How rare is Coats plus syndrome?

Coats plus syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Coats plus syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Coats plus syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Coats plus syndrome?

Coats plus syndrome can lead to several complications. These include problems with vision due to abnormal blood vessel growth in the retina, which can cause fluid leakage. Additionally, there may be neurological issues from brain calcifications and changes in white matter, as well as weakened bones that are more likely to fracture.

How does Coats plus syndrome affect daily life?

Living with Coats plus syndrome can be challenging due to its various symptoms. People may experience vision problems that affect their daily activities, and they might also deal with the risk of fractures from weaker bones. Managing gastrointestinal issues and monitoring brain health are also important parts of daily life for those with this condition.

What is the prognosis for someone with Coats plus syndrome?

Currently, there is limited information about the long-term prognosis for individuals with Coats plus syndrome. The condition affects multiple systems in the body, which can lead to varying outcomes. Regular monitoring and management of symptoms are essential to help improve quality of life.

What specialists should be involved in the care of someone with Coats plus syndrome?

Individuals with Coats plus syndrome may benefit from a team of specialists. An eye doctor (ophthalmologist) is important for managing vision issues, while a neurologist can help with brain-related symptoms. Additionally, a hematologist may be needed for blood-related concerns, and an orthopedic specialist can assist with bone health.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

Coats plus syndrome (CRMCC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Coats plus syndrome

MONDO:0012815

Also known as:CRMCCcerebroretinal microangiopathy with calcfications and cystscerebroretinal microangiopathy with calcifications and cysts

Overview

Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

POT1 tumor predisposition (POT1-TPD) is associated with an increased risk for multiple cutaneous melanomas, sarcomas (particularly cardiac angiosarcomas), chronic lymphocytic leukemia (CLL), and gliomas. Additional cancers have been reported in individuals with a germline POT1 pathogenic variant. However, due to limited data it is unclear if these cancers are specifically associated with POT1 germline pathogenic variants. The general experience, however, is that there is a great diversity of tumor types within and between families. Cutaneous melanoma is the most commonly reported malignancy in individuals with POT1-TPD. The age of onset for first primary cutaneous melanoma ranges from 15 to 80 years .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for POT1 tumor predisposition (POT1-TPD) have been published.

Suggestive Findings

POT1-TPD should be suspected in an individual with the following:

Multiple cutaneous melanomas
One of the POT1-TPD core cancers and a first- or second-degree relative with a confirmed POT1-TPD core cancer. POT1-TPD core cancers include cutaneous melanoma, sarcoma, chronic lymphocytic leukemia, and glioma.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Coats plus syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for POT1 tumor predisposition syndrome (POT1-TPD) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with POT1-TPD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. The majority of POT1-associated cancers are diagnosed in adulthood. Therefore, screening should generally begin at age 18 years (see .)

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

There are no published guidelines for surveillance for individuals with POT1-TPD. Decisions regarding individual surveillance protocols should be based on the emerging phenotypic spectrum of POT1-TPD, as well as the affected individual's personal and family history. In addition, individuals should be educated regarding general signs and symptoms of malignant diseases and advised to seek medical attention with any concerning findings. Due to the similarity to Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome with tumors in multiple organ systems in certain families, it seems appropriate to employ screening similar to that used in LFS. Table 4. POT1 Tumor Predisposition: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Coats plus syndrome.

15 publications have been identified in PubMed for Coats plus syndrome. Research spans Case Report / Case Series (53%), Basic Science / Preclinical (20%), and Gene Therapy / Novel Therapeutics (13%).

Research Type	Count	% of Total
Patient case studies	8	53%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:313838

GARD

Genetic and Rare Diseases Info Center

GARD:17412

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Coats plus syndrome

Coats plus syndrome is a multisystem disorder that affects several parts of the body. People with this condition may have problems with the eyes, brain, bones, and blood formation. The condition is known for causing abnormal blood vessel growth in the retina, which can lead to leakage of fluid (exudates) and other changes in the eye. It is also marked by changes in the brain, including areas of calcification (hard deposits), white matter changes (leukoencephalopathy), and cysts. In addition to its effects on the eyes and brain, Coats plus syndrome can also lead to weaker bones (osteopenia) that may be prone to fractures, suppression of the bone marrow that reduces blood cell production, and even gastrointestinal issues such as bleeding and increased pressure in the portal vein (portal hypertension).

Common symptoms of Coats plus syndrome include eye problems such as retinal telangiectasia and exudates, which can affect vision. Neurologically, there may be calcifications in the brain, changes in white matter, and cysts that can affect brain function. Additionally, there is a predisposition to bone fractures due to decreased bone density, as well as issues related to bone marrow suppression and gastrointestinal bleeding along with portal hypertension.

Coats plus syndrome is caused by a genetic change passed down in an autosomal recessive pattern. This means that two copies of the altered gene, one from each parent, are needed for the condition to develop. The disorder affects many systems in the body, leading to the range of symptoms that are seen in people with this condition. Associated genes include STN1, POT1, CTC1.

← Back to All Diseases

System/Concern	Evaluation	Frequency1
melanoma	Dermatologic exam	At least every 6 mos beginning at age 18 yrs w/excision of any lesions suspicious for melanoma; Consider every 3 mos in persons w/multiple atypical nevi, history of melanoma, /or family history of melanoma.; Encourage monthly self-exam. Sarcoma
(incl cardiac breast angiosarcoma)	Whole-body MRI	Annually beginning at age 18 yrs; Consider earlier depending on personal family history of non-cutaneous, non-brain malignancies. Chronic lymphocytic
leukemia	CBC w/differential	Annually beginning at age 18 yrs Comprehensive physical exam incl lymph nodes
(glioma)	Consider brain MRI.2	Every 1-2 years depending on family history beginning at age 18 yrs A history of early-onset cancer in the family may warrant predictive testing prior to age 18 years.

Kisho

Coats plus syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Establishing the Diagnosis

Differential Diagnosis

Cutaneous melanoma

BRCA2

CDKN2A

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Coats plus syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Coats plus syndrome?

What are the symptoms of Coats plus syndrome?

What causes Coats plus syndrome?

How rare is Coats plus syndrome?

How is Coats plus syndrome diagnosed?

Are there treatments for Coats plus syndrome?

What complications can arise from Coats plus syndrome?

How does Coats plus syndrome affect daily life?

What is the prognosis for someone with Coats plus syndrome?

What specialists should be involved in the care of someone with Coats plus syndrome?

Establishing the Diagnosis

Differential Diagnosis

Cutaneous melanoma

BRCA2

CDKN2A

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications