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Diabetic Retinopathy01:27

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DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...
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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.

Ophthalmic Genetics
|May 4, 2026
PubMed
Summary

MERTK-associated retinal dystrophy is a severe inherited eye disease. Patients experience rapid vision loss, legal blindness by age 39, and early onset of symptoms like night blindness.

Keywords:
MERTKRetinitis pigmentosainherited retinal dystrophynatural historyrod-cone dystrophy

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Dystrophies

Background:

  • MERTK-associated retinal dystrophy is a rare genetic disorder.
  • Understanding its clinical spectrum and natural history is crucial for patient management.

Purpose of the Study:

  • To analyze the clinical spectrum and natural history of MERTK-associated retinal dystrophy.

Main Methods:

  • Retrospective analysis of clinical data and retinal imaging from molecularly-confirmed MERTK patients.
  • Key outcome measures included age of onset, visual acuity, and retinal structural parameters.

Main Results:

  • Twenty-five patients with 30 MERTK variants (6 novel) were identified.
  • Symptom onset before age 16, with nyctalopia as the primary symptom.
  • Rapid structural progression observed, leading to legal blindness by age 39.

Conclusions:

  • MERTK-associated retinal dystrophy is a severe condition with rapid progression.
  • Further prospective studies are needed to standardize evaluation and assess functional impact.