Related Experiment Video

Updated: Sep 27, 2025

A Rat Model of Mild Intrauterine Hypoperfusion with Microcoil Stenosis
06:19

A Rat Model of Mild Intrauterine Hypoperfusion with Microcoil Stenosis

Published on: January 7, 2018

10.5K

Coats plus in prematurity

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

  • 1Bascom Palmer Eye Institute.

Ophthalmic Genetics
|April 13, 2022
PubMed

Insights

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.

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.
Abstract

Keywords:
CTC1 mutationCoats plus syndromecerebroretinal microangiopathy with calcifications and cystscoats diseaseleukodystrophyretinopathy of prematurity

More Related Videos

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats07:36

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on: November 20, 2015

11.5K
Transcutaneous Microcirculatory Imaging in Preterm Neonates06:27

Transcutaneous Microcirculatory Imaging in Preterm Neonates

Published on: December 31, 2015

8.3K

Related Concept Videos

Fetal Circulation01:14

Fetal Circulation

Fetal circulation is a unique system that facilitates the exchange of gases, nutrients, and waste products between the developing fetus and the mother. This intricate process takes place through a special organ called the placenta.
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
1.5K
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.3K
Coat Assembly and GTPases01:33

Coat Assembly and GTPases

Vesicles incorporate different coat protein subunits in different cell locations, which changes the properties of the coat, such as the shape and geometry of the transport vesicles. Thus, vesicle coat proteins also play a significant role in cargo selection.
Coat assembly depends on the local availability of phosphatidylinositol phosphates or PIPs and GTP-binding proteins. Adaptor proteins, which link the coat proteins to the membrane, bind to these PIPs and play a crucial role in controlling...
3.7K
COP Coated Vesicles00:59

COP Coated Vesicles

Membrane-enclosed structures called vesicles transport proteins and lipids across the cell. The vesicles derive their cargo from the plasma membrane, Golgi, ER, or endosome. Coated vesicles are spherical, protein-coated carriers with a 50–100 nm diameter that mediate bidirectional transport between the ER and the Golgi. The distribution of proteins between the ER and Golgi complex is dynamic and is maintained by different coated vesicles. Their formation is driven by the assembly of...
10.4K
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
55.5K
Epistasis01:39

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
47.9K