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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Research

Background:

  • Pathogenic variants in the RP1L1 gene are linked to retinal disorders such as autosomal dominant occult macular dystrophy (OMD) and autosomal recessive retinitis pigmentosa (RP).
  • Understanding the full spectrum of RP1L1-associated retinopathy is crucial for diagnosis and management.

Purpose of the Study:

  • To investigate the phenotypic and genotypic spectrum of RP1L1-associated retinopathy in a diverse cohort.
  • To analyze clinical presentations, including OMD and RP, and atypical cases.

Main Methods:

  • A multicenter, retrospective cohort study involving 20 patients from 19 families.
  • Clinical data collected included best-corrected visual acuity (BCVA), fundus photography, OCT, SW-AF, and ffERG.
  • Patients were phenotypically classified into OMD or RP, with atypical cases analyzed separately.

Main Results:

  • The cohort included 12 patients with OMD (60%), 4 with RP (20%), and 4 atypical cases (20%).
  • Autosomal dominant OMD was most common; autosomal recessive RP showed later onset and better visual acuity.
  • OMD demonstrated a BCVA decline of approximately 0.5 lines/year over 3.2 years of follow-up.

Conclusions:

  • Mutations in RP1L1 are responsible for a range of retinal diseases, including autosomal dominant and recessive OMD, and autosomal recessive rod-cone dystrophies.
  • These conditions can occasionally present with pseudovitelliform maculopathy.
  • The study highlights the diverse clinical manifestations of RP1L1-related retinopathies.