Duane syndrome - Rare Endocrinology News

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Disease Profile

Duane syndrome

1-5 / 10 000

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

H50.8

Inheritance

In most cases, Duane syndrome is not inherited. The majority of cases of Duane syndrome occur in individuals with no history of the condition in the family.^[1]^[2]

About 10% of people with Duane syndrome have other family members with Duane syndrome. In these families, Duane syndrome is inherited in an autosomal dominant pattern.^[1]^[2] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The variant can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic variant (de novo) and there is no history of this condition in the family.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent.

Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition. This is called reduced penetrance, and has been reported in families with Duane syndrome.

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

Duane anomaly; Duane retraction syndrome; DRS;

Summary

Duane syndrome affects the ability of the eye to move from side to side. Symptoms include restricted movement of eye outward and/or inward and the eyeball may be pulled back into the socket. In addition, the opening of the eye may be narrow. Some people with Duane syndrome develop "lazy eye" (amblyopia), a condition that may cause vision loss in the affected eye. Duane syndrome usually only occurs in one eye, and is not associated with other signs or symptoms. There are three types of Duane syndrome, which vary by which eye movements are most severely restricted. The exact cause of Duane syndrome is unknown. About 10% of cases are inherited in families in an autosomal dominant pattern. Diagnosis of Duane syndrome is based on the symptoms, an eye exam, and imaging studies. Treatment is focused on managing the symptoms, and includes corrective eye glasses and contact lens, and sometimes surgery.^[1]^[2]^[3]^[4]

Symptoms

The following list includes the most common signs and symptoms in people with Duane syndrome. These features may be different from person to person. Some people may have more symptoms than others and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms of Duane syndrome may include:^[1]^[2]

Two eyes that don't line up in the same direction (strabismus)
Limited ability to move the eye from side to side
Retracted eyeball (pulled back into the socket)
Narrow eye opening (narrow palpebral fissures)
Lazy eye (amblyopia)

Duane syndrome is present at birth and infants may have only a limited ability to move the affected eye outward and/or inward. Some people with Duane syndrome are at risk to develop lazy eye and have decreased vision in that eye. People with Duane syndrome may also have unusual head movements. Generally, with treatment, eye movement can be corrected.^[2]^[4]

Duane syndrome has 3 types which vary depending on which type of eye movement is most restricted. In Duane syndrome type 1, eye movement outward is limited. This is the most common type of Duane syndrome. In Duane syndrome type 2, eye movement inward is limited. In Duane syndrome type 3, both outward and inward eye movement are limited.^[1]^[2]

In about 30% of cases, Duane syndrome occurs with other abnormalities or as part of a genetic syndrome.^[1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Oculomotor nerve palsy		0012246
Short palpebral fissure	Short opening between the eyelids	0012745
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
30%-79% of people have these symptoms
Abnormal vertebral segmentation and fusion		0005640
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Blepharophimosis	Narrow opening between the eyelids	0000581
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Low posterior hairline	Low hairline at back of neck	0002162
Sensorineural hearing impairment		0000407
5%-29% of people have these symptoms
Abnormal form of the vertebral bodies		0003312
Abnormal pupil morphology	Abnormality of the pupil Pupillary abnormalities Pupillary abnormality [ more ]	0000615
Abnormality of cardiovascular system morphology		0030680
Absent radius	Missing outer large bone of forearm	0003974
Amblyopia	Lazy eye Wandering eye [ more ]	0000646
Aniridia	Absent iris	0000526
Anorectal anomaly		0012732
Aplasia/Hypoplasia of the thumb	Absent/small thumb Absent/underdeveloped thumb [ more ]	0009601
Blepharospasm	Eyelid spasm Eyelid twitching Involuntary closure of eyelid Spontaneous closure of eyelid [ more ]	0000643
Brachydactyly	Short fingers or toes	0001156
Camptodactyly	Permanent flexion of the finger or toe	0012385
Central heterochromia		0007818
Chorioretinal coloboma	Birth defect that causes a hole in the innermost layer at the back of the eye	0000567
Cleft palate	Cleft roof of mouth	0000175
Ectopic kidney	Abnormal kidney location Displaced kidney [ more ]	0000086
Everted lower lip vermilion	Drooping lower lip Outward turned lower lip [ more ]	0000232
External ear malformation		0008572
Facial asymmetry	Asymmetry of face Crooked face Unsymmetrical face [ more ]	0000324
Global developmental delay		0001263
Hypopigmented skin patches	Patchy loss of skin color	0001053
Hypoplasia of the radius	Underdeveloped outer large forearm bone	0002984
Hypoplastic iris stroma		0007990
Iris coloboma	Cat eye	0000612
Irregular hyperpigmentation		0007400
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Microcornea	Cornea of eye less than 10mm in diameter	0000482
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Narrow internal auditory canal		0011386
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Optic disc hypoplasia		0007766
Patchy hypopigmentation of hair		0011365
Plagiocephaly	Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ]	0001357
Preauricular skin tag		0000384
Preaxial hand polydactyly	Extra thumb	0001177
Ptosis	Drooping upper eyelid	0000508
Seizure		0001250
Short neck	Decreased length of neck	0000470
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Spina bifida occulta		0003298
Stenosis of the external auditory canal	Narrowing of passageway from outer ear to middle ear	0000402
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Triphalangeal thumb	Finger-like thumb	0001199
Webbed neck	Neck webbing	0000465
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431

Cause

Duane syndrome is caused by an abnormality in the early development of the cranial nerve involved in eye movement. The exact cause for this is unknown.^[4]

Duane syndrome usually occurs in a family for the first time, without any previous family history. In some cases, Duane syndrome is inherited from an affected parent. In these cases, Duane syndrome may occur when the CHN1, MAFB, or SALL4 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.^[1]^[3]

Duane syndrome associated with MAFB gene variants typically occurs with hearing loss. Duane syndrome associated with SALL4 gene variants typically causes Duane-radial ray syndrome (DRRS), a condition which includes Duane syndrome and upper limb abnormalities.^[1]^[3]

Diagnosis

Duane syndrome is diagnosed based on the symptoms, eye exam, and imaging studies. Genetic testing may be helpful if there are multiple family members with Duane syndrome.^[1]^[3]

Treatment

The treatment of Duane syndrome is focused on managing the symptoms. Options include corrective eye glasses or contacts, and eye surgery. Some of the indications for surgery include abnormal head positioning, an eyeball that is pushed back, or very narrow opening for the eye.^[3]^[4]

Specialists involved in the care of someone with Duane syndrome include:

Ophthalmologist
Ophthalmic surgeon
Medical geneticist

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The American Association for Pediatric Ophthalmology and Strabismus provides a patient information sheet on Duane syndrome. Click on the link to view this information.
Genetics Home Reference (GHR) contains information on Duane syndrome. This website is maintained by the National Library of Medicine.
The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Duane syndrome in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Duane syndrome. Click on the link to view a sample search on this topic.

References

Barry BJ, Whitman MC, Hunter DG, Engle EC. Duane Syndrome. GeneReviews. Updated Aug 29, 2019; https://pubmed.ncbi.nlm.nih.gov/20301369/.
Kekunnaya R, Negalur M. Duane retraction syndrome: causes, effects and management strategies. Clin Ophthalmol. Oct 30, 2017; 11:1917-1930. https://pubmed.ncbi.nlm.nih.gov/29133973/.
Gunduz A, Ozsoy E, Ulucan PB. Duane Retraction Syndrome: Clinical Features and a Case Group-Specific Surgical Approach. Semin Ophthalmol. 2019; 34(1):52-58. https://pubmed.ncbi.nlm.nih.gov/30516080/.
Gaur N, Sharma P. Management of Duane retraction syndrome: A simplified approach. Indian J Ophthalmol. 2019 Jan;67(1):16-22.. Jan 2019; 67(1):16-22. https://pubmed.ncbi.nlm.nih.gov/30574884/.

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Infancy

H50.8

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Cause

Diagnosis

Treatment

Learn more

Where to Start

In-Depth Information

References

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.