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cerebroretinal microangiopathy with calcifications and cysts 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Hemiplegia, Dystonia, Seizure
Bones and joints	8	Short femoral neck, Weak and brittle bones (osteoporosis), Mild bone density loss (osteopenia)
Skin	5	Nail dysplasia, Retinal telangiectasia, Gastrointestinal telangiectasia
Blood and immune system	4	Intestinal bleeding, Low red blood cell count (anemia), Oral leukoplakia
Eyes	4	Blindness, Retinal telangiectasia, Damage to the optic nerve (optic atrophy)
Growth and development	3	Short stature, Postnatal growth retardation, Intrauterine growth retardation
Digestive system	2	Intestinal bleeding, Gastrointestinal telangiectasia
Muscles	1	Damage to the optic nerve (optic atrophy)
Lungs and breathing	1	Lung scarring (pulmonary fibrosis)

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

Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding [, , , , , ]. The criteria for classic DC were described by ; see . Note, however, that individuals may develop features of a DC/TBD at variable rates and ages, which can make proper diagnosis challenging.

Suggestive Findings

A telomere biology disorder (TBD), including dyskeratosis congenita (DC), should be suspected in individuals with the following clinical findings. Physical characteristics. One of the following:

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

GeneReviews

Differential Diagnosis

Disorders with clinical features that overlap those of dyskeratosis congenita and related telomere biology disorders (DC/TBD) are described below. Disorders with Nail Dysplasia Table 3. Disorders with Nail Dysplasia in the Differential Diagnosis of Dyskeratosis Congenita and Related Telomere Biology Disorders (DC/TBD)

Gene	Disorder	MOI	Clinical Characteristics	Comment
FZD6	Twenty-nail dystrophy (OMIM 161050)	AR	Onychauxis, hyponychia, onycholysis

Genetic testing for CTC1 is available. Testing is considered confirmatory for diagnosis.

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 cerebroretinal microangiopathy with calcifications and cysts 1. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with dyskeratosis congenita (DC) or a related telomere biology disorder (TBD), it is important to note that the clinical spectrum of DC/TCB is broad and signs and symptoms develop at various ages and rates. The evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Dyskeratosis Congenita and Related Telomere Biology Disorders (DC/TBD)

System/Concern	Evaluation	Comment
Dermatologic	Thorough skin nail exam	—
Dental	Baseline eval for oral hygiene, leukoplakia, oral squamous cell cancer	—
Otolaryngologic	Baseline eval for leukoplakia squamous cell head/neck cancer	Growth
development	Clinical assessment	—
Ophthalmic	Thorough exam for complications related to lacrimal duct stenosis, abnormal eyelash growth, retinal disorders incl exudative retinopathy	Gastrointestinal

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

GeneReviews

Clinical Guidance

Blood transfusions

Transfusions of red cells or platelets should be avoided or minimized for those who are candidates for hematopoietic cell transplantation (HCT).
To minimize the chances of sensitization, family members must not act as blood donors if HCT is being considered.
All blood products should be leukodepleted and irradiated.

Radiation. It is prudent to minimize exposure to therapeutic radiation as data on radiation side effects are limited. Androgens and growth factors. The combination of androgens and granulocyte colony-stimulating factor was associated with splenic peliosis ("blood lakes") and rupture in two individuals; thus, the combination should be avoided . Cancer prevention. Given the increased susceptibility of individuals with DC/TBD to developing leukemias and other malignancies, individuals with DC/TBD are advised to avoid toxic agents that have been implicated in tumorigenesis (including smoking cigarettes or drinking alcohol), to use sunscreen regularly, and to avoid excessive sun exposure.

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

Clinical Trials

View trials for cerebroretinal microangiopathy with calcifications and cysts 1

Explore Trials

Prognosis

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

GeneReviews

Surveillance Guidelines

The recommendations in this section were discussed at the first DC clinical research workshop in 2008 and updated in 2014 at a consensus conference that led to publication of the first edition of the Dyskeratosis Congenita and Telomere Biology Disorders: Diagnosis and Management Guidelines . Because of the rarity of DC/TBD, the recommendations are not based on large-scale clinical trials. Table 7. Recommended Surveillance for Individuals with Dyskeratosis Congenita and Related Telomere Biology Disorders (DC/TBD)

System/Concern	Evaluation	Frequency
for BMF	CBC	Prior to start; Rpt every 4-6 wks; When counts are stable, rpt every 2-3 mos Liver function tests
Cancer	Self-exam for oral, head, neck cancers	Monthly; Cancer screening by otolaryngologist; Gynecologic exam; Skin cancer screening by dermatologist
Pulmonary fibrosis	PFTs	Annually starting at age 8 yrs (or at diagnosis) Pulmonary arteriovenous
malformations	Bubble echocardiogram	In case of pulmonary symptoms in absence of pulmonary fibrosis Oral dental issues
Immunologic issues	Follow up based on findings at initial eval	At immunologist's discretion Cutaneous

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

Phenotype severity distribution: 2 always present features, 1 very common feature, 4 common features.

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 cerebroretinal microangiopathy with calcifications and cysts 1.

11 publications have been identified in PubMed for cerebroretinal microangiopathy with calcifications and cysts 1. Research spans Case Report / Case Series (64%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Patient case studies	7	64%
Research summaries	2	18%
Laboratory research	1	9%
New treatment approaches	1	9%

Recent Publications

Foley MJ (2026). [PMID: 42196799](https://pubmed.ncbi.nlm.nih.gov/42196799/). *Diagnostics (Basel)*. [Case Report / Case Series]
Gowda VK (2026). [PMID: 41554616](https://pubmed.ncbi.nlm.nih.gov/41554616/). *BMJ case reports*. [Case Report / Case Series]
Zhou H (2026). [PMID: 41575730](https://pubmed.ncbi.nlm.nih.gov/41575730/). *Journal of assisted reproduction and genetics*. [Gene Therapy / Novel Therapeutics]
Ozen F (2026). [PMID: 41387117](https://pubmed.ncbi.nlm.nih.gov/41387117/). *Clinical genetics*. [Case Report / Case Series]
Kojima M (2025). [PMID: 40973993](https://pubmed.ncbi.nlm.nih.gov/40973993/). *Pediatric transplantation*. [Review / Meta-Analysis]
Jiang T (2025). [PMID: 40555664](https://pubmed.ncbi.nlm.nih.gov/40555664/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Review / Meta-Analysis]
Serrão C (2025). [PMID: 40953348](https://pubmed.ncbi.nlm.nih.gov/40953348/). *Neurology*. [Case Report / Case Series]
Kvarnung M (2025). [PMID: 39616267](https://pubmed.ncbi.nlm.nih.gov/39616267/). *European journal of human genetics : EJHG*. [Case Report / Case Series]
Srour L (2025). [PMID: 40440483](https://pubmed.ncbi.nlm.nih.gov/40440483/). *Aging*. [Basic Science / Preclinical]
Chaaya C (2025). [PMID: 40359402](https://pubmed.ncbi.nlm.nih.gov/40359402/). *Ophthalmic surgery, lasers & imaging retina*. [Case Report / Case Series]

Kisho

cerebroretinal microangiopathy with calcifications and cysts 1

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

cerebroretinal microangiopathy with calcifications and cysts 1

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team