-defined, and located in the mid- to far periphery.
- ABCA4 variants associated with lesions linked to earlier onset and more severe disease compared to those without lesions.
Conclusions:
- Peripheral pigmented retinal lesions are present in a significant minority of ABCA4-associated retinopathy cases.
- These lesions are associated with a more severe phenotype and earlier disease onset.
- Identification of these lesions can assist in the diagnosis of ABCA4-related retinal dystrophy.
