Traboulsi Syndrome

Disease Overview

Summary

Traboulsi syndrome is a genetic condition that primarily affects the eye. Almost all people with this condition have dislocation of the lens of the eye (ectopia lentis), reduced visual acuity and are usually nearsighted (myopia). Many people also have anomalies of the front (anterior) segment of the eye. These anomalies include thinning of the white outer layer of the eye (scleral thinning), blister-like elevation of the membrane covering the front of the eye (blebs), reduced space between the colored part of the eye (iris) and its transparent cover known as the cornea (shallow anterior chamber) or irises that stick to the cornea (iridocorneal adhesion) which can lead to blocking the drainage of fluid from the eye (angle closure). Most affected people also have an abnormally shaped or missing lens of the eye (spherophakia or aphakia) and abnormal pressure levels inside the eye (intraocular pressure). In some people there are problems in the front surface of the eye (cornea) or in the back portion of the eye (fundus).^1,2

Affected people usually have a common set of characteristic facial features that include crowded teeth with misalignment (malocclusion), a large beaked nose, a small retracted chin, triangular jaw, eyes that tend to slant down from the nose toward the side of the head (downslanting palpebral fissures), pursed appearance of the mouth, a head that is long from front-to-back (dolichocephaly), underdeveloped cheekbones (malar hypoplasia) and a high nasal bridge. Features of the condition usually become noticeable in childhood.^3-7

Traboulsi syndrome is caused by changes (pathogenic or likely pathogenic variants) in the ASPH gene. Inheritance is autosomal recessive.^6-8

Treatment is based on the specific problems that the person has and may include surgery.

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Synonyms

• ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism
• facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
• facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
• facial dysmorphism-lens dislocation anterior segment abnormalities-non traumatic conjunctive cysts syndrome
• Shawaf-Traboulsi syndrome
• FDLAB
• FDLAB syndrome

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Signs & Symptoms

People with Traboulsi syndrome usually have many different signs and symptoms but most of these are related to the eyes. Eye and vision problems that have been reported in people with this condition include:^2-19

• Lens dislocation (ectopia lentis): This is the dislocation of the eye’s lens, the clear structure that helps focus light on the retina. It is is the most common eye symptom in Traboulsi syndrome and occurs in almost all affected people.^3-16 It may affect one eye (unilateral) or both eyes (bilateral) and the direction of dislocation varies and may be upward (superior), forward (anterior) or downward (inferior).¹² It has been observed as early as 7 years of age.⁶
• Trembling of the iris (iridodonesis): After lens dislocation, some individuals develop iridodonesis, a trembling or shaking of the colored part of the eye (iris) when the eye moves.^3,7,11,13
• Abnormally shaped lens (spherophakia): Many affected people have spherophakia, a condition where the lens is rounder than normal and thicker from front to back.^{5,7,9,10,12,14-18} Spherophakia combined with weak lens-supporting fibers (zonules) can lead to dislocation.¹⁹ Spherophakia has been seen as early as 3 years of age⁷ and may be present from birth (congenital).¹⁹ In rare cases, the lens may be completely absent (aphakia).^3,10,14
• Cloudy lens (cataracts): Cataracts refer to clouding of the lens which interferes with vision.^3,4,6,14 Cataracts have been reported as early as 19 years of age.¹⁴
• Reduced vision (reduced visual acuity): Almost all people with the condition have reduced visual acuity, meaning their vision is less clear or sharp than normal.^3,4,5,7-18 In some people, vision is extremely poor, measuring as low as 20/400¹⁰ which means they see at 20 feet what a person with normal vision sees at 400 feet. In more severe cases, they may only be able to perceive light without being able to make out shapes or movement. Moderate nearsightedness (myopia) can begin as early as age 3.⁷ In some people, vision can be corrected to a normal level of 20/20 with glasses or contact lenses.¹⁰ However, some people continue to have reduced vision even after correction.^{9,11,13,17,18}
• Abnormalities of the anterior (front) chamber of the eye, the fluid-filled space between the cornea (transparent part of the front of the eye) and the iris (colored part of the eye) that can lead to several problems including:
  • Thinning of the white part of the eye (scleral thinning) is common and may lead to tears or ruptures (perforation).^3,4,9,10,16
  • Shallow or flat anterior chamber is seen in almost all affected people).^{3-7,9-12,14,16,18,19} Shallow chambers have been observed as early as age 3⁷ and flat chambers by age 16.^¹⁹ Associated findings can include:
  • Abnormal connection of the iris to the cornea (iridocorneal adhesion) ^3,4,6,10
  • Abnormal connection of the iris and the lens (posterior synechiae) ^14,18,20
  • Internal components of the eye pushing forward the frontal sclera to create a bulging effect and discoloration of the eye (anterior staphyloma)¹⁴
  • Blockage in the flow of fluid due to the contact of the tissues between the iris and the lens (pupillary block)¹³
  • Iridocorneal adhesion: An abnormal attachment between the iris and cornea^3,4,6,10
  • Abnormal fluid drainage: The changes in the front of the eye can block fluid drainage, increasing the risk of glaucoma, a disease that can damage the optic nerve
  • Angle closure glaucoma that may result from a shallow or flat anterior chamber^11,12
  • Deep anterior chambers instead of flat anterior chambers^{3 9,11} (seen as early as age 14)
  • Abnormal intraocular pressure (IOP): The pressure inside the eye can be too high (increased IOP): Up to 40 mmHg (normal range is 10–20 mmHg)^{3,6,7,15,16,18} which has been noted in people as young as age 5⁷ or too low (hypotony), where, in some people, pressure drops below measurable levels^3,9,10,14,17 and has been reported from age 19.¹⁴
  • Spontaneous formation of a fluid-filled blister-like pocket on the eye surface (bleb)
  • Blebs may form without surgery or trauma, as the eye attempts to regulate internal pressure (it has been reported from age 14).^{3,5,9-12,14,17}
• Changes in the back of the eye (fundus): Some people show abnormalities in the fundus that can be seen in children as young as 5 years:
  • Prominent blood vessels (tessellated fundus)¹³
  • Asymmetrical optic nerves (optic disc asymmetry)⁷
  • Pale optic discs (raised disks on the retina at the point of entry of the optic nerve, lacking visual receptors and so creating a blind spot)¹³
  • Large cup-to-disc ratio (linked to glaucoma)^16,18
  • Flattened retina (light-sensitive layers of nerve tissue at the back of the eye that receive images and sends them as electric signals through the optic nerve to the brain)¹⁴
  • Wrinkling of the central retina (macular folds)¹⁰
• Corneal abnormalities
  • The clear front surface of the eye (cornea) may be clouded (corneal opacification),^4,10,14 swelled (corneal edema),^10,13 wrinkled (corneal radial folds),¹⁰ or may have calcium deposits (band keratopathy)¹⁴ or have a larger-than-normal diameter⁷ or may have a cone shape (keratoconus).^10,12

Other ocular anomalies found in only one or a few individuals with Traboulsi syndrome include the following:

• Whites of the eye turning gray (gray sclerae)¹² or red (conjunctival hyperemia)¹³
• Swelling of the clear membrane covering the inner surface of the eyelid and white part of the eye (conjunctiva), also referred to as diffuse chemosis¹⁰
• Degeneration of the iris (iris atrophy) or poorly reacting pupils^13,14
• Scattered white dots in the anterior lens capsule (glaukomflecken)¹³
• Vibrations of the lens of the eye (phacodonesis)^7,14
• Ocular discomfort^14,18
• Slit-shaped/irregular pupil¹⁴

Non-ocular signs and symptoms

• Craniofacial features: People with Traboulsi syndrome often have noticeable head and facial differences. These may include: ^{3,4,6,8,9,11-19}
• Head shape that is longer from front to back than typical (dolichocephaly)
• Crowded or misaligned teeth (malocclusion)
• Prominent, curved nose often described as beaked
• Small set-back chin (retracted chin)
• Triangular-shaped lower jaw
• Eyes that slant downward from the inner corner near the nose to the outer edge of the face (downslanting palpebral fissures)
• Mouth with a tight or pursed appearance
• Flattened or underdeveloped cheekbones (malar hypoplasia)
• Elevated area of the nose between the eyes (high nasal bridge)

Some people also have additional body findings, though these have been observed less frequently. These include: ^4,6-8,13,18

• High-arched roof of the mouth (high arched palate)
• Breastbone that either protrudes outward (pectus carinatum) or sinks inward (pectus excavatum)
• Elbows that angle outward more than usual (cubitus valgus)
• Long, thin fingers
• Short fingers (brachydactyly)
• Curvature of the spine (scoliosis)
• Hernia in the groin region (inguinal hernia)
• Difficulty fully bending the fingers (reduced finger flexion)

A few physical findings have been reported only once in people with Traboulsi syndrome. These include:

• Stretch marks (striae) on the skin¹²
• Tissue hanging at the back of the throat is split into two (bifid uvula)⁶
• Benign (non-cancerous) growth behind the eardrum (cholesteatoma)¹⁶
• Unusually broad big toes⁷
• Soft, fluid-filled lump on the back of the hand (dorsal ganglion)⁷
• Skin that bruises easily¹²
• Decreased bone density⁷
• Enlarged airways in the lungs (bronchiectasis)¹²
• Backward flow of urine from the bladder toward the kidneys (vesicoureteral reflux)²¹

Some individuals with Traboulsi syndrome have had cardiac imaging such as echocardiograms (ultrasound exams of the heart) that did not show detectable abnormalities.^{3,6,9,12,14,15,18} However, others have had heart-related findings. It remains uncertain whether these findings are directly related to Traboulsi syndrome or are coincidental. Repeatedly observed findings include:

• Leakage of blood backwards through the heart valves, known as mitral valve regurgitation or aortic regurgitation^3,10,12
• Aortic dilation, which refers to the enlargement of the aorta (the main artery carrying blood from the heart to the rest of the body). This has been observed with a Z-score as high as +11.94.¹²

• Z-score is a measurement that compares the size of the aorta to what is expected for someone’s age and body size.
• A Z-score of 0 means the measurement is average; a score above +2 is considered abnormally large.
• A Z-score of +11.94 is extremely high and suggests a significantly enlarged aorta. In one case, this was observed in an 11-year-old child.¹²

Additional heart-related findings seen only once in individuals with Traboulsi syndrome include:

• Thickening of the heart muscle (left ventricular hypertrophy)⁴
• A hole between the lower chambers of the heart (ventricular septal defect)⁸
• Bleeding in the brain (intracranial hemorrhage)¹²

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Causes

Traboulsi syndrome is caused by changes (pathogenic or likely pathogenic variants) in the ASPH gene. These genetic changes affect how the ASPH protein is made or functions in the body (protein expression).

Research in laboratory animals, such as mice, has shown that when the ASPH protein does not work properly, it can lead to problems with the eyes, snout (facial structure) and limbs. These findings are similar to the physical features seen in people with Traboulsi syndrome.⁸

The ASPH protein includes a special section (domain) known as a “catalytic domain”, which speeds up a specific chemical process called hydroxylation. In this process, the protein adds a small chemical group (a hydroxyl group) to certain parts of other proteins, specifically, aspartic acid and asparagine residues, in areas called EGF-like domains (epidermal growth factor-like domains). These domains are sections of proteins that play a key role in cell growth and the structure of connective tissue.

In people with Traboulsi syndrome, the EGF-like domains may not be modified properly due to the ASPH gene variants. This is important because abnormal EGF-like domains are often found in other genetic conditions that involve ectopia lentis. This suggests that these domains are essential for keeping the lens stable and properly positioned within the eye.⁵

In addition, the ASPH gene variants may interfere with the normal function of other important proteins, such as FBN1  and LTBP2, by affecting hydroxylation of their EGF-like domains. Specifically, these proteins are crucial in the formation of support structures in the eye (microfibrils and ciliary zonules) that hold the lens in place. Further, impaired hydroxylation of these EGF domains as observed in Traboulsi syndrome, is generally notable in many genes associated with ectopia lentis.

There are many different variants in the ASPH gene that can cause Traboulsi syndrome,¹⁰ meaning that different variants within the same gene (ASPH) lead to the same condition (allelic heterogeneity). These variants include many missense variants, where a single nucleotide base pair in the DNA sequence is substituted from one amino acid for another in the resulting protein. Other individuals have nonsense variants where a single nucleotide base pair in the DNA sequence results in a premature stop codon, which shortens the protein. About 85.7% of people with Traboulsi syndrome who have missense variants in the ASPH gene develop blebs, compared to only 33% of people with Traboulsi syndrome who have nonsense variants.¹³

Particular ASPH gene variants may result in varying degrees of impaired EGF hydroxylation, which manifests as a wide degree of variable symptoms among individuals with Traboulsi syndrome.¹⁰ However, further research is needed to confirm and explain the underlying cause of this disease.

Inheritance

Traboulsi syndrome is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a disease-causing gene variant from each parent. If an individual receives one normal gene and one disease-causing gene variant, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the gene variant and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

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Affected populations

Traboulsi syndrome is a rare condition in which the prevalence is not known. A few dozen people are known to be formally diagnosed with Traboulsi syndrome. Because there are conditions with similar symptoms that are more commonly seen in the population, this condition is probably underdiagnosed.

Traboulsi syndrome occurs in males and females equally. The onset is usually in childhood or adolescence. Case studies report the age of onset ranging from 3-19 years of age.¹ Traboulsi syndrome can occur in individuals of any ethnic background. However, Traboulsi syndrome is most commonly observed in individuals of Afro-Arabian and Arabian ethnicities, with other countries of origin including India, Pakistan, Mexico, the United Kingdom and China. Being an autosomal recessive condition, affected populations may more commonly include those of families in which individuals are blood related to each other (consanguinity). Notably, this condition was first reported in a consanguineous Lebanese Druze family.¹

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Disorders with Similar Symptoms

Symptoms of the following conditions can be similar to those of Traboulsi syndrome. Compiling a differential diagnosis is essential to arrive at a correct diagnosis and consider overlapping clinical features.

Marfan syndrome is a connective tissue disorder that has many overlapping features with Traboulsi syndrome. Specifically, individuals may have thoracic aortic aneurysms and dissections, dislocation of the lenses of the eyes (ectopia lentis), nearsightedness (myopia), mitral valve prolapse, overgrowth of the long bones of the arms and legs, tall stature, scoliosis and/or indentation or protrusion of the chest (pectus deformity) as well as other craniofacial features, like malar hypoplasia. Some key differences include those with the skeletal system. For example, individuals with Traboulsi syndrome are not necessarily especially tall and lanky and do not have an abnormal arm span. There is no particular body size associated with Traboulsi syndrome, as heights in affected individuals have ranged from the 2nd to 98th percentile and weights have ranged from less than the 1st percentile to the 99th percentile.¹² Arm span to height ratios have ranged from less than 0.98 to 1.056.^12,18 Both conditions can present with ectopia lentis and distinct craniofacial features, but Marfan syndrome also involves systemic features like aortic dilation and skeletal abnormalities, which are less common in Traboulsi syndrome. Marfan syndrome is inherited in an autosomal dominant pattern and is caused by variants in the FBN1 gene.²²

Isolated ectopia lentis (IEL) refers to lens dislocation in the absence of other systemic or ocular features, differently than the wider presentation that occurs in Traboulsi syndrome. Specifically, IEL affects the positioning of the lenses in the eye(s) where it may be off center. Typical clinical features include nearsightedness (myopia), blurred vision (astigmatism), cataracts (clouding of the eyes) and glaucoma (increased pressure in the eyes). In some people, IEL could lead to retinal detachment. Isolated ectopia lentis is thought to be hereditary and occurs due to variants in the FBN1 gene or ADAMTSL4 gene. When caused by variants in the FBN1 gene, IEL is inherited in an autosomal dominant pattern. However, when IEL is caused by variants in the ADAMTSL4 gene, it is inherited in an autosomal recessive pattern.²³

Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocysteine in the blood and urine. In most people, homocystinuria is caused by reduced activity of an enzyme known as cystathionine beta-synthase (CBS). Due to deficiency of the CBS enzyme, infants with homocystinuria may not grow and gain weight at the expected rate (failure to thrive) and have developmental delays. By approximately 3 years of age, specific findings may become apparent. These may include dislocation or subluxation of the lens of the eyes (ectopia lentis), associated “quivering” (iridodonesis) of the colored region of the eyes (iris), severe nearsightedness (myopia) and other eye abnormalities. This metabolic condition can cause ectopia lentis and other ocular and systemic features, but unlike Traboulsi syndrome, it is characterized by elevated homocysteine levels. Homocysteine levels were normal in all individuals with Traboulsi syndrome for whom it was measured.²⁴ Classic homocystinuria is inherited in an autosomal recessive pattern, occurring due to variants in the CBS gene.²⁴

Pellucid marginal degeneration (PMD) is a slowly progressive condition that causes an individual’s cornea to grow thin and bulge outward. Specifically, with PMD, the crescent-shaped area of the cornea gradually thins over time, leading to changes in vision such as astigmatism and reduced visual acuity.²⁵ There are no known hereditary causes for PMD.²⁶ This condition involves thinning of the cornea at the periphery, but it does not typically cause lens dislocation or facial differences seen in Traboulsi syndrome.

Axenfeld-Rieger syndrome is primarily an eye condition that can cause anterior segment abnormalities and lens dislocation similar to Traboulsi syndrome; however, this condition differs due to its involvement with iris and corneal abnormalities not prominently seen in individuals with Traboulsi syndrome such as underdeveloped iris, misaligned pupil (corectopia), or the appearance of extra holes in the iris which can look like multiple pupils (polycoria). Additional common syndromic features of Axenfeld-Rieger syndrome include distinctive facial features such as hypertelorism, a flattened midface with a broad, prominent forehead, dental abnormalities such as small teeth (microdontia) or missing teeth (oligodontia) and extra folds of skin around the belly button (redundant periumbilical skin). Axenfeld-Rieger syndrome is caused by variants in at least two known genes, PITX2 or FOXC1, and is inherited in an autosomal dominant pattern.²⁷

Peter’s anomaly is characterized by anterior segment abnormalities including corneal opacities which lead to approximately half of affected individuals having low vision or being legally blind. However, this condition does not typically involve lens dislocation or facial differences seen in individuals with Traboulsi syndrome. Other eye issues in individuals with Peter’s anomaly may include glaucoma, cataracts and unusually small eyeballs (microphthalmia). Peter’s anomaly occurs due to variants in at least four genes: FOXC1, PAX6, PITX2 and CYP1B1. Most pathogenic variants identified in individuals with Peter’s anomaly are de novo (i.e., sporadic or a new variant). When the condition is caused by variants in the CYP1B1 gene, it follows an autosomal recessive pattern and when it is caused by variants in the FOXC1, PAX6 or PITX2 gene, it follows an autosomal dominant pattern.²⁸

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Diagnosis

Diagnosis of Traboulsi syndrome is made by genetic testing identifying two pathogenic ASPH gene variants.

Doctors should consider doing genetic testing in patients who have the typical signs and symptoms described previously. Lens dislocation, shallow or flat anterior chamber, filtering blebs as well as facial differences including large beaked nose, malar hypoplasia, malocclusion, dolichocephaly, high nasal bridge, small, retracted chin and downslanting palpebral fissures should prompt consideration of testing for Traboulsi syndrome.

Prenatal diagnosis by genetic testing is possible for pregnancies at increased risk for Traboulsi syndrome if the disease-causing variants in the family are known.

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Standard Therapies

Currently, there is no known cure for Traboulsi syndrome. However, careful management by healthcare professionals, especially eye doctors (ophthalmologists), can help preserve vision and monitor for potential complications.

Many individuals with Traboulsi syndrome have reduced vision due to lens dislocation or other eye abnormalities. In some people, rigid gas-permeable contact lenses, a type of firm contact lens that allows oxygen to pass through, can be used to improve visual clarity.¹¹

To reduce the risk of complications following eye procedures, certain preventive measures have been recommended. For example, avoiding cuts into the white part of the eye (sclerotomies) and avoiding stitches in this area may help prevent the formation of unwanted fluid pockets (filtering blebs).¹⁷ Regular monitoring of intraocular pressure (fluid pressure inside the eye) is also advised, as abnormal pressure can lead to damage of the optic nerve and vision loss if left untreated.¹¹

Because some individuals with Traboulsi syndrome have been found to have aortic dilation, an enlargement of the main blood vessel that carries blood from the heart, regular imaging of the aortic root (base of the aorta where it connects to the heart) has been recommended as part of ongoing care.¹²

Surgery may be required depending on the severity of issues such as:

• Lens dislocation (where the eye’s lens moves out of place)
• Shallow anterior chamber (a reduced space between the cornea and the iris, which can increase pressure in the eye)
• Abnormal intraocular pressure

Several types of eye surgeries have been performed in people with Traboulsi syndrome:

• Lensectomy: Surgical removal of the lens of the eye. This is commonly performed^{3,7,8,11,17,18} and may help prevent damage to the clear front surface of the eye (corneal scarring) and damage to the drainage structures inside the eye (angle damage) if done early.¹⁹
• Vitrectomy: This is removal of the vitreous humor, the clear gel that fills the center of the eye.^3,13,17,18
• Peripheral iridotomy: This is a procedure in which a small hole is made in the iris (colored part of the eye) to improve fluid drainage and relieve pressure.^3,7,18
• Scleral patch graft: This is surgical repair of the sclera (white part of the eye) using graft material.^4,10,17
• Conjunctival autograft: This is transplantation of healthy tissue from the eye’s surface (conjunctiva) from one area of the eye to another, often used after surgery.¹⁰
• Bleb removal: This is surgical removal of an unwanted bleb, or blister-like pocket, that may form after certain eye surgeries.¹⁰
• Peripheral photocoagulation: This is a laser procedure used to treat or prevent problems in the retina by improving drainage and sealing leaking blood vessels.¹³

Risks and benefits of therapies should be discussed with appropriate medical providers.

Genetic counseling is recommended for affected individuals and their families.

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/ All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website:

https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact:

http://www.centerwatch.com

For information about clinical trials conducted in Europe, contact:

https://www.clinicaltrialsregister.eu/

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References

1. Traboulsi syndrome. Online Mendelian Inheritance in Man (OMIM). Updated 01/26/2024. https://omim.org/entry/601552
Accessed Oct 6, 2025.

2. Shawaf S, Noureddin B, Khouri A, Traboulsi EI. A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. Ophthalmic Genet. 1995;16(4):163-169. doi:10.3109/13816819509057858

3. Haddad R, Uwaydat S, Dakroub R, Traboulsi EI. Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance. Am J Med Genet. 2001;99(3):185-189. doi:10.1002/1096-8628(2001)9999:9999<::aid-ajmg1156>3.0.co;2-v

4. Patel N, Khan AO, Mansour A, et al. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. Am J Hum Genet. 2014;94(5):755-759. doi:10.1016/j.ajhg.2014.04.002

5. Abarca Barriga HH, Caballero N, Trubnykova M, et al. A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome. Am J Med Genet A. 2018;176(11):2494-2500. doi:10.1002/ajmg.a.40508

6. Kulkarni N, Lloyd IC, Ashworth J, et al. Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis. Clin Dysmorphol. 2019;28(4):184-189. doi:10.1097/MCD.0000000000000287

7. Lei C, Guo T, Ding S, et al. Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family. Mol Genet Genomic Med. 2021;9(1):e1553. doi:10.1002/mgg3.1553

8. Chandran P, Chermakani P, Venkataraman P, Thilagar SP, Raman GV, Sundaresan P. A novel 5 bp homozygous deletion mutation in ASPH gene associates with Traboulsi syndrome. Ophthalmic Genet. 2019;40(2):185-187. doi:10.1080/13816810.2019.1605390

9. Senthil S, Sharma S, Vishwakarma S, Kaur I. A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome. Ophthalmic Genet. 2021;42(1):28-34. doi:10.1080/13816810.2020.1836659

10. Van Hoorde T, Nerinckx F, Kreps E, et al. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. Ophthalmic Genet. 2021;42(4):493-499. doi:10.1080/13816810.2021.1923039

11. Jones G, Johnson K, Eason J, et al. Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome. Eur J Med Genet. 2022;65(10):104572. doi:10.1016/j.ejmg.2022.104572

12. Ibarra-Ramírez M, Campos-Acevedo LD, Valenzuela-Lopez A, López-Villanueva LA, Fernandez-de-Luna M, Mohamed-Noriega J. A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations. Genes. 2024; 15(9):1120. https://doi.org/10.3390/genes15091120

13. Awais T, Ali M, Khan SA. Traboulsi Syndrome in Pakistan. J Coll Physicians Surg Pak. 2019;29(6):S37-S40. doi:10.29271/jcpsp.2019.06.S37

14. Musleh M, Bull A, Linton E, et al. The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis. Genes (Basel). 2023;14(4):791. Published 2023 Mar 25. doi:10.3390/genes14040791

15. Siggs OM, Souzeau E, Craig JE. Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation. Ophthalmic Genet. 2019;40(1):12-16. doi:10.1080/13816810.2018.1561904

16. Shanmugam PM, Sagar P, Konana VK, et al. Recurrent unintentional filtering blebs after vitrectomy: A case report. Indian J Ophthalmol. 2020;68(4):660-662. doi:10.4103/ijo.IJO_1249_19

17. Lima FL, Cronemberger S, Albuquerque ALB, et al. Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant. Ophthalmic Genet. 2023;44(4):366-370. doi:10.1080/13816810.2023.2206888

18. National Center for Biotechnology Information. Spherophakia. https://www.ncbi.nlm.nih.gov/medgen/452350 Accessed Oct 6, 2025.

19. Mansour AM, Younis MH, Dakroub RH. Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. Case Rep Ophthalmol. 2013;4(1):84-90. Published 2013 Apr 25. doi:10.1159/000350951

20. Gudgel DT, Iwach AG, Turbert D. Eye pressure. American Academy of Ophthalmology. Published March 5, 2025. https://www.aao.org/eye-health/anatomy/eye-pressure Accessed Oct 6, 2025.

21. Vivante A, Hwang DY, Kohl S, et al. Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. J Am Soc Nephrol. 2017;28(1):69-75. doi:10.1681/ASN.2015080962

22. MedlinePlus Genetics. Marfan syndrome. Updated May 1, 2018. https://medlineplus.gov/genetics/condition/marfan-syndrome/
Accessed Oct 7, 2025.

23. Hussain SJ, Amalnath D, Kasthuri N, et al. Familial Ectopia Lentis: Looking Beyond Marfan’s Syndrome. J Assoc Physicians India 2023;71(11):94-95.

24. MedlinePlus Genetics. Homocystinuria. Updated May 1, 2023. https://medlineplus.gov/genetics/condition/homocystinuria/
Accessed Oct 7, 2025.

25. Cleveland Clinic. Pellucid marginal degeneration. Updated March 13, 2013. https://my.clevelandclinic.org/health/diseases/24817-pellucid-marginal-degeneration
Accessed Oct 7, 2025.

26. Saeed NS, Bouchard CS, Garcia C. Case of Positive Family History for Pellucid Marginal Degeneration. Invest. Ophthalmol. Vis. Sci. 2012;53(14):4210.

27. MedlinePlus Genetics. Axenfeld-Rieger syndrome. Updated November 1, 2019. (US). https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/
Accessed Oct 7, 2025.

28. MedlinePlus Genetics. Peters anomaly. Updated January 1, 2014. https://medlineplus.gov/genetics/condition/peters-anomaly/#inheritance\.
Accessed Oct 7, 2025.

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Programs & Resources

• Assistance Programs
• Patient Organizations

RareCare^® Assistance Programs

NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.

Additional Assistance Programs

MedicAlert Assistance Program

NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/

Rare Disease Educational Support Program

Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/

Rare Caregiver Respite Program

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/

Learn more about Patient Assistance Programs >

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