Weill-Marchesani Syndrome (WMS)

Types of Weill-Marchesani Syndrome
Causes
Common Symptoms and Signs
Diagnostic Tests
Non-pharmacological treatments (therapies and others)
Drug treatments
Dietary molecular supplements
Regenerative / stem cell” drugs
Surgeries
Preventions
When to see doctors
What to eat” and “what to avoid”
Frequently Asked Questions

Weill-Marchesani Syndrome (WMS) is a rare, inherited connective-tissue condition that affects the eyes, the skeleton (bones and joints), and sometimes the heart. In everyday terms, people with WMS are usually short in height, have short fingers and toes (brachydactyly), and stiff joints. In the eyes, the most distinctive feature is a small, round, abnormally shaped lens called microspherophakia. That lens can sit too far forward or become dislocated (ectopia lentis). Because the lens is small and round, the front chamber of the eye is shallow, and the eye’s drainage angle can close, leading to sudden high eye pressure (angle-closure glaucoma). Vision problems like short-sightedness (high myopia) and blurry vision are common. Some patients also have heart valve problems and a stocky body build with a distinct facial appearance.

Weill-Marchesani Syndrome (WMS) is a rare, inherited connective-tissue disorder. It mainly affects the eyes, skeleton, and sometimes the heart. People with WMS are usually short in height, have short, broad fingers (brachydactyly), stiff joints, and eye changes such as a small, round and thick lens called microspherophakia. That small round lens can shift from its normal position (ectopia lentis) and can block the natural fluid flow inside the eye, causing sudden or chronic high eye pressure (glaucoma). Vision problems like severe short-sightedness (high myopia) are common.

Biologically, WMS is caused by changes (mutations) in genes that build and organize the extracellular matrix (ECM)—the “scaffolding” that holds tissues together. These genes help form microfibrils (tiny fibers) that support the lens’ suspension fibers (ciliary zonules) and the connective tissues in bone, joints, and heart valves. When these building instructions are faulty, the lens is shaped differently and supported poorly, and the rest of the body shows matching connective-tissue signs.

Types of Weill-Marchesani Syndrome

1) Autosomal Recessive WMS (AR-WMS).
In this type, a child inherits one non-working copy of the gene from each parent. The parents are typically healthy “carriers.” AR-WMS often shows the classic picture: short stature, brachydactyly, joint stiffness, and microspherophakia with or without lens dislocation. Two well-known genes here are ADAMTS10 and LTBP2. A third, ADAMTS17, can produce a very similar or “WMS-like” picture. The phrase autosomal recessive means the condition appears when both copies of the gene in a cell are altered.

2) Autosomal Dominant WMS (AD-WMS).
In this type, one altered copy of the gene is enough to cause the condition, and it can pass directly from an affected parent to a child with a 50% chance in each pregnancy. The most recognized gene here is FBN1, which encodes fibrillin-1, a core component of microfibrils. AD-WMS shares similar eye and skeletal features with the recessive form but sometimes shows variable severity, even within the same family.

3) WMS-like Phenotypes (Overlapping Conditions).
Some people have a clinical picture very close to WMS but with gene changes that place them in a neighboring diagnosis (for example, ADAMTS17-related WMS-like syndrome). Clinically, these patients have microspherophakia, short stature, brachydactyly, and glaucoma risk, so the eye care and safety steps are essentially the same, even if the exact gene label differs.

4) Syndromic Variants with Predominant Eye Disease.
A few families show mostly eye manifestations (microspherophakia, lens shift, angle-closure), with milder skeletal signs. This matters for screening: even when the hands look normal, the eyes still need proactive monitoring for pressure spikes.

5) Genotype-Positive / Phenotype-Variable WMS.
Two relatives can carry the same disease-causing variant but have differences in height, hand shape, lens stability, and glaucoma risk. This variable expressivity is common in connective-tissue conditions and is one reason family-wide eye checks are recommended.

Causes

Note: In genetics, “cause” refers to how and why a syndrome happens. For WMS, causes center on gene changes that derail microfibril and zonule biology, plus the ways those changes show up in the body.

ADAMTS10 loss-of-function (recessive).
When both ADAMTS10 copies are not working, microfibrils do not assemble or function normally, weakening zonular fibers that hold the lens, leading to microspherophakia and lens instability.
LTBP2 loss-of-function (recessive).
LTBP2 anchors components that interact with the lens zonules and ECM. Without it, zonular fibers are fragile, the lens sits forward or moves, and angle closure is more likely.
ADAMTS17 pathogenic variants (recessive; WMS-like).
ADAMTS17 helps with microfibril maintenance. Variants produce a WMS-like picture with small spherical lenses and glaucoma risk.
FBN1 pathogenic variants (dominant).
FBN1 makes fibrillin-1, a structural protein in microfibrils. Certain FBN1 changes yield a compact, spherophakic lens, short stature, and brachydactyly—a WMS pattern instead of a Marfan-like pattern.
Compound heterozygosity.
In recessive WMS, a person may inherit two different harmful variants in the same gene (e.g., ADAMTS10), one from each parent. The combined effect still disrupts the same pathway.
De novo dominant variants.
Sometimes a new (de novo) FBN1 change occurs in a child even if neither parent has it. This new variant can cause AD-WMS in that child and be passed to future children.
Consanguinity (shared ancestry).
Parents who are biologically related have a higher chance of carrying the same rare recessive variant, increasing the likelihood of AR-WMS in offspring.
Defective microfibril assembly.
Regardless of which gene is involved, poor microfibril building weakens the scaffold that supports the lens and connective tissues.
Fragile lens zonules.
Zonules are the “springs” suspending the lens. If they are thin or easily broken, the lens rounds up (microspherophakia) and can shift position, causing glare, blur, and pressure spikes.
Abnormal TGF-β signaling.
FBN1 and LTBP2 help regulate TGF-β, a growth signal. When regulation fails, the eye’s front anatomy and connective tissues develop abnormally, predisposing to glaucoma and joint issues.
Faulty proteolytic processing (ADAMTS10/17).
ADAMTS proteins are enzymes that fine-tune ECM components. When they are defective, microfibrils don’t mature correctly, harming lens support.
Disrupted lens growth pattern.
Because the capsule-zonule-ECM unit is unstable, the lens tends to be small and spherical, not the usual oval, which narrows the anterior chamber.
Anterior segment crowding.
A round, forward lens leaves less room in the front chamber, promoting angle closure when the pupil dilates or when the lens shifts.
Growth plate ECM changes.
The same ECM issues affect growth plates in bone, causing short stature and short fingers.
Heart valve ECM changes.
Microfibril abnormalities can stiffen or deform valve tissue, producing murmurs or valvular dysfunction (e.g., mitral involvement).
Copy-number variants (deletions/duplications).
Sometimes whole chunks of a gene region (e.g., LTBP2) are missing or duplicated, disrupting gene function and causing WMS.
Splice-site variants.
Changes at the junctions where gene pieces are joined can make faulty proteins that fail to support the lens and connective tissues.
Missense variants affecting key domains.
A single DNA “letter” swap can alter a critical protein domain, weakening microfibril binding or enzyme activity.
Nonsense/frameshift variants (truncating).
These changes create short, incomplete proteins or no protein at all, producing a strong loss-of-function effect.
Founder variants in specific populations.
In some regions, an ancestral variant becomes relatively common, producing clusters of WMS cases in that community.

Common Symptoms and Signs

Short stature.
Height is below average for age and sex because growth plate ECM does not behave normally.
Short fingers and toes (brachydactyly).
Hands and feet look compact; measuring finger bones confirms shortened segments.
Joint stiffness.
Elbows, wrists, and fingers often do not bend fully; everyday movements can feel tight.
Stocky build with broad hands.
A solid body frame with broad palms is common and part of the skeletal pattern.
Distinct facial features.
A broad nasal bridge and slightly flattened midface may be noted; this is subtle but helps recognition.
Blurry vision from refractive error.
The round lens causes strong focusing power, leading to short-sightedness (myopia) and blur without glasses.
Microspherophakia (small, spherical lens).
This is the signature eye feature; it crowds the front of the eye and raises glaucoma risk.
Lens dislocation (ectopia lentis).
Weak zonules let the lens shift—people may notice sudden blur, glare, double vision, or a “shaking” iris (iridodonesis).
Shallow anterior chamber.
The space between the cornea and lens is narrow, especially when the pupil enlarges.
Angle-closure attacks.
Eye pressure can spike suddenly with pain, headache, halos around lights, nausea, and redness—an emergency.
Chronic glaucoma.
Even without attacks, pressure can creep up, damaging the optic nerve and side vision over time.
Early cataract.
The lens may become cloudy earlier in life due to abnormal structure and instability.
Light sensitivity and glare.
The lens’ abnormal curve and position cause glare in bright conditions, especially at night.
Reduced focusing flexibility.
Because the lens and zonules are abnormal, accommodation (near focusing) is inefficient, causing eye strain.
Heart valve symptoms (subset).
Some individuals notice fatigue, shortness of breath, or a murmur due to valve involvement.

Diagnostic Tests

A) Physical Exam

Anthropometric measurements (height, weight, arm-span).
Measures short stature and body proportions. An arm-span to height ratio may help distinguish WMS from other syndromes.
Hand and foot examination (brachydactyly measures).
A clinician measures finger lengths and hand proportions to document short digits, a core skeletal clue.
Joint range-of-motion assessment.
Using a goniometer, the examiner documents limited bending/extension, supporting the diagnosis and guiding therapy.
Cardiovascular exam (murmurs, blood pressure).
Listening for heart murmurs screens for valve disease; blood pressure checks are routine for overall health and surgical planning.

B) Manual Tests

Visual acuity and refraction (Snellen/auto-refraction).
Determines baseline vision and degree of myopia. Accurate glasses help daily function and reduce eye strain.
Near point and accommodation assessment.
Checks how well eyes focus up-close; abnormalities are common with lens/zonule issues.
Penlight “shadow” test (oblique illumination).
A simple clinic test that suggests a shallow anterior chamber and angle-closure risk without special machines.
Applanation tonometry (intraocular pressure).
Measures eye pressure. In WMS, pressure may be high at baseline or spike during angle closure—detecting this early protects vision.

C) Lab & Pathological Tests

Targeted gene panel sequencing (ADAMTS10, LTBP2, ADAMTS17, FBN1).
A blood or saliva test searches the known WMS genes. Finding a pathogenic variant confirms the diagnosis.
Sanger confirmation & family segregation testing.
A precise method to verify the variant and check who else in the family carries it—crucial for counseling and screening.
Prenatal genetic testing when indicated (CVS/amniocentesis).
If a familial variant is known, prenatal testing can identify an affected pregnancy and guide perinatal planning.
Copy-number variant (CNV) analysis / exon-level deletion-duplication.
Catches missing or extra gene segments that regular sequencing might miss, important for LTBP2/ADAMTS10 cases.

D) Electrodiagnostic Tests

Visual evoked potentials (VEP).
Assesses the optic pathway from the eye to the brain. Useful if glaucoma is advanced or if visual function seems worse than expected.
Pattern electroretinography (pERG).
Evaluates retinal ganglion cell function—helpful in glaucoma to detect early damage.
Electrooculography (EOG).
Measures retinal pigment epithelium function. Not specific to WMS, but can help exclude other retinal conditions when the picture is mixed.

E) Imaging Tests

Slit-lamp biomicroscopy (with dilation).
The main eye exam to see the lens shape, detect microspherophakia, look for zonular weakness, and check for lens dislocation or early cataract.
Anterior segment OCT or ultrasound biomicroscopy (UBM).
Cross-section imaging shows anterior chamber depth, angle crowding, lens size/position, and zonules, informing glaucoma prevention or surgery.
Biometry (A-scan/IOLMaster/lenstar).
Measures axial length, anterior chamber depth, and lens thickness. Critical for glasses strength and surgical planning.
Optic nerve and macular OCT (with RNFL/GCC analysis).
Quantifies nerve fiber layer and ganglion cells to detect/track glaucoma damage from high pressure.
Hand/wrist X-rays and echocardiography (as indicated).
X-rays document brachydactyly pattern; echocardiography checks valve structure/function when a murmur or symptoms are present.

Non-pharmacological treatments (therapies and others)

(Each item has Description → Purpose → Mechanism in simple terms.)

Regular ophthalmology follow-up
Description: Comprehensive eye exams (pressure, angles, lens position, optic nerve, refraction) every 3–12 months depending on risk.
Purpose: Catch lens displacement or pressure rises early.
Mechanism: Monitoring allows fast action before the optic nerve is harmed.
Personalized low-vision support
Description: High-index spectacles, contact lenses, magnifiers, electronic readers, contrast enhancement.
Purpose: Improve functional vision despite high myopia or lens issues.
Mechanism: Optics and magnification sharpen and enlarge images reaching the retina.
Lighting and contrast optimization
Description: Task lighting, anti-glare filters, high-contrast reading materials.
Purpose: Reduce eye strain, improve reading speed.
Mechanism: Better lighting increases retinal signal quality.
Protective eyewear
Description: Polycarbonate safety glasses for sports, workshop tasks, or crowded environments.
Purpose: Prevent trauma that could dislocate a fragile lens or trigger angle closure.
Mechanism: Physical barrier protects the eye from impact.
Education about “angle-closure” symptoms
Description: Teach warning signs—sudden eye pain, headache, halos, nausea, blurred vision.
Purpose: Enable urgent care for acute glaucoma.
Mechanism: Rapid recognition → rapid treatment → optic nerve protection.
Posture and head-position awareness
Description: Avoid prolonged face-down or tight neck positions that may worsen angle crowding.
Purpose: Lower risk of angle closure episodes in susceptible eyes.
Mechanism: Gentle positioning reduces forward lens-iris contact.
Medication safety counseling (non-drug step)
Description: Always show your “angle-closure/glaucoma risk” card to clinicians.
Purpose: Avoid drugs that can trigger angle closure (e.g., strong miotics, certain decongestants).
Mechanism: Prevention by avoiding high-risk agents.
Warm compresses and lid hygiene if dry-eye coexists
Description: Gentle heat and clean lids daily.
Purpose: Improve comfort and tear film quality.
Mechanism: Loosens meibum and stabilizes the tear layer for clearer vision.
Physical therapy for joint stiffness
Description: Guided stretching, range-of-motion, and gentle strengthening.
Purpose: Maintain mobility and reduce pain.
Mechanism: Regular movement remodels soft tissues and preserves function.
Occupational therapy (OT)
Description: Task modification, adaptive tools, splints if needed for hands.
Purpose: Improve daily activities (writing, opening jars, computer use).
Mechanism: Ergonomics reduces strain on stiff joints and short fingers.
Low-impact aerobic activity
Description: Walking, cycling, swimming 150 minutes/week as tolerated.
Purpose: Support heart health, weight control, joint function.
Mechanism: Improves circulation and reduces systemic risk factors that can affect eyes and heart.
Joint heat/ice strategies
Description: Local heat before activity; ice after overuse.
Purpose: Reduce stiffness and post-activity soreness.
Mechanism: Temperature therapy modulates blood flow and nerve signaling.
Hand therapy and fine-motor training
Description: Dexterity drills, grip aids, adaptive keyboards or pens.
Purpose: Enhance precision tasks despite brachydactyly.
Mechanism: Repetition builds neuromuscular coordination.
Pain-coping skills (CBT/mindfulness)
Description: Short, structured sessions or apps.
Purpose: Reduce the impact of chronic discomfort on daily life.
Mechanism: Retrains attention and reduces pain amplification.
Heart screening schedule
Description: Baseline and periodic echocardiograms if recommended.
Purpose: Detect valve issues early.
Mechanism: Ultrasound shows valve structure and function before symptoms.
Genetic counseling
Description: Pre-conception or family planning counseling; discuss inheritance and testing.
Purpose: Informed choices and early pediatric surveillance.
Mechanism: Identifies carrier status and recurrence risks.
School/work accommodations
Description: Seating near board, large-print materials, flexible deadlines after surgery.
Purpose: Equal educational and job performance.
Mechanism: Reduces visual and physical barriers.
Fall-prevention strategies
Description: Home lighting, remove trip hazards, stable footwear.
Purpose: Avoid head/eye injuries.
Mechanism: Environmental safety lowers trauma risk.
Emergency plan card
Description: Keep a wallet card: “WMS with microspherophakia—risk of angle closure” + clinic contact.
Purpose: Speed correct treatment in emergencies.
Mechanism: Guides first responders and ER teams.
Vaccination and general wellness
Description: Age-appropriate immunizations; sleep, nutrition, hydration.
Purpose: Support recovery if surgery occurs; protect overall health.
Mechanism: A healthier baseline improves outcomes.

Drug treatments

Important: medication choices and doses must be individualized by your ophthalmologist/cardiologist. Doses below are common adult ranges; pediatric dosing differs.

Acetazolamide (oral carbonic anhydrase inhibitor)
Class: Systemic aqueous suppressant.
Dose/Time: 250 mg by mouth 2–4 times daily, or 500 mg SR twice daily for short-term use.
Purpose: Rapidly lower intraocular pressure (IOP), including acute angle-closure risk.
Mechanism: Decreases aqueous humor production in the ciliary body.
Side effects: Tingling fingers, frequent urination, fatigue, nausea, kidney stones, low potassium, sulfa-allergy issues.
Mannitol (IV hyperosmotic agent)
Class: Hyperosmotic diuretic.
Dose/Time: 0.5–1.0 g/kg IV over 30–60 min in acute IOP crisis (hospital setting).
Purpose: Emergency reduction of very high IOP when vision is threatened.
Mechanism: Draws fluid from the eye and brain into the bloodstream (osmotic gradient).
Side effects: Headache, nausea, fluid/electrolyte shifts, contraindicated in severe kidney or heart failure.
Timolol 0.25–0.5% (topical beta-blocker)
Class: Topical aqueous suppressant.
Dose/Time: 1 drop in affected eye(s) twice daily.
Purpose: Lower IOP chronically.
Mechanism: Blocks beta receptors in ciliary epithelium, reducing aqueous production.
Side effects: Slow heart rate, low blood pressure, bronchospasm—use caution in asthma/COPD, heart block.
Brimonidine 0.1–0.2% (topical alpha-2 agonist)
Class: Aqueous suppressant + uveoscleral outflow enhancer.
Dose/Time: 1 drop 2–3 times daily.
Purpose: Additional IOP lowering or add-on therapy.
Mechanism: Reduces aqueous formation and increases outflow.
Side effects: Dry mouth, fatigue, allergy/redness; avoid in infants.
Dorzolamide 2% or Brinzolamide 1% (topical CAIs)
Class: Topical carbonic anhydrase inhibitors.
Dose/Time: 1 drop 2–3 times daily.
Purpose: Add-on or alternative to timolol/brimonidine.
Mechanism: Decrease aqueous humor production.
Side effects: Bitter taste, stinging; avoid if sulfa allergy is severe.
Latanoprost 0.005% (topical prostaglandin analog)
Class: Uveoscleral outflow enhancer.
Dose/Time: 1 drop nightly.
Purpose: Once-daily IOP control.
Mechanism: Remodels outflow tissues to increase fluid drainage.
Side effects: Redness, eyelash growth, iris darkening, periocular pigmentation.
Atropine 1% (topical cycloplegic)
Class: Antimuscarinic cycloplegic.
Dose/Time: 1 drop once or twice daily short-term in selected cases.
Purpose: Pull the lens backward (posteriorly) to relieve pupillary block created by a spherical lens; relieve ciliary spasm.
Mechanism: Paralyzes ciliary muscle, dilates pupil, deepens anterior chamber in some eyes.
Side effects: Light sensitivity, blurred near vision; systemic anticholinergic effects if overused. Avoid if it worsens angle crowding—must be supervised by an ophthalmologist.
Prednisolone acetate 1% (topical steroid) — if inflammatory component
Class: Anti-inflammatory corticosteroid.
Dose/Time: 1 drop 4–6 times/day then taper per doctor.
Purpose: Calm inflammation after surgery or if uveitis coexists.
Mechanism: Blocks inflammatory pathways and reduces swelling.
Side effects: Can raise IOP, cataract risk; infection risk—use only when indicated.
Netarsudil 0.02% (topical Rho-kinase inhibitor)
Class: Outflow enhancer (trabecular).
Dose/Time: 1 drop nightly.
Purpose: Additional IOP lowering when others insufficient.
Mechanism: Relaxes trabecular meshwork to increase aqueous outflow.
Side effects: Conjunctival redness, corneal verticillata, mild discomfort.
Systemic analgesics (e.g., acetaminophen; or NSAIDs when appropriate)
Class: Pain reliever; NSAIDs are anti-inflammatory.
Dose/Time: Acetaminophen 500–1,000 mg every 6–8 h PRN (max per label/clinician). NSAID dosing varies (use only if safe for you).
Purpose: Short-term relief of peri-ocular or musculoskeletal aches.
Mechanism: Central pain modulation; NSAIDs inhibit prostaglandins.
Side effects: Acetaminophen—liver risk if overdosed. NSAIDs—GI bleeding, kidney risk; avoid if contraindicated.

Notes:
• Miotics (like pilocarpine) can worsen pupillary block in microspherophakia and are generally avoided unless a specialist specifically indicates otherwise.
• Heart valve problems in WMS require cardiology-guided medicines (not listed here because they are individualized after echocardiography).

Dietary molecular supplements

Always discuss supplements with your clinician, especially before/after eye surgery or if you take glaucoma drops.

Omega-3 fatty acids (EPA+DHA)
Dose: 1–2 g/day combined EPA+DHA with meals.
Function: Supports tear film and ocular surface comfort; general cardiovascular support.
Mechanism: Anti-inflammatory lipid mediators.
Vitamin C
Dose: 250–500 mg/day (do not exceed if you form kidney stones).
Function: Collagen co-factor; antioxidant.
Mechanism: Aids collagen cross-linking and scavenges free radicals.
Lutein + Zeaxanthin
Dose: Lutein 10 mg + Zeaxanthin 2 mg/day.
Function: Macular pigment support, glare recovery.
Mechanism: Filters high-energy light and neutralizes oxidative stress in retina.
Coenzyme Q10 (Ubiquinone)
Dose: 100–200 mg/day.
Function: Mitochondrial support; studied as adjunct in optic-nerve protection.
Mechanism: Electron transport antioxidant effects.
Magnesium (glycinate or citrate)
Dose: 200–400 mg elemental/day as tolerated.
Function: Muscle relaxation, sleep quality; may help headache.
Mechanism: Calcium-channel modulation, neuromuscular balance.
Vitamin D3
Dose: 1,000–2,000 IU/day unless a lab-guided dose is advised.
Function: Bone, immune modulation.
Mechanism: Nuclear receptor signaling that influences calcium and immune pathways.
Alpha-lipoic acid
Dose: 300–600 mg/day.
Function: Antioxidant recycling; nerve support.
Mechanism: Regenerates other antioxidants (e.g., glutathione).
N-Acetylcysteine (NAC)
Dose: 600 mg once or twice daily.
Function: Glutathione precursor; mucolytic benefits if sinus issues.
Mechanism: Supplies cysteine to boost antioxidant defenses.
Curcumin (with piperine for absorption)
Dose: 500–1,000 mg curcumin/day (standardized extract).
Function: Systemic anti-inflammatory adjunct for joint comfort.
Mechanism: NF-κB pathway modulation.
Balanced multivitamin/mineral
Dose: 1 serving/day per label.
Function: Nutritional “safety net” if intake is inconsistent.
Mechanism: Provides essential micronutrients for tissue repair and general health.

These do not treat the genetic cause of WMS. They are supportive only.

Regenerative / stem cell” drugs

There are currently no approved immune-booster, regenerative, or stem-cell drugs that treat the genetic cause of Weill-Marchesani Syndrome in humans. Offering or advertising such cures is not evidence-based. Below is what is realistic and ethical today:

Autologous or allogeneic stem-cell infusions for WMS
Status: Not approved; investigational only.
Function/Mechanism: Theoretical tissue repair via paracrine signaling.
Risks: Infection, ectopic tissue growth, vision-threatening complications if used periocularly.
Bottom line: Avoid outside regulated clinical trials.
Gene therapy (ADAMTS10/ADAMTS17/FBN1 targeting)
Status: Preclinical/early research areas for related connective-tissue biology.
Function/Mechanism: Replace or edit faulty gene to restore microfibril/zonule biology.
Risks: Unknown long-term effects; delivery challenges.
Bottom line: Promising science, but not a clinical option yet.
iPSC-based tissue modeling
Status: Laboratory research.
Function/Mechanism: Models WMS tissues for drug discovery.
Bottom line: Research tool, not a treatment.
Neuroprotective ocular drops beyond standard of care
Status: Some agents studied (e.g., brimonidine, CoQ10 combinations) as adjuncts.
Bottom line: Adjunctive only, must not replace IOP control.
Regenerative nutrition protocols
Status: Supportive lifestyle (protein, vitamins) as covered in diet—not a drug.
Bottom line: Healthy habits help recovery but do not fix the gene change.
Clinical trials participation
Status: Ethical pathway for cutting-edge options.
Bottom line: If a credible WMS-related trial appears, participation may advance care. Ask your specialist to help verify legitimacy.

Surgeries

Laser Peripheral Iridotomy (LPI)
Procedure: A tiny opening is created with a laser in the iris to bypass a blocked pupil channel.
Why: Prevents or treats pupillary-block angle closure common in microspherophakia, lowering sudden IOP spikes.
Lens extraction (lensectomy) ± intraocular lens (IOL) placement
Procedure: Remove the small, spherical, or displaced lens; sometimes implant an IOL (anterior-chamber, iris-fixated, or scleral-fixated) depending on zonular support and surgeon preference; occasionally planned aphakia with specialty contact lens or glasses.
Why: Relieves angle crowding and pupillary block; improves refractive error and stabilizes vision.
Pars plana lensectomy with anterior vitrectomy
Procedure: Posterior approach to remove a severely subluxated or dislocated lens; remove some vitreous to prevent traction.
Why: When the lens is very unstable or dislocated posteriorly; protects retina and controls IOP.
Trabeculectomy or glaucoma drainage device (tube shunt)
Procedure: Create a new drainage pathway or implant a tube to drain fluid.
Why: Control IOP when medications/laser/lens surgery are not enough to protect the optic nerve.
Orthopedic soft-tissue release (selected cases)
Procedure: Surgery to release severely contracted tendons/soft tissues in hands or other joints.
Why: Improve function when stiffness severely limits daily activities despite therapy.

Cardiac procedures may be needed for significant valve disease—decided by cardiology after imaging.

Preventions

Early diagnosis and regular eye checks (pressure, angles, optic nerve).
Educate about acute angle-closure symptoms and seek emergency care if they occur.
Consider prophylactic LPI in high-risk eyes per specialist judgment.
Avoid trauma: use protective eyewear for sports and risky tasks.
Avoid miotic drops unless an ophthalmologist specifically recommends them.
Share your condition with all clinicians to avoid triggering medications.
Maintain hydration and avoid excessive, rapid fluid loads if you have glaucoma risk.
Manage general health (sleep, exercise, blood pressure) to support eye and heart health.
Keep post-op instructions carefully after any eye surgery.
Genetic counseling for family planning and early child screening.

When to see doctors

Go to emergency care now if you have sudden severe eye pain, a red eye with headache, halos around lights, nausea/vomiting, or a sudden drop in vision—these can mean acute angle-closure glaucoma.
Call your ophthalmologist promptly if you notice new double vision, sudden blur, flashes/floaters, or a dark curtain in vision.
Keep routine visits: typically every 3–12 months with glaucoma testing and lens/angle assessment, and as advised after any surgery.
See cardiology if you have chest pain, palpitations, fainting, shortness of breath, or if your eye doctor/geneticist recommends baseline or periodic heart evaluation.

What to eat” and “what to avoid”

(Diet supports overall healing; it doesn’t cure WMS.)

Eat: Colorful vegetables and fruits daily (antioxidants for tissue health). Avoid: Ultra-processed snacks high in sugar/salt that inflame tissues.
Eat: Lean proteins (fish, eggs, poultry, legumes) to support repair. Avoid: Very low-protein fads that slow recovery.
Eat: Omega-3-rich fish (salmon, sardines) or approved supplements. Avoid: Excess deep-fried foods rich in trans-fats.
Eat: Whole grains and fiber for steady energy. Avoid: Large spikes of refined carbs that worsen fatigue.
Drink: Consistent fluids through the day. Avoid: Very rapid intake of large volumes at once if glaucoma is unstable (can transiently raise IOP).
Eat: Nuts/seeds (walnut, chia, flax) in moderation. Avoid: Oversalted foods if you have blood-pressure/heart concerns.
Include: Dairy or fortified alternatives for calcium + vitamin D (unless contraindicated). Avoid: Extreme calcium restriction without medical reason.
Use: Herbs/spices with anti-inflammatory profiles (turmeric/ginger) in cooking. Avoid: Unregulated “miracle cures” online.
Plan: Balanced meals around surgery dates to support healing. Avoid: Alcohol binges that impair recovery and interact with medicines.
Check: With your doctor before starting any new supplement. Avoid: Combining multiple eye/herbal products without supervision (drop interactions, bleeding risk).

Frequently Asked Questions

1) Is WMS the same as Marfan syndrome?
No. Both are connective-tissue disorders, but WMS usually causes short stature and microspherophakia; Marfan typically causes tall stature with different eye and heart patterns. The genes differ.

2) Why is my lens small and round?
Zonules and microfibrils that shape and hold the lens are abnormal, so the lens grows small and spherical (microspherophakia).

3) Why does WMS cause glaucoma?
The round lens can block fluid flow through the pupil and push the iris forward, narrowing the eye’s drainage angle (pupillary-block angle closure). Pressure rises and can damage the optic nerve.

4) Can glasses fix the problem?
Glasses help refractive error (myopia) but do not fix lens shape, lens instability, or angle closure. Medical and surgical care is often needed.

5) Will I need surgery?
Many people eventually need LPI and/or lens surgery to prevent or treat angle closure or to fix severe lens subluxation.

6) If the lens is removed, will I see clearly?
Vision often improves, but results depend on the retina and optic nerve health. You may need an IOL, contact lens, or glasses after surgery.

7) Can I prevent WMS?
You can’t change the genes, but you can prevent vision loss by regular eye checks, prompt treatment, and safety steps.

8) Are there medicines to reverse WMS?
No. Medicines control pressure, inflammation, and pain but do not change the underlying gene change.

9) Are stem-cell or gene therapies available?
Not yet for WMS. These are research areas. Avoid clinics offering unproven cures.

10) Will my children have WMS?
It depends on the gene and inheritance pattern (autosomal recessive vs dominant). Genetic counseling can estimate the risk.

11) Can sports make lens problems worse?
High-impact sports can increase trauma risk. Use protective eyewear and ask your eye doctor which activities are safe after surgery.

12) Do regular headaches mean angle closure?
Not always. But sudden eye pain with halos and nausea is worrisome—seek urgent eye care.

13) How often should I check eye pressure?
Your ophthalmologist will set the schedule; often every 3–6 months if stable, sooner after surgery or medication changes.

14) What if I live far from an eye surgeon?
Carry your condition card, know the nearest emergency eye center, and schedule planned trips for follow-ups. Tele-ophthalmology may help with interim checks.

15) Can diet or supplements replace surgery or drops?
No. Diet helps overall health, but IOP control and lens management protect vision.

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 30, 2025.

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