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Updated: Jan 31, 2026

A Simple and Low-cost Assay for Measuring Ambulation in Mouse Models of Muscular Dystrophy

A Simple and Low-cost Assay for Measuring Ambulation in Mouse Models of Muscular Dystrophy

Published on: December 29, 2017

North Carolina Macular Dystrophy.

Stephen H Tsang^1,2, Tarun Sharma³

¹Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Advances in Experimental Medicine and Biology

|December 23, 2018

Summary

This summary is machine-generated.

North Carolina macular dystrophy (NCMD) presents with variable infant fundus lesions, progressing to retinal pigment epithelial atrophy and coloboma-like or toxoplasmosis scar-like changes.

Keywords:

Autosomal dominant North Carolina

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Last Updated: Jan 31, 2026

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Area of Science:

Ophthalmology
Medical Genetics

Background:

North Carolina macular dystrophy (NCMD) is a rare genetic eye condition.
It affects the macula, crucial for central vision.

Purpose of the Study:

To describe the variable clinical presentation and progression of NCMD.
To detail the characteristic fundus findings at different stages.

Main Methods:

Clinical observation of patients with NCMD.
Funduscopic examination to document lesion characteristics.

Main Results:

NCMD typically presents in infancy with yellowish-white macular lesions (grade 1), which can be confluent (grade 2).
Progression involves retinal pigment epithelial (RPE) atrophy.
Advanced stages show excavated lesions resembling coloboma or toxoplasmosis scars with fibrotic rims (grade 3).

Conclusions:

NCMD exhibits a distinct, progressive phenotype.
Characteristic fundus findings aid in diagnosis and staging of NCMD.