Anterior Segment Dysgenesis (ASD) Types 3

Anterior Segment Dysgenesis (ASD) is a group of birth-time eye conditions where the front parts of the eye (the clear window called the cornea, the colored ring called the iris, and the angle that drains eye fluid) do not form normally during early pregnancy. Most problems come from changes in genes that guide early eye building, especially genes that control the movement and work of neural crest cells (cells that help build the cornea and drainage tissues). When these parts do not form well, children can have blurry vision from corneal clouding, light sensitivity, lazy eye (amblyopia), and high eye pressure (glaucoma), which can harm the optic nerve if not treated. ASD is a spectrum: some children have only mild angle or iris changes; others have severe corneal opacity and need surgery. Taylor & Francis Online+1

Anterior segment dysgenesis is an umbrella term for birth-time (congenital) problems in the front part of the eye—the cornea, iris, drainage angle, and nearby tissues—that did not form normally in the womb. These changes can blur the cornea, change the pupil, and disturb the drainage angle that controls eye pressure; as a result, some people develop childhood glaucoma and vision loss if not recognized and treated early. PMC+1

Other names

Doctors may use overlapping labels such as anterior segment dysgeneses, Axenfeld–Rieger spectrum, Peters anomaly, and PAX6-related aniridia. These are all part of the same family of developmental conditions affecting the eye’s front structures. PMC+1

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Types

1) Axenfeld–Rieger spectrum (ARS)

This spectrum includes Axenfeld anomaly, Rieger anomaly, and Rieger syndrome. Typical signs are a sharp, white line at the cornea-iris junction (posterior embryotoxon), fine “strands” of tissue stretching from the iris to this line, and unusual iris features (off-center pupils or holes). Because the drainage angle can be malformed, glaucoma can occur in childhood or later. Many cases are due to changes (variants) in FOXC1 or PITX2 genes, and some families also have body-wide features (dental, facial, or umbilical differences). Frontiers+3PMC+3PubMed+3

2) Peters anomaly (with or without Peters Plus)

Here the central cornea is not fully developed. A baby may have a white or gray spot in the center of the cornea, sometimes stuck to the iris or the lens. Vision can be reduced from birth. Some children also have body-wide differences (Peters Plus syndrome, most often from B3GLCT variants). Many other genes can be involved (e.g., CYP1B1, FOXC1, FOXE3, PAX6, PITX2, PITX3). NCBI+2PMC+2

3) Aniridia (usually PAX6-related)

Aniridia means the iris is partly or almost completely absent. Babies often have light sensitivity, reduced vision, and later can develop corneal surface problems, cataract, glaucoma, and foveal underdevelopment. Many cases arise from variants in PAX6. Some children have a syndrome called WAGR (Wilms tumor-Aniridia-Genital anomalies-Range of developmental differences), so kidney tumor screening may be recommended. NCBI+2NCBI+2

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Types

• Type 1: Axenfeld–Rieger spectrum — angle and iris attachment problems, mis-shaped pupils, risk of glaucoma. PMC

• Type 2: Peters anomaly — central corneal opacity with iris/lens sticking, variable vision, sometimes part of Peters Plus. NCBI+1

• Type 3: Aniridia (PAX6-related) — partial/near-total iris absence, light sensitivity, later surface disease, cataract, glaucoma, plus WAGR risk in some. NCBI+1

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Causes and risk factors

1. Gene variants in FOXC1 – disrupts signals guiding angle/iris formation; common in Axenfeld–Rieger. PMC+1

2. Gene variants in PITX2 – another major driver of Axenfeld–Rieger with dental/umbilical features in some families. PMC

3. Gene variants in PAX6 – master eye-development gene; classic for aniridia and sometimes Peters anomaly. NCBI+2ScienceDirect+2

4. B3GLCT variants – cause Peters Plus (eye plus systemic differences). NCBI

5. CYP1B1 variants – reported in Peters anomaly and can overlap with primary congenital glaucoma biology. PMC+1

6. FOXE3 variants – lens and corneal development gene linked to Peters anomaly. PMC

7. PITX3 variants – lens development gene; reported in Peters anomaly. NCBI

8. COL4A1/COL4A2 variants – basement membrane collagen genes; can present with corneal/angle anomalies. PMC

9. PXDN variants – peroxidase gene involved in corneal matrix; implicated in ASD patterns. MDPI

10. NDP, SLC4A11, HCCS – less common, reported in selected Peters anomaly cohorts. NCBI

11. Chromosomal changes at 13q14 or 16q24 – loci linked to ARS in some families. Frontiers

12. Sporadic (new) gene changes – many children have no family history; a new mutation can be the cause. BMJ Global Health

13. Syndromic associations (e.g., WAGR with aniridia) – eye findings plus body-wide features from shared genetic causes. NCBI

14. Developmental signaling pathway disruptions – broad category summarized across ASD reviews. PMC

15. Intrauterine exposures (rare/less clearly proven) – certain teratogens are suspected but evidence is limited; genetics dominates. PMC

16. Reduced gene dosage (haploinsufficiency) – especially for PAX6; one working copy may be insufficient for normal eye formation. ScienceDirect

17. Copy-number variants (deletions/duplications) – larger genomic changes can underlie ASD when they remove/add key genes. Wiley Online Library

18. Epigenetic/Regulatory region changes – non-coding control changes can mis-time eye-development genes (emerging evidence). BMJ Global Health

19. Family history with autosomal dominant inheritance – especially in ARS and aniridia. PMC+1

20. Unknown/undetected cause – even with modern testing, some children have no identified mutation, especially in Peters anomaly. Gene Vision

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Common symptoms

1. Cloudy or white central cornea at birth (more typical of Peters anomaly) causing blurred images. NCBI

2. Light sensitivity (photophobia)—common in aniridia because the iris cannot control incoming light well. NCBI

3. Decreased vision from corneal opacity, abnormal foveal development, or high pressure damage. NCBI+1

4. Wandering or shaky eyes (nystagmus) from poor image quality during infancy. NCBI

5. Off-center or keyhole-shaped pupil (corectopia) in Axenfeld–Rieger spectrum. PMC

6. Eye redness, pain, tearing when pressure rises or the surface becomes inflamed. PMC

7. Headaches or halos related to elevated eye pressure (childhood glaucoma). PMC

8. Squint/strabismus due to unequal image quality between eyes. NCBI

9. Lazy eye (amblyopia) if one eye sees markedly worse in early years. PMC

10. Small cornea or small eye features (microcornea/anterior microphthalmos) in some ASD patterns. PMC

11. Dryness/irritation with recurrent erosions (especially aniridia-related keratopathy). ScienceDirect

12. Glare and poor night vision from irregular pupils/cornea. NCBI

13. Cataract in childhood or teens (seen across ASD, notably aniridia). NCBI

14. Reduced contrast and detail from corneal scarring or foveal hypoplasia. NCBI

15. Systemic signs in some subtypes (e.g., dental/umbilical in ARS; WAGR features in aniridia; short stature/clefting in Peters Plus). PMC+2NCBI+2

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Diagnostic tests

A) Physical examination (at the slit lamp and bedside)

1. General pediatric and syndromic exam – checks growth, facial/dental/umbilical findings (ARS), or features of Peters Plus/WAGR to guide targeted genetics. PMC+2NCBI+2

2. External eye inspection – looks for light sensitivity, nystagmus, odd pupil shape, corneal clouding. PMC

3. Torchlight and red reflex test in infants – a dim/white reflex can suggest central corneal opacity or cataract needing urgent referral. PMC

4. Intraocular pressure (IOP) screening and palpation in very young infants – a rough check when instruments are not possible; abnormal firmness prompts formal tonometry. PMC

5. Family member examination – subtle signs in parents can reveal inherited patterns and direct genetic testing. PMC

B) Manual/clinic-based ophthalmic tests

6. Slit-lamp biomicroscopy – a microscope exam to map corneal opacity, posterior embryotoxon, iris strands, and surface health. PMC

7. Gonioscopy (angle exam) – the gold standard to see the drainage angle, iris processes, and adhesions; essential for glaucoma risk. Lippincott Journals

8. Applanation tonometry (e.g., Goldmann, handheld) – measures IOP accurately; repeated over time to catch childhood glaucoma early. Lippincott Journals

9. Corneal pachymetry – measures corneal thickness; helps interpret IOP and guides surgery in scarred/opaque corneas. PMC

10. Refraction and visual acuity testing – tracks amblyopia risk and need for glasses or low-vision aids. NCBI

C) Laboratory & pathological tests

11. Targeted genetic testing (single-gene or small panel) – e.g., PAX6 for aniridia; FOXC1/PITX2 for ARS; confirms diagnosis and informs family counseling. NCBI+1

12. Comprehensive ASD gene panels or exome sequencing – useful when the first tests are negative (captures B3GLCT, CYP1B1, FOXE3, PITX3, COL4A1/2, etc.). PMC+1

13. Copy-number analysis (microarray/MLPA) – detects deletions/duplications at 11p13 (WAGR/PAX6) or other loci. NCBI

14. Pathology of excised corneal tissue (if surgery is done) – shows absent/abnormal posterior cornea layers in Peters anomaly. NCBI

15. Associated systemic labs (selected cases) – guided by syndrome (e.g., renal ultrasound monitoring in WAGR, coordinated with pediatrics). NCBI

D) Electrodiagnostic tests (eye–brain function)

16. Visual evoked potentials (VEP) – checks how well signals travel from eye to the visual cortex when the cornea/retina are not clear; helps estimate visual potential in infants. NCBI

17. Full-field electroretinogram (ERG) – measures retina function; distinguishes poor vision from retinal versus media/optic causes in complex ASD. NCBI

E) Imaging tests (structure and angle detail)

18. Anterior segment OCT (AS-OCT) – high-resolution cross-sections of cornea/angle; fast and non-contact, but can miss details when the cornea is very cloudy. ScienceDirect

19. Ultrasound biomicroscopy (UBM) – ultrasound that “sees through” cloudy corneas to show the angle, iris strands, and adhesions; particularly powerful in congenital glaucoma and ASD. PMC+1

20. Corneal topography/tomography and specular microscopy – map corneal shape/thickness and endothelial cell health to plan care and surgery over time. PMC

Non-pharmacological treatments (therapies & other supports)

Note: these are supportive/rehabilitative to protect vision, treat amblyopia, and reduce surface or pressure-related stress. Exact plans differ by child and by ASD subtype.

1. Frequent pediatric eye monitoring (pressure, cornea clarity, refraction, amblyopia checks). Early detection of glaucoma or amblyopia prevents permanent vision loss. AAO

2. Amblyopia therapy (patching or atropine penalization of the better eye as age-appropriate) to strengthen the weaker eye when corneal opacity, anisometropia, or foveal hypoplasia reduce input. AAO

3. Optimal refractive correction (glasses/contact lenses, including high-oxygen scleral lenses for irregular corneas) to maximize retinal image quality and reduce amblyopia risk. WebEye

4. Photophobia control (tinted/photochromic lenses, hats, visors) to improve comfort in aniridia and after corneal surgery. NCBI

5. Intensive ocular surface lubrication (non-preserved tears, ointments) to stabilize the tear film in aniridia-related keratopathy or after corneal surgery. AAO

6. Eyelid hygiene and environmental modification (humidifiers, blink breaks) to protect a fragile corneal surface. AAO

7. Protective eyewear (impact-resistant) for children with poor corneal integrity or post-operative eyes. AAO

8. Low-vision rehabilitation (magnifiers, high-contrast materials, school accommodations, assistive tech) to improve function in children with foveal hypoplasia or corneal scarring. NCBI

9. Vision therapy & orientation-mobility training when central vision or field is limited; helpful for school readiness and safety. AAO

10. Amblyopia-friendly classroom supports (front seating, enlarged print, contrast tools, extra time) to reduce learning barriers. NCBI

11. UV protection (broad-brim hat, UV-blocking glasses) to reduce surface stress/photophobia. AAO

12. Nystagmus strategies (head-posture awareness, larger text, steady viewing tasks) in aniridia with foveal hypoplasia. AAO

13. Occlusive contact lenses or painted iris lenses for severe glare or cosmetic concerns in aniridia (specialist fitting). AAO

14. Genetic counseling for families (inheritance, testing for PITX2/FOXC1/PAX6, and WAGR screening when indicated). Frontiers+1

15. Renal (kidney) tumor surveillance in children with aniridia at risk for WAGR (ultrasound schedule per genetics/oncology guidance). NCBI

16. Developmental support & early intervention services when vision limits motor/language milestones. AAO

17. Nutritional counseling for ocular surface (hydration; balanced diet) as general support—no diet cures ASD, but good systemic health helps healing after surgeries. AAO

18. Infection avoidance education (hand hygiene; avoiding eye rubbing) to protect grafts/compromised corneas. NCBI

19. Post-operative shield use & activity limits after pediatric glaucoma or corneal surgery to prevent trauma. Frontiers

20. Family training on glaucoma signs (eye rubbing, tearing, enlarged cornea, light sensitivity), medicine instillation, and appointment adherence. PMC

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Drug treatments

Important: Drug choice and dose in infants/children are specialist decisions. Some medicines are contraindicated in infants. The goal is to control intraocular pressure (IOP), protect the cornea, and quiet inflammation or infection around surgeries. First-line for aniridia- or ARS-related glaucoma is usually topical therapy; many children eventually need surgery. NCBI+1

1. Timolol (β-blocker; 0.25–0.5% 1 drop once–twice daily): lowers IOP by reducing aqueous production. Use cautiously in infants/asthma/cardiac disease (risk: bradycardia, bronchospasm). Often first-line in pediatric glaucoma. PMC

2. Betaxolol (β1-selective): similar to timolol but a bit gentler on lungs; still monitor for systemic effects. Purpose: IOP lowering pre- or post-surgery. PMC

3. Dorzolamide (topical carbonic anhydrase inhibitor, CAI): reduces aqueous production; 1 drop 2–3×/day. Side effects: stinging, rare corneal edema. Useful adjunct to β-blockers. PMC

4. Brinzolamide (topical CAI): similar to dorzolamide; often better tolerated (blur/comfort trade-off). Purpose: combination therapy. PMC

5. Acetazolamide (oral CAI; short-term bridge): fast IOP drop pre-op or while arranging surgery. Watch for metabolic acidosis, paresthesias, GI upset; dose per weight. PMC

6. Latanoprost (prostaglandin analog): increases uveoscleral outflow; once nightly. Variable effectiveness in very young children; side effects: redness, lash growth. PMC

7. Travoprost / Bimatoprost (prostaglandin analogs): alternatives when latanoprost insufficient. Similar cautions. PMC

8. Brimonidine (α2-agonist): reduces aqueous production and increases uveoscleral outflow. Contraindicated in infants and very young children (CNS depression, apnea). Use only in older children per specialist. PMC

9. Pilocarpine (miotic): rarely used in pediatric ASD; can worsen inflammation, risk of retinal detachment in some settings—generally not first-line today. Frontiers

10. Netarsudil (ROCK inhibitor): increases trabecular outflow; pediatric data emerging; may cause conjunctival redness/cornea verticillata. Specialist use. Frontiers

11. Combination drops (e.g., dorzolamide-timolol): improve adherence by reducing bottle burden; dosing per product. PMC

12. Topical steroids (e.g., prednisolone acetate) around surgeries or for surface inflammation in aniridia keratopathy flares; taper to avoid steroid-induced IOP rise. AAO

13. Topical antibiotics (short courses) post-op or for epithelial defects to prevent infection (per surgeon protocol). NCBI

14. Hypertonic saline 5% (drops/ointment): reduces corneal edema to improve clarity and comfort in postoperative or endothelial stress states. AAO

15. Lubricant gels/ointment (night use): supports healing on fragile surfaces (aniridia-related keratopathy). AAO

16. Cycloplegics (e.g., atropine 0.5–1% short course): rest the iris/ciliary body in inflammation, reduce pain from synechiae; pediatric dosing carefully supervised. AAO

17. Antihistamine/mast-cell stabilizer drops: for allergic surface disease that worsens rubbing and epithelial defects. AAO

18. Topical vitamin A ointment (epithelial support) as adjunct on compromised surfaces (specialist guided). AAO

19. IOP-safe post-op regimens (steroid + antibiotic with close pressure checks) tailored by the surgeon to balance inflammation and glaucoma risk. Frontiers

20. Systemic analgesia/antipyretics (procedure comfort; not disease-modifying) with pediatric dosing safety. Frontiers

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Dietary molecular supplements

No supplement treats ASD itself. A few nutrients may support ocular surface health or general vision comfort; discuss with your clinician to avoid interactions.

1. Omega-3 fatty acids (ALA/EPA/DHA): may help tear film quality and surface comfort in dry-eye-like symptoms; mixed evidence. Typical: fish oil per label; stop before surgery if advised. AAO

2. Lutein + zeaxanthin: macular carotenoids that support retinal antioxidant capacity; safe as part of diet; not ASD-specific. AAO

3. Vitamin A (dietary levels): essential for ocular surface epithelium; avoid high-dose supplements without supervision. AAO

4. Vitamin D (repletion when low): general immune/epithelial support; not ASD-specific. AAO

5. Vitamin C: collagen support and antioxidant; routine dietary intake preferred. AAO

6. Balanced electrolytes/hydration: supports tear film stability; simple but helpful. AAO

7. Zinc (dietary): co-factor for ocular enzymes; avoid high doses. AAO

8. Flaxseed oil (plant omega-3): alternative for some families; GI side-effects possible. AAO

9. Probiotics: gut-eye links are investigational; no ASD-specific proof—use only for general GI reasons. AAO

10. Multivitamin at RDA doses when diet is limited; avoid megadoses. AAO

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Immunity-booster / regenerative / stem-cell drugs

There are no approved “immunity-booster drugs” that cure ASD. Regenerative approaches are mainly cell- or surgery-based, not pills. Here are realistic, clinician-led options:

1. Limbal stem cell transplantation (autologous/allogeneic): replaces damaged corneal surface cells in severe aniridia keratopathy; needs life-long care and anti-rejection when allogeneic. AAO

2. Cultivated oral mucosal epithelial transplantation (COMET): uses patient’s oral cells to resurface cornea when limbal cells are absent. Investigational/specialized centers. AAO

3. Amniotic membrane grafting: biologic scaffold to help healing on the ocular surface in persistent defects. AAO

4. Autologous serum tears: growth-factor-rich lubricant for severe surface disease; prepared under protocol. AAO

5. Recombinant growth-factor therapies (selected cases, off-label): used in certain neurotrophic/epithelial problems; ASD-specific evidence limited. AAO

6. Keratoprosthesis (Boston K-Pro): artificial cornea for end-stage surface failure after multiple grafts—device, not a drug, but part of the regenerative toolbox. AAO

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Surgeries

1. Goniotomy (cutting open the blocked internal drainage tissue under a gonio view). Why: first-line in many infants/young children with developmental angle issues to lower IOP and protect the optic nerve. Frontiers

2. Trabeculotomy (externally opening Schlemm’s canal/trabecular meshwork). Why: alternative/partner to goniotomy; useful when the cornea is too cloudy for a good view. Frontiers

3. Trabeculectomy (with mitomycin C). Why: used in older children when angle surgeries fail; creates a new fluid outflow path, but needs careful long-term infection monitoring. Frontiers

4. Glaucoma drainage device (tube shunt). Why: for tough, repeat-surgery cases to reliably lower pressure when other methods fail. Frontiers

5. Penetrating keratoplasty (full-thickness corneal transplant) for Peters anomaly (and, rarely, advanced aniridia keratopathy). Why: to clear the visual axis in dense central opacity; however, graft survival is modest and many children still need glaucoma surgeries later. NCBI+2PubMed+2

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Preventions

1. Genetic counseling for families with ARS/aniridia to understand inheritance and reproductive options. Frontiers

2. Early newborn/infant eye screening in at-risk families for fast amblyopia and glaucoma prevention. AAO

3. Regular IOP checks through childhood in ARS/aniridia—even when “everything looks fine.” AAO

4. WAGR surveillance in aniridia (kidney ultrasound schedule per genetics). NCBI

5. Strict post-op protection (shields, avoid rubbing/trauma) to protect grafts and tubes. Frontiers

6. Avoid contact lens overwear; use high-oxygen lenses and hygiene. WebEye

7. Treat allergic eye disease early to cut rubbing and surface breakdown. AAO

8. Sun/UV protection to reduce surface stress in aniridia. AAO

9. Adherence education for drop use and visits (family training). PMC

10. Healthy general pediatric care (nutrition, sleep, vaccines) to support surgical healing; while not ASD-specific, good health aids recovery. AAO

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When to see a doctor (now vs routine)

• Urgent/now: eye pain, redness plus light sensitivity, sudden tearing/enlarging cornea in a baby, sudden drop in vision, new clouding of a graft, fever with eye discharge after surgery. These can mean high pressure, infection, or graft failure and need urgent care. NCBI

• Soon (days): increased photophobia, more nystagmus, poor tolerance of lights, new headaches in a child with known glaucoma, or trouble using drops—these can signal rising pressure or surface breakdown. AAO

• Routine: scheduled IOP checks, refraction/amblyopia follow-ups, genetics and kidney screening if aniridia/WAGR risk. NCBI

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What to eat & what to avoid

• Eat: balanced diet with fruits/vegetables (greens for natural lutein/zeaxanthin), lean proteins, whole grains, and regular hydration—this supports healing and tear film stability, especially after surgeries or with chronic surface disease. AAO

• Avoid/limit: smoking exposure (worsens surface), highly dehydrating routines (poor fluid intake), and self-starting herbal or high-dose vitamin pills without the eye team (possible bleeding risks around surgery or interactions). No diet cures ASD, and mega-dosing vitamins can be harmful. AAO

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FAQs

1. Is ASD one disease? No. It’s a group of front-of-eye development problems with shared roots but many looks and severities. ScienceDirect

2. What genes are most common? PITX2 and FOXC1 (ARS) and PAX6 (aniridia). Others/loci exist. Frontiers

3. Does every child get glaucoma? No, but risk is high—hence lifelong pressure checks. AAO

4. Can glasses fix it? Glasses correct focus and help amblyopia therapy but do not fix malformed tissues. AAO

5. Is surgery always needed? Not always. Some children do well with monitoring and medicines; others need angle surgery or corneal grafts. Frontiers

6. Do corneal grafts work in Peters anomaly? They can help but have modest survival and often many surgeries are needed. PubMed+1

7. Will my child outgrow aniridia? No; it’s lifelong. Needs staged care for surface, cataract, and glaucoma risks. NCBI

8. Is there a cure pill? No. Treatments reduce pressure, clear the visual axis, and protect the surface; gene/cell therapies are being studied. PubMed

9. Are prostaglandin drops safe for kids? They’re used but work variably in very young children; specialists monitor closely. PMC

10. Is brimonidine safe in infants? No—can cause dangerous sleepiness/apnea. Avoid in infants. PMC

11. Does diet fix ASD? No. Diet supports healing and comfort; it does not correct development errors. AAO

12. Should we get genetic testing? Often yes; it guides prognosis (e.g., WAGR risk) and family planning. NCBI+1

13. Will school be affected? Many children need accommodations; low-vision services help a lot. NCBI

14. How common is success with glaucoma surgery? Angle surgeries are first-line; success varies with age/severity; tubes/trabs used when needed. Frontiers

15. What’s the long-term outlook? Variable—depends on subtype, glaucoma control, graft survival, and amblyopia therapy. Close, team-based care matters most. PubMed+1

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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