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Published on: May 26, 2023
MERTK-associated retinal dystrophy: clinical course and imaging
Thales A C de Guimarães1,2,3,4,5, Juan Romo-Aguas1,2, Nancy Aychoua1,2
1UCL Institute of Ophthalmology, University College London, London, UK.
Purpose:
To analyze the clinical spectrum and natural history of MERTK-associated retinal dystrophy.
Methods:
Clinical data from molecularly-confirmed patients and retinal imaging were extracted from an in-house database. The main outcome measurements were retinal imaging parameters and clinical findings, including age of onset, symptoms, best-corrected visual acuity (BCVA), outer nuclear layer (ONL) thickness, ellipsoid zone width (EZW) and area of definitely decreased autofluorescence (DDAF).
Results:
Twenty-five patients were identified, harboring 30 variants in MERTK, with 6 being novel. The mean (range; ±SD) age of symptom onset was 9.4 years old (±3.4, 4-15), with all being symptomatic before 16 years old. The most common visual symptom at presentation was nyctalopia. The mean BCVA (±SD, range, median) at baseline was 1.2 LogMAR (±0.95, 0.1-3, 0.9) at a mean age of 22.6 years (±11, 6-52, 20); with all patients being legally blind by 39 years of age. Subjects were slightly myopic and 44% of the cohort had early-onset posterior subcapsular cataracts. The rate of EZW and ONL thickness loss, as well as the qualitative changes in retinal imaging, were indicative of a rapid rate of structural progression, suggesting a relatively small window of macular preservation.
Conclusions:
MERTK-associated retinal dystrophy represents a severe form of retinal dystrophy. Further prospective studies are needed for standardization and to evaluate the disease from a functional perspective.
