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Published on: July 28, 2023
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Late-Onset Retinal Degeneration.
Stephen H Tsang1, Tarun Sharma2
1Department of Ophthalmology, Columbia University, New York, NY, USA. sht2@cumc.columbia.edu.
Advances in Experimental Medicine and Biology
|July 30, 2025
Summary
Late-onset retinal degeneration (LORD) causes night blindness in adults, characterized by RPE atrophy and iris defects. Early detection aids in managing this progressive vision impairment.
Area of Science:
- Ophthalmology
- Medical Genetics
- Retinal Diseases
Background:
- Late-onset retinal degeneration (LORD) is a group of inherited retinal diseases.
- Patients typically experience nyctalopia (night blindness) starting in their fifth or sixth decade of life.
Purpose of the Study:
- To describe the clinical presentation and fundus findings in patients with LORD.
- To highlight key ophthalmic features for diagnosis and understanding disease progression.
Main Methods:
- Clinical examination of patients with suspected LORD.
- Funduscopic evaluation to assess retinal pigment epithelium (RPE) and peripheral retina.
- Anterior segment examination to evaluate iris and lens characteristics.
Main Results:
- Patients presented with nyctalopia, typically in the fifth or sixth decade.
- Fundus examination revealed yellowish-white, punctate deposits and progressive RPE atrophy in the mid-periphery and posterior pole.
- Anterior segment findings included elongated zonules, central lens insertion, and iris atrophy causing transillumination defects.
Conclusions:
- LORD is characterized by specific fundus and anterior segment abnormalities.
- The progressive nature of RPE atrophy and associated ocular findings are key diagnostic indicators.
- Understanding these features is crucial for the diagnosis and management of LORD.
