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Author Spotlight: Unraveling the Pathogenesis of Age-Related Macular Degeneration and Discovering Potential Therapies

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Published on: July 28, 2023

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

This summary is machine-generated.

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.

Keywords:

Autosomal dominant LORD Late-onset retinal degeneration

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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.