Anterior Segment Dysgenesis (ASD)

Anterior segment dysgenesis (ASD) is a group of birth (congenital) conditions where the front parts of the eye—the cornea, iris, lens, and the drainage angle—do not develop normally before birth. Because these parts shape how light enters the eye and how fluid drains out, ASD can cause cloudy corneas, abnormal iris shape, and a higher risk of glaucoma (high pressure in the eye). The look and severity vary widely from person to person because different genes and developmental steps can be involved. EyeWiki+1

Anterior segment dysgenesis is an umbrella name for a group of eye birth-defects where the front parts of the eye do not form normally before birth. These parts include the cornea (the clear window), iris (the colored part), and the drainage tissue at the “angle” that controls eye pressure. Because the structures form abnormally, people with ASD can have cloudy corneas, odd pupil shapes, and high eye pressure (glaucoma) that threatens vision. Well-known examples inside this group are Axenfeld–Rieger spectrum, Peters anomaly, and aniridia (often caused by PAX6 gene changes). ASD often needs lifelong eye care and, sometimes, surgery in childhood to protect vision. NCBI+3NCBI+3NCBI+3

Other names

You may see ASD described by several overlapping names. These often reflect the main structure involved:

• Anterior segment developmental anomalies (ASDA) – an umbrella term for the same family of disorders. EyeWiki

• Anterior chamber cleavage anomalies – an older term that emphasized a development step during eye formation. EyeWiki

• Mesenchymal dysgenesis of the anterior segment – another older phrase. PubMed

• Axenfeld–Rieger anomaly/syndrome (ARS) – iris strands to a prominent Schwalbe line (posterior embryotoxon) with or without systemic findings. NCBI+2Nature+2

• Peters anomaly – central corneal opacity with defects in the back layers of the cornea; adhesions to iris or lens may occur. NCBI+1

• Aniridia (PAX6-related) – reduced or absent iris with pan-ocular involvement. NCBI+1

Types

Think of ASD as a spectrum. Doctors often group patients by the main clinical picture:

1. Axenfeld anomaly – prominent Schwalbe line (posterior embryotoxon) with iris strands to the angle; risk of glaucoma varies. NCBI

2. Rieger anomaly – Axenfeld features plus iris changes (corectopia, polycoria). NCBI

3. Rieger syndrome – Rieger anomaly plus systemic features (dental, facial, umbilical). NCBI

4. Peters anomaly type I – central corneal opacity with defects in Descemet’s membrane/endothelium; iris adhesions common. NCBI

5. Peters anomaly type II – above plus a lens opacity or lens cornea adhesion. NCBI

6. Aniridia (PAX6-related) – partial/near-complete iris absence with foveal hypoplasia and frequent glaucoma/cataract. NCBI+1

7. Iridocorneal dysgenesis (broad label) – angle and iris development problems leading to glaucoma risk. PubMed

Note: These categories overlap, and the same gene can lead to different clinical pictures—another reason ASD is considered a spectrum. PubMed

Causes

ASD is most often genetic. Many causes are changes (variants) in genes that guide neural crest cell migration and eye patterning.

1. PITX2 – transcription factor for anterior segment patterning; classic in ARS; autosomal dominant. Nature+1

2. FOXC1 – transcription factor for neural crest; common in ARS; dosage-sensitive (deletions/duplications). Nature+1

3. PAX6 – master eye gene; causes aniridia with broad anterior segment involvement and glaucoma risk. NCBI+1

4. CYP1B1 – enzyme; variants reported in a subset of Peters anomaly and congenital glaucoma. MD Searchlight

5. PITX3 – transcription factor; linked to anterior segment anomalies including Peters-like changes. PubMed

6. FOXE3 – lens epithelium factor; variants cause lens and corneal development defects. PubMed

7. BMP4 – signaling molecule in early eye development; variants associated with ASD features. PubMed

8. MAF – transcription factor; can contribute to anterior segment and lens anomalies. PubMed

9. LMX1B – transcription factor (Nail-patella syndrome) with angle anomalies and glaucoma risk. PubMed

10. COL4A1/COL4A2 – basement membrane collagens; vascular and ocular dysgenesis including Peters-like changes. PubMed

11. CPAMD8 – complement-related; associated with congenital glaucoma/ASD. Taylor & Francis Online

12. PXDN (peroxidasin) – extracellular matrix crosslinking; corneal opacities and anterior segment defects. Taylor & Francis Online

13. VSX1 – homeobox gene; reported in keratoconus/ASD overlap in some families. PubMed

14. TGFB2/TGFB3 pathway alterations – signaling affecting anterior segment morphogenesis. Taylor & Francis Online

15. SLC4A11 – endothelial dystrophy gene; early corneal edema/opacity can mimic ASD. PubMed

16. Environmental: intrauterine infection (e.g., rubella/CMV) – can disturb corneal/iris development. (Mechanistic reviews list infections among prenatal disruptors.) PubMed

17. Maternal diabetes – hyperglycemia can interfere with ocular morphogenesis. PubMed

18. Teratogens (e.g., retinoic acid imbalance, alcohol) – retinoid and ethanol exposure affect anterior eye formation. PubMed

19. Vitamin A deficiency – key for ocular development; severe deficiency in pregnancy may lead to ocular malformations. PubMed

20. Chromosomal deletions near key genes (e.g., 4q25 near PITX2, 6p25 near FOXC1, 11p13 near PAX6/WT1) – copy-number changes can cause ASD with or without systemic findings (e.g., WAGR with PAX6/WT1). Orpha+1

Common symptoms and signs

1. Blurred or reduced vision – due to corneal opacity, irregular focus, or foveal hypoplasia. NCBI+1

2. Light sensitivity (photophobia) – common when the iris is under-developed or the cornea is cloudy. NCBI

3. Eye redness or irritation – from surface disease or raised pressure. NCBI

4. Tearing (epiphora) – irritation from corneal opacity or glaucoma. NCBI

5. Eye pain or headache – can signal glaucoma. NCBI

6. Halos around lights – from corneal haze or high pressure. NCBI

7. Glare – especially with aniridia or irregular pupils. NCBI

8. Abnormal-looking iris or pupil – corectopia (off-center pupil), polycoria (extra openings), or minimal iris tissue. NCBI+1

9. Visible white/gray spot in the cornea – typical of Peters anomaly. NCBI

10. Nystagmus (shaky eyes) – when vision is poor early in life. NCBI

11. Strabismus (eye misalignment) – linked to reduced vision in one eye. NCBI

12. Reduced contrast and detail – from corneal and foveal abnormalities. NCBI

13. Enlarged or small corneal size – buphthalmos with pressure or microcornea in some types. PubMed

14. Early cataract or lens problems – especially in aniridia or Peters type II. NCBI+1

15. Progressive glaucoma symptoms later in childhood – very frequent in aniridia and ARS. Glaucoma Today+1

Diagnostic tests

A) Physical exam & clinical chairside tests

1. History and family history – many ASD conditions are autosomal dominant; ask about relatives with similar eyes or glaucoma. Nature

2. External inspection – look for abnormal iris, off-center pupils, or corneal haze. NCBI

3. Age-appropriate visual acuity – preferential looking, Teller cards, or Snellen in older patients to gauge vision. NCBI

4. Pupil exam – check size, reactivity, corectopia, polycoria; helps subtype ASD. NCBI

5. Red reflex test – a dim or white reflex can suggest corneal opacity (Peters). NCBI

6. Cycloplegic refraction – looks for high astigmatism or refractive error from corneal shape changes. PubMed

7. Intraocular pressure (tonometry) – elevated pressure points to glaucoma risk and guides treatment. NCBI

8. Slit-lamp biomicroscopy – defines corneal clarity, posterior embryotoxon, iris strands, and adhesions. NCBI

9. Gonioscopy (or infant angle assessment) – directly views the drainage angle for strands and dysgenesis. NCBI

10. Corneal diameter & pachymetry – size and thickness help evaluate buphthalmos, edema, or scarring. NCBI

B) “Manual/functional” orthoptic tests

11. Hirschberg/cover tests – screen for strabismus that may follow poor fixation. NCBI

12. Visual behavior and fixation preference – early amblyopia screening in infants with unilateral opacity. NCBI

13. Contrast sensitivity and glare testing – documents functional burden of corneal haze/iris defects. NCBI

C) Laboratory & pathological / genetic testing

14. Targeted or panel-based genetic testing – looks for variants in PITX2, FOXC1, PAX6, CYP1B1, FOXE3, PITX3, CPAMD8, PXDN, COL4A1, and others; confirms diagnosis, informs family counseling. PubMed+2Nature+2

15. Karyotype/targeted deletion testing – especially if aniridia is present (check for 11p13 deletions involving PAX6/WT1; WAGR risk). NCBI+1

16. TORCH/infection labs (case-by-case) – if prenatal infection is suspected as a contributor. PubMed

D) Electrodiagnostic tests

17. Electroretinography (ERG) – measures retinal function when media opacity limits the view; helps rule out retinal disease contributing to low vision. PubMed

18. Visual evoked potentials (VEP) – assesses the visual pathway in infants/young children when acuity testing is unreliable. PubMed

E) Imaging

19. Anterior segment OCT (AS-OCT) – non-contact cross-sections of cornea, angle, and adhesions; helpful in Peters/ARS. EyeWiki

20. Ultrasound biomicroscopy (UBM) – high-frequency ultrasound to map the drainage angle and ciliary body in opaque corneas. EyeWiki
    (Additional context-based imaging) B-scan ultrasound when the cornea is too cloudy to view the back of the eye; MRI brain/orbits if syndromic neurological features are suspected. PMC

Non-pharmacological treatments (therapies and practical supports)

Below are practical, non-drug actions your care team may use alongside (or before/after) medicines and surgery. These support vision, comfort, and safety. (Descriptions are short here; all are standard pediatric ophthalmology practices for ASD-related disease.)

1. Early, regular pediatric ophthalmology follow-up: Frequent exams catch glaucoma early, monitor corneal clarity, and guide timing of surgery to protect vision. EyeWiki+1

2. Amblyopia therapy (patching/atropine penalization when appropriate): Helps the brain “learn” to see from the better potential eye if one eye is blurrier; best outcomes when started early. EyeWiki

3. Low-vision rehabilitation: Magnifiers, contrast aids, lighting strategies, and school accommodations improve daily function when visual acuity is reduced. EyeWiki

4. Protective eyewear: Polycarbonate glasses reduce injury risk in eyes with structural anomalies or after surgery. EyeWiki

5. Scleral or specialty contact lenses (when cornea allows): Can vault over corneal irregularities to improve vision and comfort; fitted by cornea specialists. EyeWiki

6. Lubrication routines (preservative-free tears/gel): Support the ocular surface in aniridia-associated keratopathy and after corneal surgery. NCBI

7. Lid hygiene & infection avoidance after surgery: Gentle cleaning and drop schedules lower infection and scarring risks post-op. EyeWiki

8. UV and glare control: Broad-brim hats, UV-blocking lenses, and tints reduce light sensitivity (especially with iris defects). NCBI

9. Occupational/educational support (IEP/504 plans): Seat placement, large-print materials, digital zoom, and assistive tech keep school accessible. EyeWiki

10. Genetic counseling for families: Explains inheritance, testing options for relatives, and future pregnancy planning. PMC+1

11. Developmental services: Early-intervention referrals (vision teachers, therapists) build visual skills and independence. EyeWiki

12. Safety planning at home: Edge padding, good lighting, and decluttering reduce injury if depth perception is reduced. EyeWiki

13. Dry-eye self-care (blink breaks, humidification): Especially helpful with aniridia-related surface disease. NCBI

14. Pain/photophobia coping strategies: Dark filters, gradual light transitions, and cool compresses for comfort during flares. EyeWiki

15. Vision-friendly tech: Screen reader features, high-contrast modes, and adjustable font-size on devices. EyeWiki

16. Nutritional adequacy: Ensuring general eye-health nutrients (not disease-specific cures) supports overall child health. EyeWiki

17. Family support groups: Connecting with ASD/ARS/aniridia communities for practical tips and emotional support. PMC

18. Regular pressure-check protocols: Nurse/clinic schedules for IOP monitoring between surgeon visits catch early rises. AAO

19. Contact-lens care training: Reduces infection risk when lenses are used in irregular corneas. EyeWiki

20. Sun/eye-safety education for caregivers: How to spot red-flag symptoms and protect healing eyes after procedures. EyeWiki

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Drug treatments

Important: Medicines help manage problems within ASD (like glaucoma or surface disease). Doses and timing are specialized in children; never start or stop without a pediatric ophthalmologist’s plan.

Glaucoma-directed drops (pediatric use varies; some are off-label and age-restricted):

1. Timolol (beta-blocker): Lowers fluid production to reduce pressure; often first-line short-term in infants but requires heart/breathing monitoring; stinging, slow heart rate, or wheeze can occur. AAO

2. Dorzolamide or Brinzolamide (topical carbonic anhydrase inhibitors): Reduce aqueous production; can be combined with timolol; may cause eye irritation. AAO

3. Acetazolamide (oral CAI, short-term bridge): Temporarily lowers pressure while awaiting surgery; tingling, GI upset, metabolic acidosis risk; dose is weight-based. AAO

4. Latanoprost / Prostaglandin analogs: Increase uveoscleral outflow; effectiveness in infants is variable; can darken iris or increase lash growth. EyeWiki

5. Netarsudil (Rho-kinase inhibitor): Improves outflow via trabecular meshwork; pediatric data are evolving; redness and corneal verticillata possible. EyeWiki

6. Brimonidine (alpha-2 agonist): Lowers production and increases outflow, contraindicated in very young children due to CNS depression risk; used with caution in older kids. AAO

7. Pilocarpine (miotic): Occasionally used to pull the iris away from blocked angles; limited role in congenital cases; can cause brow ache and blur. PMC

Cornea/surface and peri-operative care as needed:

8. Hypertonic saline 5% drops/ointment: Draws water out of a swollen cornea to improve clarity temporarily; stings; short-term effect. EyeWiki

9. Preservative-free lubricants (artificial tears/gel/ointment): Relieve dryness and protect aniridia-related keratopathy; used many times daily as advised. NCBI

10. Topical corticosteroids (e.g., prednisolone acetate): Control inflammation after corneal or glaucoma surgery; monitored closely to avoid steroid-induced pressure rise or infection. EyeWiki

11. Topical antibiotics (fluoroquinolone or equivalent): Short courses around surgery or epithelial defects to prevent infection. EyeWiki

12. Cycloplegics (e.g., atropine for select amblyopia protocols or post-op comfort): Temporarily relax focus and reduce pain/spasm; must be dosed precisely in kids. EyeWiki

13. Topical cyclosporine (off-label in aniridia-associated keratopathy): Immune-modulating drop to reduce surface inflammation and help tear film; burning/irritation possible. NCBI

14. Autologous serum eye drops (biologic, specialist-compounded): Provide growth factors to support epithelial healing in severe surface disease; infection-control protocols are essential. EyeWiki

Other targeted or adjunctive options (individualized):

15. Intraocular pressure (IOP)–lowering combinations (e.g., timolol/dorzolamide): Reduce drop burden while hitting two mechanisms; safety/age limits apply. AAO

16. Antifibrotics in surgery (mitomycin-C, 5-FU, surgeon-applied): Reduce scarring in trabeculectomy but require expert dosing and follow-up. PMC

17. Antiglaucoma oral hyperosmotics (mannitol, peri-op): Temporarily shrink vitreous volume in acute pressure spikes; hospital-monitored. PMC

18. Anti-infectives for keratoplasty prophylaxis (surgeon protocol): Tailored peri-op antibiotic regimens lower graft infection risk. EyeWiki

19. Anti-inflammatory/immune modulation after limbal stem-cell procedures: Steroid and/or calcineurin-inhibitor tapers protect grafts as directed by the surgeon. EyeWiki

20. Glaucoma meds after angle or tube surgery (as needed): Even after surgery, drops may continue to maintain safe pressures over time. PMC

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Dietary molecular supplements

There are no supplements proven to “fix” ASD, but general eye-surface and systemic nutrition can support overall health. Always clear supplements with your child’s doctors.

1. Omega-3 fatty acids (fish/flax oil): May help dry-eye symptoms in some patients and support meibomian gland function; not a treatment for ASD itself. EyeWiki

2. Lutein + Zeaxanthin (AREDS2-type nutrients): Macular pigments supporting retinal health; no evidence they alter ASD anatomy, but safe when used appropriately. EyeWiki

3. Vitamin D (adequacy): General immune and bone health; deficiency correction is reasonable but not ASD-specific therapy. EyeWiki

4. Vitamin A (avoid deficiency; avoid excess): Needed for ocular surface/epithelium; excess can be harmful—use only under medical advice. EyeWiki

5. Balanced multivitamin (age-appropriate): Insurance for gaps in picky eaters; no ASD-specific effect. EyeWiki

6. Antioxidant-rich foods (berries/leafy greens): Whole-food approach for general ocular and systemic wellness. EyeWiki

7. Adequate protein and hydration: Supports healing after surgeries and general growth. EyeWiki

8. Zinc (dietary adequacy): Involved in many ocular enzymes; supplement only if deficient. EyeWiki

9. Probiotics (general GI health): No ASD-specific data; discuss if on frequent antibiotics. EyeWiki

10. Avoid megadoses or unregulated “eye cures”: Some can interact with anesthesia or drops; always disclose supplements to the surgeon. EyeWiki

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Immunity-booster / regenerative / stem-cell therapies

There are no immunity-booster drugs that correct ASD. However, regenerative ocular-surface therapies and cell-based procedures can help selected complications (for example, aniridia-associated keratopathy). These are specialist-only.

1. Autologous serum eye drops (biologic): Patient’s own serum diluted for drops—rich in growth factors that support epithelial healing; dosed multiple times daily under sterile compounding and follow-up. EyeWiki

2. Platelet-rich plasma (PRP) eye drops (biologic): Similar healing concept with platelet growth factors; for severe surface disease, per cornea specialist. EyeWiki

3. Amniotic membrane (in-office graft or self-retained device): Provides a biologic scaffold to calm inflammation and aid epithelial regrowth after defects. EyeWiki

4. Cultivated limbal epithelial transplantation (CLET/SLET): Limbal stem-cell–based surgery to restore the corneal surface in limbal stem-cell deficiency (seen in aniridia); uses autologous or allogeneic sources with systemic immune control as needed. NCBI

5. Recombinant human nerve growth factor eye drops (for neurotrophic keratitis): Not ASD-specific, but in select surface-healing problems the cornea specialist may consider; strict indications and monitoring. EyeWiki

6. Clinical-trial therapies: Gene- or cell-based interventions for specific ASD genes (e.g., PAX6 pathways) are research-stage; families may discuss registries and trials with genetics teams. NCBI+1

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Surgeries

Surgery is common in ASD, mainly for glaucoma control and clearing the visual axis so the brain can develop normal vision.

1. Goniotomy: The surgeon uses a tiny blade inside the eye to open the abnormal angle tissue; works best when the cornea is clear enough to see. Goal: lower pressure early in life. AAO

2. Trabeculotomy (ab externo or microcatheter): Opens the eye’s natural drainage channel from the outside; preferred when the cornea is hazy. Goal: long-term pressure control. EyeWiki

3. Trabeculectomy (with antifibrotic) or Glaucoma Drainage Device (tube shunt): Used when angle surgery fails or glaucoma is secondary; aims for stable, safe pressure but needs close follow-up for scarring or hypotony. PMC

4. Corneal surgery to clear the visual axis (optical iridectomy, penetrating or lamellar keratoplasty): Creates a clear window for vision development when the central cornea is opaque (Peters anomaly). Graft survival and glaucoma control are the main long-term challenges. EyeWiki+1

5. Limbal stem-cell transplant procedures (CLET/SLET) for aniridia-associated keratopathy: Rebuilds the corneal surface to improve comfort and clarity when the limbus has failed. NCBI

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Prevention & protection tips

ASD itself isn’t preventable after conception, but you can reduce complications and support development.

1. Keep all pressure checks and follow-ups on schedule. AAO

2. Use drops exactly as prescribed; never stop suddenly without guidance. AAO

3. Protect eyes from trauma (sports goggles, safe play spaces). EyeWiki

4. Sun/UV protection daily, especially in aniridia. NCBI

5. Strict post-op hygiene and shield use after any surgery. EyeWiki

6. Early amblyopia therapy if recommended. EyeWiki

7. Maintain good nutrition and hydration during recovery periods. EyeWiki

8. Share a full medication/supplement list with surgeons before procedures. EyeWiki

9. Engage school supports early for reading/contrast accommodations. EyeWiki

10. Consider genetic counseling for family planning. PMC

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When to see a doctor urgently

• Eye looks bigger, cloudy, or very teary; child is extra light-sensitive or rubbing constantly (possible pressure rise). AAO

• New redness, pain, or discharge—especially after surgery or with contact lenses. EyeWiki

• Sudden change in how the child tracks faces or reaches for toys (vision drop). EyeWiki

• Any blow to the eye or head. EyeWiki

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What to eat and what to avoid

• Emphasize: Balanced diet with fruits/vegetables (leafy greens, citrus, colorful produce), whole grains, lean protein, and healthy fats (fish, olive oil). Helps general growth and healing. EyeWiki

• Hydrate well: Fluids aid recovery and comfort after surgery. EyeWiki

• If dry-eye symptoms: Include omega-3–rich foods (fatty fish, flax, walnuts); discuss supplements first with your clinician. EyeWiki

• Avoid: Megadose “eye supplements,” high-dose vitamin A without supervision, and any unregulated products claiming to “cure” ASD. These can interfere with anesthesia or medicines. EyeWiki

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Frequently asked questions

1. Is ASD a single disease? No. It’s a spectrum of developmental front-of-eye problems (e.g., Axenfeld–Rieger, Peters anomaly, aniridia). NCBI

2. Is it inherited? Often yes—classically autosomal dominant in Axenfeld–Rieger and aniridia (PAX6), but patterns vary; genetics consults help clarify your family’s risk. PMC+1

3. What is the biggest risk to vision? Childhood glaucoma and dense corneal opacity that blocks visual development. EyeWiki+1

4. Do eye drops cure ASD? No. Drops control pressure or surface inflammation; surgery often provides the long-term pressure control or a clear visual axis. PMC

5. Which glaucoma surgery is “best”? Angle surgery (goniotomy/trabeculotomy) is first-line; tubes or filtering surgery are for tougher cases—your surgeon decides based on the eye. EyeWiki+1

6. Is corneal transplant always successful in Peters anomaly? Outcomes vary; glaucoma and graft survival are major challenges over years. WebEye

7. Will my child need glasses or contacts? Often yes—irregular corneas and refractive errors are common; specialty lenses can help. EyeWiki

8. What about school? Low-vision supports and accommodations let most children participate fully. EyeWiki

9. Can sunlight make it worse? UV doesn’t cause ASD but can worsen glare; UV-blocking protection helps comfort and function. NCBI

10. Are supplements necessary? Not for ASD itself; focus on balanced diet unless your doctor recommends supplementation. EyeWiki

11. Is aniridia always part of a body-wide syndrome? Not always; some cases are isolated, others occur in WAGR syndrome—hence the importance of pediatric and genetic screening. NCBI

12. Will my other children have ASD? Depends on the gene and inheritance; genetic counseling explains personal risks. PMC

13. How often are pressure checks? Very often in infancy and after surgery; your team sets the schedule. AAO

14. Is there gene therapy for ASD now? Not yet for routine care; research is ongoing. PMC

15. What’s the long-term outlook? With early detection, modern surgery, and vision therapy, many children achieve useful vision, but lifelong care is typical. EyeWiki

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: September 19, 2025.

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