Traboulsi Syndrome

Traboulsi syndrome is a very rare, inherited eye condition in which several things tend to happen together. People often have a distinct facial appearance (usually flat cheeks and a prominent or “beaked” nose), lens dislocation or subluxation (the clear focusing lens inside the eye slips out of place), and abnormalities in the front part of the eye (the “anterior segment”) such as shallow chambers or angle problems. Some people also develop spontaneous filtering blebs, which are fluid-filled outpouchings on the white of the eye that form without surgery or trauma; these usually reflect thinning of the sclera (the white coat of the eye) and abnormal outflow of the watery fluid inside the eye. The condition is caused by changes (variants) in a single gene called ASPH, which encodes the enzyme aspartyl/asparaginyl β-hydroxylase; this enzyme modifies specific protein regions (EGF-like domains) that are important in building and maintaining delicate eye structures like the zonules that hold the lens in place. When ASPH does not work normally, those structures can be weak or malformed, making the lens unstable and setting off a cascade of eye problems over time. PubMed+1NCBI

Traboulsi syndrome is a very rare genetic eye condition. Children are usually born with it because of changes (mutations) in a single gene called ASPH. This gene helps an enzyme that adds tiny “hydroxyl” groups to parts of many proteins that carry EGF-like domains. Those proteins are important for the small fibers (zonules) that hold the lens in place. When ASPH does not work well, the lens can slip from its normal position (ectopia lentis or lens subluxation), and the front of the eye can develop several problems. People with this syndrome often have a special facial look (for example, flat or under-developed cheeks and a prominent or beaked nose). The eyes can develop spontaneous filtering blebs (small, abnormal drainage pouches under the conjunctiva that form without surgery), and pressure in the eye can become too high (glaucoma) or, if a bleb leaks, sometimes too low (hypotony). Vision is usually blurred and very near-sighted (high myopia). The condition is usually autosomal recessive (both parents carry one silent copy). There is no single cure, but careful, step-by-step care—optical, medical, and surgical—can protect vision and comfort over time. PubMed+1PMC

Traboulsi syndrome is autosomal recessive—a person typically needs to inherit a disease-causing ASPH variant from each parent. The condition was first recognized in families from Lebanon in 1995, and since then, cases have been described in several countries; published reports emphasize that severity and exact features can vary a lot from one person to another—even within the same family. Some individuals show lens instability early; some develop blebs later; and some have little or no bleb formation at all. PubMedMDPI

In simple terms: the gene change weakens the “scaffolding” that keeps the lens steady, the lens then moves, the front of the eye becomes crowded or irritated, eye pressure can rise, and the outer coat may thin in places, allowing fluid to form bulges on the surface. Over years, this can reduce vision if not recognized and managed. PubMed

Types

Medical papers don’t formally divide Traboulsi syndrome into rigid “types,” but they do show a spectrum of presentations. For readers, it helps to think in four practical groupings that clinicians often recognize when they compare patients:

1. Classic FDLAB pattern
   This includes the full combination: facial features, Facial dysmorphism; lens Dislocation/subluxation; L anterior segment anomalies; and spontaneous A filtering Blebs. PubMed

2. Ocular-predominant without blebs
   Some patients have lens subluxation and anterior segment changes but never develop spontaneous blebs; their gene variants and the timing of presentation may differ. MDPI

3. Bleb-prone with hypotony and surface problems
   A subset tends to form nontraumatic filtering blebs, with symptoms from ocular surface dryness or discomfort, and sometimes low eye pressure (hypotony) if outflow is excessive. PubMed

4. Syndromic-leaning phenotype
   A minority show additional features reported in case series—such as skeletal chest shape differences, joint hypermobility, or even respiratory or cardiac findings. These associations are still being studied and are not required for the diagnosis. MDPI

Causes

Note: The root cause is ASPH gene variants. The points below explain how that genetic change leads to the many findings you can see or feel. Each “cause” is a biologic driver or mechanical reason behind the signs and complications.

1. ASPH loss of function causes inadequate hydroxylation of EGF-like domains in key proteins. This is the primary cause. PubMed

2. Weak ciliary zonules form because the proteins that build and anchor them are not processed normally, so the lens shifts. Cell

3. Anterior lens shift pushes the iris forward, narrows the drainage angle, and sets the stage for pressure problems.

4. Iris tremble (iridodonesis) and lens wobble (phacodonesis) appear because the lens support is loose.

5. Scleral thinning in some patients makes it easier for aqueous fluid to track through and form filtering blebs. NCBI

6. Blebs can change corneal shape over time, causing irregular astigmatism and blur.

7. Chronic angle crowding can damage the trabecular meshwork, raising intraocular pressure.

8. Corneal touch from a forward lens can scratch the inner corneal layer, causing haze or edema. Lippincott Journals

9. High myopia develops or worsens because the abnormal lens position and corneal shape distort focus.

10. Iris atrophy may occur in the stressed, crowded anterior chamber, adding to light sensitivity and glare.

11. Retinal detachment risk rises if the lens dislocation and myopia become marked (rare but reported in series).

12. Facial dysmorphism results from developmental effects of ASPH in craniofacial tissues during growth. Cell

13. Aortic root dilation in some families suggests connective-tissue involvement beyond the eye in a subset. PubMed

14. Inguinal hernia reported in several individuals likely reflects weaker connective support in the abdominal wall. PubMed

15. Pulmonary blebs or bullae and spontaneous pneumothorax have been described in single-family reports, again hinting at shared tissue biology. PMC

16. Genetic autozygosity (consanguinity) increases the chance that a child inherits two non-working ASPH copies. ScienceDirect

17. EGF-domain dependency (many ectopia-lentis genes use EGF-like domains) means ASPH failure can echo features of Marfan-spectrum eye disease. Cell

18. Poor tear film dynamics around blebs can dry the surface and cause foreign-body sensation and redness.

19. Lens-induced inflammation can occur when the capsule is stressed, adding pain or photophobia.

20. Surgical scarring risk can be higher when tissues are thin and fragile, shaping surgical choices and timing in this syndrome (observed in case reports and reviews). Lippincott Journals+1

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Symptoms

1. Blurry vision: the lens is not centered, so the eye cannot focus clearly.

2. Seeing “double” or “shadow” in one eye: called monocular diplopia, caused by an off-center lens.

3. Glare and halos: light scatters through an uneven lens or cornea.

4. Frequent glasses changes: focus shifts as the lens moves; refraction is unstable.

5. High myopia symptoms: distant objects look small and blurred; squinting helps only a little.

6. Eye discomfort or ache: crowding in the front of the eye can cause pressure and strain.

7. Headache: visual strain and pressure changes can trigger dull headaches.

8. Redness and irritation: blebs and surface dryness can make the eye look and feel inflamed.

9. Light sensitivity: an atrophic iris or corneal haze lets extra light scatter inside the eye.

10. “Shaking” of the colored part or lens with eye movement: people sometimes notice a wobble.

11. Reduced side vision: angle problems and pressure can slowly steal peripheral vision.

12. Sudden eye pain with nausea (uncommon but urgent): may suggest an acute pressure spike.

13. Droopy lids or tired-looking eyes: some patients have brow ptosis or heavier lids.

14. Cosmetic concerns about facial shape: flat cheeks or beaked nose can affect appearance.

15. Breathlessness or chest symptoms in very rare systemic cases: may relate to lung blebs or aortic changes and always need medical attention. PubMedPMC

Diagnostic tests

A) Physical examination

1. Full facial and general exam
   A clinician looks for the characteristic facial pattern (flat cheeks, beaked or prominent nose), dental crowding, and jaw shape; they may also note chest wall shape or joint laxity. This exam helps link the eye signs with the whole-person picture to suggest a syndromic diagnosis rather than an isolated eye problem. NCBI

2. Standard eye chart testing (visual acuity)
   Measures how clearly each eye sees. It documents the baseline and monitors improvement or decline over time. People with lens shift often have reduced best-corrected vision unless the lens is removed or well centered. MDPI

3. Refraction
   Determines glasses/contact lens power. High myopia is common; the refraction can be irregular when the lens is off-center, which explains ghosting or haloes. EyeWiki

4. External eye inspection
   The doctor looks for spontaneous blebs (transparent or bluish domes on the white of the eye), areas of scleral thinning, or surface dryness over blebs. These clues point strongly toward Traboulsi syndrome when paired with lens instability. NCBI

5. Systemic vitals and auscultation
   Some clinicians listen to the heart and lungs and screen joints or spine in case there are reported systemic links (still under study). This does not define the condition but can guide referrals. MDPI

B) “Manual” or slit-lamp–based clinical tests

6. Slit-lamp biomicroscopy
   This microscope exam is the cornerstone. It directly shows lens subluxation/dislocation, iris changes (e.g., patchy atrophy), anterior chamber depth, and corneal clarity. It can also reveal a bleb by showing a thin, elevated conjunctival area with underlying fluid. PubMed

7. Applanation tonometry
   Measures eye pressure. Repeated checks matter because angle crowding or bleb-related outflow changes can make pressure rise or fall, threatening the optic nerve or causing hypotony. EyeWiki

8. Gonioscopy
   A mirrored contact lens is used to inspect the drainage angle. It shows whether the angle is narrow or closed from a forward lens, or whether there is peripheral anterior synechiae; this steers glaucoma prevention and treatment. EyeWiki

9. Pupil and iris assessment
   The doctor looks for iridodonesis (wobbling iris), sectoral iris atrophy (a sign of previous block or surgical history), and whether the pupil is decentered because the lens tugs on zonules. These findings support lens instability. MDPI

10. Dilated fundus exam
    Checks the retina and optic nerve for pressure damage, tears, or detachment risk. It also evaluates disc size/color—several case reports note small, slightly pale discs in some patients. MDPI

C) Laboratory and pathological/genetic tests

11. Targeted or panel-based genetic testing (ASPH)
    Sequencing confirms biallelic ASPH variants in most affected people and solidifies the diagnosis in unclear situations or when features overlap with conditions like Marfan or Weill–Marchesani. Family testing helps with genetic counseling. PubMed

12. Whole-exome sequencing
    Used when panel testing is inconclusive or to discover novel variants. This approach has identified nonsense, missense, splice, and deletion variants across different families, explaining part of the phenotypic spread. MDPI

13. Carrier testing for relatives
    Once the family variants are known, targeted testing identifies carriers, informs future pregnancies, and supports community counseling in high-risk areas. (Autosomal recessive inheritance.) PubMed

14. Rule-out labs for look-alikes
    Blood homocysteine (for homocystinuria) or genetic testing for FBN1 (Marfan) or ADAMTSL4 (ectopia lentis et pupillae) can be ordered when the clinical picture is atypical or the ASPH result is pending. This avoids mislabeling. PubMed

15. Archived tissue or endothelial cell analysis (rarely)
    In special situations, corneal endothelial counts or post-surgical samples add supportive information about structural stress but are not required for diagnosis. MDPI

D) Electrodiagnostic tests

16. Optic nerve function testing (VEP) when glaucoma is suspected
    A visual evoked potential can add objective evidence about the pathway from the eye to the brain in advanced or confusing cases, complementing OCT and field testing. (Supportive, not specific.) General neuro-ophthalmic practice.

17. Retinal electrophysiology (ERG) if vision loss is out of proportion
    An ERG is not a hallmark of Traboulsi syndrome but helps rule out coexisting retinal disease if the clinical picture does not fully explain the vision level. General retinal diagnostics.

18. Automated visual fields
    Technically not “electrodiagnostic,” but function-testing of side vision is central to tracking pressure-related nerve damage over time in angle disease. EyeWiki

E) Imaging tests

19. Ultrasound biomicroscopy (UBM)
    High-frequency ultrasound that looks closely at the anterior segment. In reported cases, UBM helps visualize lens position, zonular status, scleral thinning, and abnormal bleb tracts, making it especially helpful in this syndrome. PubMed

20. Anterior segment OCT
    Light-based imaging to measure chamber depth and angle width and to document corneal or iris changes over time. Useful for planning and follow-up around surgery. Anterior segment imaging standard.

21. Specular microscopy
    Counts corneal endothelial cells (the pump layer). Lens-cornea contact or surgery can stress this layer; documenting baseline helps guide risk discussions. MDPI

22. Axial length and biometry
    Measures eye length and lens parameters. Helpful because high myopia and surgical planning are common issues when the lens is unstable. EyeWiki

23. B-scan ocular ultrasound
    If the lens is luxated or the view is cloudy, B-scan confirms lens location and checks for retinal detachment or vitreous complications. General ocular imaging standard.

24. Optical coherence tomography (OCT) of the optic nerve and macula
    Monitors retinal nerve fiber layer for pressure damage and checks the macula for traction or edema after lens surgery. Glaucoma and retina standard.

25. Systemic imaging when indicated (e.g., chest CT)
    Rare reports mention lung bullae or spontaneous pneumothorax; imaging is not routine but may be ordered if symptoms suggest extra-ocular involvement. MDPI

Non-pharmacological (non-drug) treatments

(each with Description • Purpose • Mechanism)

1. Team-based care & regular follow-up
   Description: eye care by pediatric/cornea/glaucoma specialists plus genetics. Purpose: early detection of lens shift, pressure spikes, and bleb leaks. Mechanism: structured monitoring reduces sudden vision loss risk. PMC

2. Protective eyewear
   Description: shatter-resistant glasses during play/work. Purpose: prevent trauma that could worsen zonular weakness or bleb rupture. Mechanism: barrier reduces mechanical stress on a thin eye wall.

3. Optimized optical correction
   Description: full-time glasses or contacts for high myopia/astigmatism. Purpose: best possible clarity while delaying surgery until needed. Mechanism: image focus on the retina.

4. Low-vision aids (if needed)
   Description: magnifiers, high-contrast materials, task lighting. Purpose: maintain reading, school, and work independence. Mechanism: enlarges image and boosts contrast.

5. Posture & head-position strategies
   Description: avoid prolonged face-down pressure on the eyes. Purpose: reduce mechanical stress on thin conjunctiva over blebs. Mechanism: lowers external bleb compression.

6. Avoid eye rubbing
   Description: teach both child and caregivers. Purpose: rubbing can open a bleb leak or move the lens. Mechanism: reduces shear/pressure on conjunctiva and zonules.

7. Bleb hygiene education
   Description: recognize redness, discharge, pain, or a “wet” spot. Purpose: fast response to leaks/infection. Mechanism: early care prevents endophthalmitis or hypotony complications. PMC

8. Bandage soft contact lens (short-term, in clinic)
   Description: temporary lens placed by a doctor over a small bleb leak. Purpose: tamponade the leak while tissue heals. Mechanism: mechanical sealing; often paired with medical therapy. PMC

9. Lubrication & surface care
   Description: preservative-free artificial tears/gel; lid hygiene if blepharitis. Purpose: comfort, reduced microtrauma over thin conjunctiva. Mechanism: improves tear film and lowers friction.

10. Tinted lenses / photochromic filters
    Description: sunglass tints or filters. Purpose: reduce light sensitivity from irregular pupils or corneal changes. Mechanism: cuts glare and scattered light.

11. School and workplace accommodations
    Description: seating, large print, device magnification, testing time. Purpose: equal learning and job performance. Mechanism: reduces visual strain, improves accessibility.

12. Genetic counseling
    Description: counseling for families on autosomal-recessive inheritance and testing. Purpose: informed family planning. Mechanism: clarifies carrier risk and recurrence. PubMed

13. Systemic screening when indicated
    Description: baseline cardiopulmonary review if symptoms/history suggest issues. Purpose: rule out rare associations. Mechanism: targeted safety checks. Oxford Academic

14. Safe dilation protocols
    Description: dilate pupils in clinic with monitoring when needed. Purpose: examine lens position and retina safely. Mechanism: controlled pharmacologic dilation under supervision.

15. Laser peripheral iridotomy (LPI) consideration (non-incisional)
    Description: laser creates a tiny hole in the iris for fluid flow in true pupillary block. Purpose: reduce angle-closure risk if block is documented. Mechanism: bypasses iris-lens channel. (Effectiveness varies in microspherophakia; often a bridge to lens surgery.) EyeWiki

16. Activity modification
    Description: avoid contact sports without protection; avoid positions that increase facial venous pressure for long periods. Purpose: protect blebs and zonules. Mechanism: lowers mechanical and pressure spikes.

17. Allergy control
    Description: treat allergies that cause itching/rubbing (cool compresses, doctor-approved drops). Purpose: prevent rubbing. Mechanism: reduces itch-rub cycle.

18. Infection-prevention habits
    Description: hand hygiene; avoid swimming with unhealed bleb leaks or fresh wounds. Purpose: prevent conjunctival/bleb infection. Mechanism: lowers pathogen exposure.

19. Scleral lens avoidance over blebs
    Description: do not wear rigid scleral lenses that sit on blebs. Purpose: avoid pressure-induced bleb damage. Mechanism: prevents chronic compression.

20. Psychosocial support
    Description: counseling, peer groups, vision-rehab services. Purpose: support child/family coping with a rare condition. Mechanism: improves adherence and quality of life.

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Drugs commonly used to treat complications in Traboulsi syndrome

(class • typical adult dose & timing • purpose • mechanism • common side effects)

These medicines treat complications (pressure spikes, inflammation, surface symptoms). The exact plan depends on lens position, angle status, and whether blebs are leaking (low pressure). Do not self-medicate.

1. Topical beta-blocker (e.g., timolol 0.5% once–twice daily)
   Purpose: lower high IOP. Mechanism: reduces aqueous humor production. Side effects: bradycardia, bronchospasm risk in asthma/COPD.

2. Topical carbonic anhydrase inhibitor (dorzolamide 2% TID or brinzolamide 1% TID)
   Purpose: lower IOP. Mechanism: decreases aqueous production in ciliary body. Side effects: stinging, bitter taste.

3. Oral acetazolamide (250–500 mg 2–4×/day short term)
   Purpose: rapid IOP reduction before surgery or when angle is at risk. Mechanism: systemic CAI. Side effects: paresthesias, fatigue, kidney stone risk, metabolic acidosis—avoid in sulfa allergy; caution in children. Glaucoma Today

4. Alpha-2 agonist (brimonidine 0.1–0.2% TID)
   Purpose: lower IOP. Mechanism: decreases aqueous production and increases uveoscleral outflow. Side effects: dry mouth, fatigue; avoid in infants.

5. Prostaglandin analog (latanoprost 0.005% nightly)
   Purpose: chronic IOP control—use with caution if bleb is leaking or eye is inflamed. Mechanism: increases uveoscleral outflow. Side effects: redness, lash growth, periocular darkening.

6. Cycloplegic (atropine 1% up to BID short bursts)
   Purpose: relieve ciliary spasm; in microspherophakia/pupillary-block risk, cycloplegia can pull lens posteriorly and help; miotics (like pilocarpine) can worsen block in these eyes. Mechanism: relaxes ciliary muscle; widens iris-lens channel. Side effects: light sensitivity, blurred near vision. Lippincott JournalsEyeWikiPMC

7. Topical corticosteroid (prednisolone acetate 1% QID then taper)
   Purpose: calm anterior-segment inflammation (post-op or with surface disease). Mechanism: anti-inflammatory. Side effects: steroid response IOP rise, delayed healing—in specialist care only.

8. Topical antibiotic (short course) for a proven or high-risk bleb leak (e.g., moxifloxacin QID)
   Purpose: reduce infection risk until a leak is sealed. Mechanism: broad-spectrum coverage. Side effects: surface irritation; resistance concerns—short, targeted use only. PMC

9. Hypertonic saline 5% drops/ointment
   Purpose: corneal edema comfort if pressure fluctuations or hypotony cause swelling. Mechanism: draws fluid out of cornea. Side effects: stinging.

10. Lubricants (preservative-free tears/gel, QID–hourly as needed)
    Purpose: comfort, protect thin conjunctiva over blebs. Mechanism: improves tear film, reduces shear.

Critical caution: If a spontaneous bleb is leaking (positive Seidel test, “wet spot,” sudden blur), do not use pressure-lowering drops unless your ophthalmologist explicitly says so—lowering pressure further can worsen hypotony. Seek urgent care. PMC

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Dietary “molecular” supplements

There are no vitamins that fix ASPH mutations. But general eye-nutrition can support retinal health, especially if other conditions (like AMD later in life) appear. Evidence is strongest for the AREDS2 formula in intermediate AMD—not for Traboulsi syndrome itself. In simple terms: supplements can support overall eye health but cannot prevent lens slippage or blebs. National Eye Institute+2National Eye Institute+2

1. AREDS2 blend (Vitamin C ~500 mg, Vitamin E ~400 IU, Zinc ~80 mg as zinc oxide, Copper ~2 mg, Lutein 10 mg, Zeaxanthin 2 mg daily)
   Function: supports macular health in intermediate AMD. Mechanism: antioxidant/anti-oxidative stress. Note: no beta-carotene—safer for current/former smokers. National Eye Institute+1

2. Lutein (10 mg) & Zeaxanthin (2 mg)
   Function: macular pigment support. Mechanism: filters blue light/antioxidant; preferred over beta-carotene. PubMedJAMA Network

3. Omega-3 fatty acids (EPA/DHA 1–2 g/day with meals)
   Function: general retinal/tear-film support. Mechanism: anti-inflammatory; note: AREDS2 found no added benefit for AMD progression, but may help dry-eye symptoms. Iowa Now

4. Vitamin D (check level; replete if low)
   Function: overall immune/ocular surface health. Mechanism: immune modulation (indirect).

5. B-complex (esp. if homocysteine elevated for other reasons)
   Function: vascular/nerve support. Mechanism: co-factors in methylation pathways.

6. Vitamin A (dietary only; supplement only if deficient)
   Function: rod function (night vision). Mechanism: retinal chromophore. Avoid high-dose pills unless deficiency is proven.

7. Zinc (usually already in AREDS2)
   Function: retinal enzyme cofactor. Mechanism: antioxidant pathway support—pair with copper to avoid anemia. National Eye Institute

8. Vitamin C (200–500 mg/day if not using AREDS2)
   Function: antioxidant support. Mechanism: scavenges reactive oxygen species.

9. Vitamin E (100–200 IU/day if not using AREDS2; avoid excess)
   Function: antioxidant. Mechanism: membrane protection.

10. Balanced multivitamin
    Function: fills general dietary gaps. Mechanism: broad micronutrient coverage.

Bottom line: Supplements are supportive; they do not treat lens instability, blebs, or ASPH mutation. Food-first is best; pills are secondary. National Eye Institute

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Regenerative, stem cell” drugs

There are no approved stem-cell or gene therapies for Traboulsi syndrome today. Be very careful with clinics selling “stem cell eye injections” or IV “exosomes.” These have caused blindness in real patients. If anyone offers this for Traboulsi syndrome, treat it as unsafe and unproven. New England Journal of MedicineAmerican Academy of Ophthalmology

1. Unapproved stem-cell injections
   Dose/mechanism: often adipose-derived cells injected into the eye or given IV; marketed as “regenerative.” Risk: severe inflammation, retinal detachment, infection, blindness. Status: Not FDA-approved; strongly discouraged. New England Journal of MedicineAmerican Academy of OphthalmologyU.S. Food and Drug Administration

2. Exosome products
   Mechanism claimed: cell-signaling. Status: marketed without approval; FDA warns consumers; safety unknown. U.S. Food and Drug Administration

3. “Immunity boosters”
   Mechanism claimed: vague. Status: no evidence for Traboulsi syndrome; avoid expensive, unregulated products.

4. Gene therapy concept (future)
   Idea: correcting ASPH defects or downstream effects. Status: theoretical for this condition; no active approved therapy.

5. Amniotic membrane drops/serum tears
   Use: surface healing in other contexts; can help comfort if surface disease is severe (doctor-made autologous serum). Status: supportive, not disease-modifying.

6. Clinical trials
   Action: if a regulated trial appears in the future, your doctor can review it. Never pay for “trial” injections outside a regulated study. Pew Charitable Trusts

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Surgeries

1. Clear lens extraction (lensectomy) ± intraocular lens (IOL) fixation
   What: remove subluxated/spherophakic lens; sometimes place a special IOL (scleral-fixated, iris-claw, or other techniques chosen by the surgeon). Why: treats pupillary block/angle crowding, reduces high myopia from a spherical lens, and stabilizes the visual axis. Notes: challenging capsulorhexis; careful IOL choice due to weak zonules. Lippincott JournalsPMC

2. Laser peripheral iridotomy (LPI)
   What: tiny laser hole in iris. Why: relieve true pupillary block if present; sometimes temporary or insufficient if lens remains forward; still helpful as a bridge to lens surgery. EyeWiki

3. Bleb leak repair (conjunctival advancement/patch/glue)
   What: surgically close leaking spontaneous bleb (or persistent leak despite bandage lens). Why: prevent infection and raise pressure back to safe range. PMC

4. Glaucoma surgery (tube shunt or selected filtration procedures)
   What: if IOP stays high despite meds and lens surgery, a tube shunt may be chosen; filtering surgery is tricky because spontaneous or fragile bleb tissue already exists. Why: protect optic nerve long-term. (Choice is individualized by a glaucoma surgeon.)

5. Pars plana vitrectomy
   What: if the lens dislocates backward into the vitreous or if there are retinal issues, a vitrectomy may be needed; may combine with lens removal or IOL fixation. Why: restore a stable optical path and protect retina.

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Preventions

1. Genetic counseling for families (autosomal-recessive). PubMed

2. Regular eye exams (schedule set by your specialist).

3. Protective eyewear during sports/work.

4. No eye rubbing; allergy control to reduce itch.

5. Avoid contact lenses that press on a bleb (especially scleral lenses).

6. Know bleb-leak signs (wet spot, sudden blur) and act fast. PMC

7. Prompt treatment of pressure spikes to protect the optic nerve.

8. Care with medications that can worsen angle closure (tell every doctor you have lens/angle issues). morancore.utah.edu

9. Healthy lifestyle (sleep, nutrition, sun/UV protection).

10. Vaccination & infection hygiene if you’ve had leaks or recent surgery (reduce infection risk).

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When to see a doctor (red flags)

• Sudden blur, halos, severe eye pain, headache, nausea/vomiting → possible acute angle closure. Emergency. EyeWiki

• A “wet” spot on the eye surface, tears running down the cheek, or stinging in one area → possible bleb leak. Urgent. PMC

• New floaters/flashes or a curtain over vision → possible retinal problem. Urgent.

• Any trauma to the eye—especially if you know you have spontaneous blebs—same day assessment.

• Gradual peripheral vision loss, glare, or increasing blur → book a prompt glaucoma/lens review.

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What to eat and what to avoid

Eat more: leafy greens (spinach, kale), orange/yellow vegetables (peppers), citrus/berries (vitamin C), nuts/seeds (vitamin E), seafood 1–2×/week (omega-3s), beans/whole grains (zinc and fiber). These support overall eye health, though they do not fix the genetic problem. National Eye Institute

Avoid or limit: tobacco smoke, very high-dose beta-carotene supplements if you’re a current or former smoker (use lutein/zeaxanthin instead), ultra-processed foods, and excessive alcohol. National Eye Institute+1

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Frequently Asked Questions

1. Is Traboulsi syndrome inherited?
   Yes. Most cases are autosomal recessive (both parents are carriers). PubMed

2. Which gene is involved?
   ASPH (aspartyl/asparaginyl β-hydroxylase). PubMed

3. What are the main eye problems?
   Lens dislocation, high myopia, anterior-segment changes, and spontaneous filtering blebs that can leak; pressure can go too high (glaucoma) or too low (hypotony). PMC

4. Why do some people resemble Marfan syndrome?
   There is overlap in features because ASPH affects EGF-domain proteins also involved in connective tissue. But the genetics are different. Oxford Academic

5. Can glasses cure it?
   Glasses improve focus but do not stop lens slippage or bleb formation.

6. Are miotic drops like pilocarpine safe?
   Often no in microspherophakia/forward lens: they can worsen pupillary block. Cycloplegics are often preferred. The specialist decides. EyeWikiPMC

7. Does laser (LPI) fix the problem?
   It can help if there’s true pupillary block, but many patients still need lens surgery to open the angle long-term. EyeWiki

8. What if a bleb leaks?
   It’s urgent. Doctors may use a bandage lens, glue/patch, antibiotics, or surgery to close it and prevent infection. PMC

9. Will I need surgery?
   Many patients eventually need lens extraction to prevent/block angle closure and to stabilize vision; glaucoma or bleb repairs are added if needed. Lippincott Journals

10. Is there a cure or gene therapy?
    No approved cure or gene therapy yet. Management focuses on protecting vision. PubMed

11. Are stem-cell treatments safe for this?
    No—avoid. Unapproved stem-cell eye injections have blinded patients. Only consider regulated clinical trials your ophthalmologist recommends. New England Journal of MedicineAmerican Academy of Ophthalmology

12. Can diet or vitamins fix the syndrome?
    No. Diet supports general eye health; AREDS2 helps certain AMD patients, not Traboulsi syndrome itself. National Eye Institute

13. Will my children get it?
    If you and your partner are carriers, each pregnancy has a 25% chance of being affected. A genetics clinic can guide you. PubMed

14. How common is it?
    Extremely rare; first described in the mid-1990s; cases reported across multiple countries. PMC

15. What is the long-term outlook?
    Variable. With early detection, timely lens surgery when indicated, careful glaucoma monitoring, and fast treatment of bleb leaks, many people preserve useful vision. PMC

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: August 28, 2025.