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Related Experiment Video

Updated: Sep 27, 2025

A Rat Model of Mild Intrauterine Hypoperfusion with Microcoil Stenosis

A Rat Model of Mild Intrauterine Hypoperfusion with Microcoil Stenosis

Published on: January 7, 2018

Coats plus in prematurity.

Ashley López-Cañizares¹, Maria P Fernandez¹, Hasenin Al-Khersan¹

¹Bascom Palmer Eye Institute.

Ophthalmic Genetics

|April 13, 2022

Summary

This summary is machine-generated.

Coats Plus syndrome, a rare genetic disorder, presents with varied symptoms and retinal issues. Early diagnosis and treatment, including laser photocoagulation and bevacizumab, significantly improve outcomes.

Keywords:

CTC1 mutation Coats plus syndrome cerebroretinal microangiopathy with calcifications and cysts coats disease leukodystrophy retinopathy of prematurity

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Last Updated: Sep 27, 2025

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Transcutaneous Microcirculatory Imaging in Preterm Neonates

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Published on: December 31, 2015

Area of Science:

Genetics
Ophthalmology
Neurology

Background:

Coats Plus syndrome (cerebroretinal microangiopathy with calcifications and cysts) is a rare, autosomal recessive disorder.
It affects microvasculature in the retina, brain, bones, and GI system, differing from Coats disease by its bilateral nature and multi-system involvement.

Observation:

A case report details two brothers with Coats Plus syndrome exhibiting variable phenotypes.
One sibling initially misdiagnosed with retinopathy of prematurity, the other presented with seizures and tremors.
Genetic confirmation of a CTC1 mutation was achieved in both patients.

Findings:

Variable phenotypic expression is characteristic of Coats Plus syndrome.
Aggressive treatment involving laser photocoagulation and intravitreal bevacizumab led to dramatic improvement in retinal vascular and exudative changes.

Implications:

Coats Plus syndrome should be considered in the differential diagnosis for atypical retinal pathologies.
Consideration is advised for conditions like retinopathy of prematurity, familial exudative vitreoretinopathy, or Coats disease with systemic abnormalities.