Aniridia-Absent Patella Syndrome

Aniridia-absent patella syndrome is an extremely rare, inherited condition. It links two main findings: aniridia (little or no iris in the eyes) and aplasia or hypoplasia of the patella (kneecaps missing or under-developed). It was described in a single three-generation family (a boy, his father, and his grandmother). The grandmother also had cataracts and glaucoma. There have been no new, confirmed case reports in the medical literature since 1975. The pattern of inheritance reported was autosomal dominant. Genetic Diseases Info Center+1

Aniridia–Absent Patella syndrome combines aniridia (partial or complete iris absence) with aplasia/hypoplasia of the patella (kneecap absent or very small). The original family also had cataract and glaucoma in the grandmother; no large series exist beyond that report. Management therefore follows best practices for aniridia-associated ocular disease and for congenital patellar deficiency rather than a bespoke protocol.

Aniridia 101. Congenital aniridia is a pan-ocular disorder (cornea, iris, lens, fovea, optic nerve) commonly due to PAX6 variants and can appear alone or within WAGR; complications include foveal hypoplasia, cataract, keratopathy, and glaucoma.

Patella aplasia/hypoplasia (context). Congenital absence or marked reduction of the patella leads to knee instability, extensor weakness, and recurrent dislocation in some patients. Similar patellar phenotypes occur in nail-patella syndrome (LMX1B) and small patella syndrome (TBX4), which we use as analogues for rehab and surgical strategy when patellae are absent or tiny.

Because so few patients have been documented, doctors use knowledge from related conditions to guide testing and care. Those related conditions include PAX6-related aniridia and disorders that cause patella aplasia/hypoplasia, such as nail-patella syndrome (LMX1B) and small patella syndrome (TBX4). PMC+3NCBI+3NCBI+3

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Other Names

Doctors and databases may use different names for the same syndrome. You may see:

• Aniridia and absent patella

• Aniridia with patella aplasia/hypoplasia

• Familial syndrome of aniridia and absence of the patella

• Database labels: OMIM 106220, ORPHA:1069, MONDO:0007120. NCBI+2Genetic Diseases Info Center+2

This syndrome is a genetic condition where a person is born with very little or no iris, and with kneecaps that are missing or very small. The eye problem causes light sensitivity and reduced vision. The knee problem can cause unstable knees and trouble with walking. In the only detailed family described, some members also had cataracts and glaucoma. The condition seemed to pass from parent to child in a dominant way (each child has a 50% chance if one parent is affected). Because so few cases exist, doctors check carefully for related diagnoses that can look similar, such as WAGR syndrome (a large 11p13 deletion with PAX6 involvement), nail-patella syndrome (LMX1B), and small patella syndrome (TBX4). PMC+4Genetic Diseases Info Center+4NCBI+4

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Types

There is no official, universal subtype system for this ultra-rare disorder. Clinicians often describe “types” by what they actually see in the eyes and knees, and by how it runs in the family:

1) Eye-severity type

• Complete aniridia: almost no visible iris.

• Partial aniridia: some iris tissue remains; problems like foveal hypoplasia, cataract, or glaucoma can still occur. NCBI

2) Knee-severity type

• Patella aplasia: kneecap is absent.

• Patella hypoplasia: kneecap is present but small or misshapen. Wiley Online Library

3) Sidedness type

• Bilateral: both eyes and both knees affected.

• Asymmetric: one side worse than the other. (Asymmetry is common in patellar dysplasias in general.) NCBI

4) Inheritance pattern

• Familial autosomal dominant: several affected across generations.

• Apparent de novo: a new variant in a child with unaffected parents (plausible in rare disorders). (Autosomal dominant inheritance and the original three-generation family have been reported.) Genetic Diseases Info Center

5) With or without associated eye complications

• With cataract and/or glaucoma vs without. (Both documented in sources that summarize the original report.) Genetic Diseases Info Center

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Causes

Because only one family has been well described, the exact gene for this specific syndrome is unknown. The items below explain likely or related mechanisms using what is known about aniridia and about patella aplasia/hypoplasia. Where I infer, I say so.

1. Autosomal dominant genetic change in an unknown gene that affects both eye (iris) and knee development. This matches the original family pattern. Genetic Diseases Info Center

2. De novo (new) mutation in a child, with dominant transmission to later generations. This happens in many rare genetic syndromes. (General genetic mechanism noted by GARD.) Genetic Diseases Info Center

3. PAX6 loss-of-function causing aniridia, plus a second, co-inherited change affecting kneecap development (inference based on known biology of PAX6 for eyes and known genes for patella). NCBI+2NCBI+2

4. 11p13 deletion including PAX6 (seen in WAGR) with a separate alteration influencing patella formation (inference about a contiguous-gene or multi-locus mechanism). NCBI

5. PAX6 regulatory-region defects (enhancer deletions near ELP4) causing aniridia, together with an independent patella gene variant in the same family (inference). NCBI

6. LMX1B mutation (nail-patella syndrome) explaining patella hypoplasia/aplasia in a family who also segregates a PAX6-related aniridia variant (digenic/dual-diagnosis inference; both single-gene disorders are well established). NCBI

7. TBX4 mutation (small patella syndrome / ischiocoxopodopatellar syndrome) plus a separate aniridia variant in PAX6 (dual-diagnosis inference). TBX4 is a proven cause of patella hypoplasia/aplasia. PMC

8. Chromosomal translocation that disrupts PAX6 or its control regions and also impacts a limb-development gene (inference based on mechanisms seen in aniridia and patella syndromes). NCBI+1

9. Copy-number variation (CNV) affecting limb-bud enhancers together with a PAX6 variant (inference; CNVs are recognized causes of skeletal patterning disorders). Wiley Online Library

10. Mosaicism (mutation present in some cells only) producing variable iris and patella findings in family members. Mosaicism is a known mechanism in genetic eye disorders. NCBI

11. Variable expressivity of a dominant variant, causing a range from partial to near-complete aniridia and from hypoplastic to absent patellae. (Common in PAX6-related aniridia and in patella dysplasias.) NCBI+1

12. Epigenetic silencing of PAX6 or a patella gene (inference drawn from general gene-regulation principles in congenital eye and limb anomalies). NCBI

13. Intragenic deletions/insertions in PAX6 (well documented in aniridia) plus an independent patella variant (inference). MDPI

14. Regulatory-network disturbance during early development that affects both neural ectoderm (eye) and limb patterning (inference supported by how PAX6 and limb genes direct organogenesis). NCBI+1

15. Undetected multi-gene microdeletion spanning PAX6 and a nearby or distal limb-development locus via complex rearrangement (hypothesis consistent with some contiguous-gene syndromes). NCBI

16. Parental germline mosaicism, explaining recurrences with apparently unaffected parents (general mechanism in rare dominant diseases). NCBI

17. Environmental mutagen exposure causing a de novo variant (GARD notes environmental factors can contribute to mutations in rare diseases generally). Genetic Diseases Info Center

18. Advanced paternal age effect increasing de novo mutation risk (general genetics concept; plausible but unproven here). Genetic Diseases Info Center

19. Coincidental co-occurrence of two rare conditions (true dual diagnosis) that appear as one syndrome in a family (documented in clinical genetics across many traits). NCBI+1

20. Unknown cause (most honest for this named syndrome today, since no gene has been confirmed for this exact pairing). Genetic Diseases Info Center+1

Note: Items 3–9 and 12–19 reflect informed hypotheses, not proven mechanisms for this specific, historic family. They are grounded in what we know about the eye gene PAX6 and about patella-development genes LMX1B and TBX4, which are regularly implicated in the overlapping features. NCBI+2NCBI+2

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Symptoms

1. Aniridia (absent or very small iris): makes the pupil look large and black; causes glare and light sensitivity. Genetic Diseases Info Center+1

2. Reduced vision: due to foveal hypoplasia, cataract, or other eye changes that commonly travel with aniridia. NCBI

3. Photophobia (light sensitivity): bright light causes discomfort because the iris cannot control light entry. NCBI

4. Nystagmus (shaky eyes): the brain tries to find a clearer image; this can start in infancy. NCBI

5. Cataract: the lens becomes cloudy, further reducing vision. NCBI

6. Glaucoma: pressure damage to the optic nerve may develop over time in aniridia. NCBI+1

7. Strabismus (eye misalignment): the eyes may not point in the same direction, especially when vision is poor. NCBI

8. Ptosis (droopy upper eyelid): sometimes seen with aniridia and can worsen visual field. Genetic Diseases Info Center

9. Patella aplasia (kneecap absent): knees feel unstable; kneeling is difficult; the contour above the knee may look flat. Wiley Online Library

10. Patella hypoplasia (small kneecap): kneecap tracks poorly; there is pain around the front of the knee. NCBI

11. Knee instability or recurrent giving-way: due to a missing or small patella and altered extensor mechanics. Wiley Online Library

12. Knee pain with stairs or squatting: stress on the patellofemoral joint can cause anterior knee pain. Wiley Online Library

13. Gait changes: cautious walking, reduced running or jumping confidence. Wiley Online Library

14. Hypotonia (low muscle tone): reported in summaries of the original family; may contribute to delayed motor skills. Genetic Diseases Info Center

15. Other reported findings: inguinal hernia and cryptorchidism (undescended testes) were listed in rare-disease summaries of the original report. Genetic Diseases Info Center

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Diagnostic Tests

A) Physical Examination

1. External eye exam with a bright light: the clinician looks for missing or very thin iris tissue, checks pupil reactions, and notes eyelid position. This is the first clue to aniridia. NCBI

2. Age-appropriate visual acuity testing: pictures or letter charts estimate clarity of vision. Poor acuity supports foveal or optic nerve underdevelopment common in aniridia. NCBI

3. Knee palpation for patella: the examiner feels for the kneecap edges while the knee is straight and slightly bent. Absence or a very small, high-riding patella suggests aplasia or hypoplasia. Wiley Online Library

4. Gait and posture assessment: the clinician watches walking and squatting to see instability or compensation due to patellar deficiency. Wiley Online Library

B) Manual/Bedside Functional Tests

5. Patellar mobility/apprehension maneuver: gentle side-to-side pressure on the patellar region checks for tracking and the person’s sense of instability. Limited use if the patella is absent, but helpful when hypoplastic. Wiley Online Library

6. Knee range-of-motion testing: measures bending and straightening; stiffness or loss of extension can occur when kneecaps are abnormal. Wiley Online Library

7. Manual muscle testing of quadriceps/hamstrings: weakness worsens instability and pain; strengthening often helps symptoms even in patella disorders. Wiley Online Library

8. Cover–uncover and alternate cover tests: simple bedside eye tests to detect strabismus that may accompany aniridia-related low vision. NCBI

C) Laboratory & Pathological/Genetic Tests

9. PAX6 gene testing (sequencing and deletion/duplication analysis): confirms a PAX6-related aniridia when present; helps separate this syndrome from other causes of iris hypoplasia. NCBI

10. Chromosomal microarray (CMA): looks for 11p13 deletions that include PAX6 (as in WAGR); useful when aniridia is sporadic or severe. NCBI

11. Targeted FISH or MLPA for 11p13: follows up suspicious CMA results to define the deletion more precisely. NCBI

12. LMX1B gene testing: rules in or out nail-patella syndrome, a well-known cause of absent/hypoplastic patellae with possible kidney disease. This is crucial in the differential. NCBI

13. TBX4 gene testing: rules in or out small patella syndrome (ischiocoxopodopatellar syndrome), another proven cause of patella aplasia/hypoplasia. PMC

14. Urinalysis and kidney function tests: screens for nephropathy typical of nail-patella syndrome; helps ensure the patella problem is not due to that separate disorder. NCBI

D) Electrodiagnostic Tests

15. Visual evoked potentials (VEP): measures electrical responses from the visual pathway to pattern or flash stimuli; helpful when nystagmus or young age prevents reliable vision testing. (Standards from ISCEV.) iscev.org+1

16. Full-field electroretinography (ffERG): evaluates generalized retinal function; useful to document retinal health in aniridia where macula and optic nerve may be under-developed. (ISCEV Standard.) PMC

17. Pattern ERG (pERG): focuses on macular and ganglion-cell function; complements VEP and ffERG to profile visual system integrity. (ISCEV Standards set the methods.) ISCEV

E) Imaging Tests

18. Anterior segment OCT (AS-OCT) or ultrasound biomicroscopy: shows how much iris tissue is present and the structure of the angle that drains eye fluid; supports planning for glaucoma risk. NCBI

19. Macular OCT and fundus photography: documents foveal hypoplasia or optic nerve changes that often accompany aniridia and explain reduced vision. NCBI

20. Plain X-rays of knees and pelvis (± MRI if needed): confirm patella aplasia/hypoplasia and assess hip/foot alignment issues that can coexist with small or absent patellae. Wiley Online Library

Non-pharmacological treatments (therapies & others)

Short, plain paragraphs with purpose & mechanism.

1. UV protection and glare control. Wrap-around sunglasses + hats cut photophobia and protect the limbus, reducing ocular surface stress in aniridia-associated keratopathy (AAK). Purpose: comfort, surface preservation. Mechanism: limits UV/visible light and desiccating stress that aggravate limbal stem-cell dysfunction.

2. Preservative-free lubrication routine. Scheduled PF artificial tears/gel/ointments and humidification. Purpose: reduce friction, promote epithelial integrity. Mechanism: substitutes tear film, stabilizes meniscus and reduces shear. (Lubricants are first-line in AAK care algorithms.)

3. Scleral or PROSE lenses (in specialist centers). Purpose: optical rehabilitation + continuous fluid reservoir to shield cornea. Mechanism: vaults cornea and bathes epithelium to improve vision and comfort in AAK.

4. Lid hygiene & meibomian therapy. Warm compresses and gentle massage to improve lipid layer. Purpose: stabilize tear film. Mechanism: improves meibum flow, slows evaporation.

5. Low-vision rehabilitation. Early referral for magnifiers, contrast enhancement, lighting strategies, and educational accommodations. Purpose: maximize function given foveal hypoplasia/nystagmus. Mechanism: task-specific optical aids + training.

6. Amblyopia and nystagmus strategies in children. Timely refraction, occlusion if indicated, and vision therapy to optimize neural development. Mechanism: promotes cortical visual maturation despite structural deficits.

7. Glaucoma self-care training. Teach drop instillation, punctal occlusion, and adherence; regular IOP checks. Mechanism: better delivery and decreased systemic absorption of IOP-lowering meds.

8. Knee bracing (patellar stabilizing). Lateral-buttress braces or ROM-limited braces for instability. Purpose: decrease maltracking and pain, aid healing after episodes. Mechanism: external stabilization and patellar guidance.

9. Targeted physiotherapy. Quadriceps (esp. VMO), hip abductors/external rotators, core; neuromuscular/proprioceptive training and closed-chain work. Mechanism: improves tracking and dynamic stability in patellofemoral malalignment.

10. Gait training & fall-prevention. Task-specific drills, footwear review, home hazard mitigation. Mechanism: reduces falls when active extension is weak.

11. Activity modification. Swap deep knee flexion/loaded twisting for low-impact activities (cycling, pool therapy). Mechanism: reduces patellofemoral load while maintaining conditioning.

12. Weight management. Even modest weight loss reduces knee joint load and anterior knee pain burden. Mechanism: lowers compressive forces across the patellofemoral joint.

13. Education & self-management (knee). Pain neuroscience education, pacing, home-exercise dosing. Mechanism: improves adherence and outcomes vs. passive care.

14. Protective eyewear for sport/work. Prevents trauma to already vulnerable eyes. Mechanism: barrier against impact/foreign bodies.

15. Allergen/irritant avoidance. Manage environmental triggers (wind, smoke). Mechanism: lowers evaporative stress and surface inflammation.

16. School and workplace accommodations. Seating, large-print materials, high-contrast screens, extra test time. Mechanism: functional inclusion despite reduced acuity.

17. Regular cornea clinic surveillance. Stage AAK, treat early, and time surgical steps appropriately (e.g., LSCT before keratoplasty). Mechanism: proactive staging improves graft/ocular outcomes.

18. Smoking avoidance/cessation. Mixed literature on glaucoma incidence, but smoking adversely affects ocular surface and systemic health; cessation is prudent. Mechanism: reduces oxidative and inflammatory load.

19. Bone/joint health habits. Adequate calcium/vitamin D intake and resistance exercise support musculoskeletal function in the setting of patellar deficiency. Mechanism: strengthens bone and periarticular muscle.

20. Genetic counseling. Discuss inheritance patterns of aniridia (often PAX6 AD) and patellar syndromes (e.g., TBX4/LMX1B in analogues) to inform family planning and surveillance for associated conditions. Mechanism: risk communication & tailored screening.

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Drug treatments

Because there are no trials in this exact dyad, choices are extrapolated from best evidence in aniridia, AAK, and patellar-related pain/instability. Doses are typical adult ranges—always individualize and monitor.

1. PF artificial tears/gel/ointment (topical). Class: lubricants. Dose/time: tears qid–q2h PRN; gel/ointment HS. Purpose: protect epithelium, reduce symptoms. Mechanism: tear replacement; lowers shear. Side effects: blur with ointments.

2. Topical cyclosporine A 0.05–0.1%. Class: calcineurin inhibitor. Dose: bid (onset weeks). Purpose: chronic ocular surface inflammation in AAK/dry eye. Mechanism: T-cell modulation, ↑goblet cell density. Side effects: burning/irritation.

3. Lifitegrast 5%. Class: LFA-1 antagonist. Dose: bid. Purpose: dry-eye inflammation when cyclosporine inadequate/intolerant. Mechanism: blocks LFA-1/ICAM-1 binding to reduce T-cell–mediated inflammation. Side effects: dysgeusia, irritation.

4. Autologous serum eye drops (20–100%). Class: biologic tear substitute. Dose: qid–q2h courses. Purpose: persistent epithelial defects/severe DED in AAK. Mechanism: growth factors (EGF, NGF) and vitamins mimic tears. Side effects: prep logistics, contamination risk; overall good safety in RCTs/meta-analyses.

5. Platelet-rich plasma eye drops. Class: blood-derived biologic. Dose: qid–q2h. Purpose: severe DED/epithelial defects refractory to standard care. Mechanism: concentrated growth factors promoting healing. Side effects: similar to serum; emerging but growing evidence.

6. Cenegermin (Oxervate) 0.002% q6/day x 8 weeks. Class: recombinant human NGF. Purpose: coexisting neurotrophic keratitis (may occur in advanced AAK). Mechanism: restores corneal innervation/epithelial healing. Side effects: eye pain, inflammation. FDA-approved.

7. Topical antibiotics (e.g., moxifloxacin) during epithelial compromise. Class: fluoroquinolone (topical). Dose: qid–qid+ for short courses. Purpose: prevent/treat infectious keratitis. Mechanism: broad-spectrum antimicrobial. Side effects: rare allergy/toxicity.

8. Short courses of topical corticosteroid (e.g., loteprednol). Class: steroid. Dose: qid then taper. Purpose: acute surface/mild intraocular inflammation. Mechanism: suppresses cytokine cascades. Side effects: IOP rise, cataract with prolonged use—monitor.

9. Hypertonic saline 5% (if epithelial edema). Class: osmotic agent. Dose: qid + ointment HS. Purpose/mechanism: draws fluid from epithelium to reduce microcystic edema and blur. Side effects: stinging.

10. IOP-lowering: prostaglandin analogs (latanoprost/bimatoprost). Class: PG analog. Dose: qHS. Purpose: aniridic glaucoma control. Mechanism: ↑uveoscleral outflow. Side effects: hyperemia, lash/iris color change; good systemic safety profile vs β-blockers in pediatrics.

11. β-blockers (timolol) when appropriate. Dose: qd–bid. Mechanism: ↓aqueous production. Side effects: bradycardia/bronchospasm—caution in children/asthma; consider punctal occlusion.

12. α2-agonists (brimonidine). Dose: bid–tid. Mechanism: ↓aqueous production/↑uveoscleral outflow; possible neuroprotection. Side effects: fatigue, allergic conjunctivitis.

13. Topical carbonic anhydrase inhibitors (dorzolamide/brinzolamide). Dose: bid–tid. Mechanism: ↓aqueous; add-on to PGs. Side effects: bitter taste, irritation.

14. Oral acetazolamide (short courses). Dose: 250–500 mg bid–qid (renal/lyte caution). Purpose: bridge to surgery or acute IOP spikes. Side effects: paresthesia, acidosis, stones.

15. Fixed combinations (e.g., latanoprost/timolol). Purpose: simplify regimen and improve IOP reduction vs monotherapy. Side effects: as components.

16. Analgesic ladder for knee pain (acetaminophen first; NSAIDs short-term). Mechanism: central COX inhibition (APAP) / COX inhibition (NSAIDs). Side effects: GI/renal/CV risk with NSAIDs—short courses only.

17. Topical NSAIDs (diclofenac gel) for anterior knee pain flares. Mechanism: local COX inhibition with lower systemic exposure. Side effects: local irritation.

18. Intra-articular hyaluronic acid (selected cases). Purpose: symptomatic relief in maltracking OA phenotypes. Mechanism: visco-supplementation. Side effects: flare; evidence variable—use cautiously.

19. Short course muscle relaxant at night (selected adults) for spasm. Mechanism: reduces sleep-limiting spasm to aid rehab adherence; use sparingly. Side effects: sedation.

20. Vitamin D repletion if deficient (supports bone/muscle function). Dose: per ODS/Endocrine guidance. Note: mixed knee pain data; treat deficiency for systemic health.

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Dietary molecular supplements

(No supplement treats the syndrome itself; use to support ocular surface or musculoskeletal health. Always check interactions.)

1. Omega-3 fatty acids (EPA/DHA). Function: anti-inflammatory milieu for ocular surface. Mechanism: eicosanoid shift. Evidence: mixed—large NEJM DREAM trial found no benefit vs placebo for DED symptoms; use shared decision-making.

2. Vitamin D (if low). Function: bone/muscle support for knee stability work. Mechanism: calcium homeostasis, muscle function. Evidence: treat deficiency per NIH ODS; knee pain/OA outcomes mixed.

3. Calcium (diet first, supplement only to meet RDA). Function: skeletal support. Mechanism: mineralization. Evidence: ODS/NOF targets; avoid exceeding upper limits.

4. Lutein/zeaxanthin (diet emphasized). Function: macular pigment support, glare sensitivity. Mechanism: antioxidant/blue-light filtering. Evidence: growing but disease-specific benefit varies; strongest in AMD, still reasonable for ocular health.

5. Vitamin A (avoid excess). Function: epithelial health. Mechanism: supports mucin/epithelium. Evidence: deficiency harms surface; replete if low—avoid toxicity.

6. Oral antioxidants (mixed formulations). Function: reduce oxidative stress burden. Mechanism: scavenging ROS. Evidence: variable across eye conditions; benefit clearer in AMD subtypes than aniridia.

7. Zinc (dietary). Function: cofactor in epithelial repair. Evidence: ensure adequacy; neutral if already replete.

8. Hydration/electrolyte balance. Function: supports tear production and exercise tolerance. Mechanism: systemic hydration. Evidence: standard dry-eye and rehab advice.

9. Protein sufficiency. Function: muscle repair to aid knee rehab. Mechanism: supports hypertrophy/strength gains. Evidence: musculoskeletal guidelines support adequate protein for rehab.

10. Mediterranean-pattern diet. Function: systemic anti-inflammatory pattern supportive of ocular health. Mechanism: polyphenols/omega-3/low refined carbs. Evidence: associated with better eye health outcomes.

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Immunity-booster / regenerative / stem-cell–oriented drug

(Used for ocular-surface regeneration when indicated; these are real, regulated options—not folk remedies.)

1. Cenegermin (Oxervate). Recombinant human NGF for neurotrophic keratitis—can coexist with advanced AAK—improves innervation and epithelial healing (8-week course).

2. Autologous serum eye drops. Deliver EGF, vitamin A, and trophic factors that aid epithelial regeneration; RCTs and meta-analyses support use in severe DED/defects.

3. Platelet-rich plasma (PRP) eye drops. Higher growth-factor payload than serum in some assays; emerging RCTs suggest benefit in severe DED.

4. Topical cyclosporine A (immunomodulator) to normalize surface immunity and goblet cell density over time in chronic inflammatory DED/AAK.

5. Topical lifitegrast to reduce T-cell–mediated adhesion signalling on the ocular surface (alternative to or with CsA).

6. (Perioperative) anti-VEGF in selected corneal neovascularization scenarios around grafting to improve clarity and reduce rejection risk (specialist use).

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Surgeries

1. CustomFlex® Artificial Iris implantation. For glare/photophobia/cosmesis in full or partial aniridia; FDA-approved since May 30, 2018 (children & adults). Why: restores iris diaphragm and quality of life.

2. Limbal stem-cell transplantation (LSCT/KLAL/SLET variants). Why: corrects limbal stem-cell deficiency driving AAK; typically done before corneal grafting to improve success.

3. Keratoplasty or Boston KPro in advanced AAK (after LSCT). Why: restore clarity when scarring/vascularization is extensive.

4. Glaucoma procedures (trabeculotomy/trabeculectomy/tube shunt). Why: control IOP when medications fail; drainage devices show useful success in aniridic glaucoma.

5. Patellar realignment/reconstruction (MPFL reconstruction, tibial tubercle procedures; modified Galeazzi in PTLAH). Why: correct maltracking/restore active extension in severe instability due to tiny/absent patellae.

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Preventions

1. Eye protection (sport/work).

2. UV/blue-light control daily.

3. Early, regular glaucoma surveillance (lifelong).

4. Treat dry-eye/AAK early to avoid ulcers.

5. Knee-safe training (avoid deep loaded flexion/twisting).

6. Bracing during high-risk activities.

7. Maintain healthy weight.

8. Adequate calcium/vitamin D from diet ± supplements if low.

9. Smoking cessation.

10. Genetic counseling for family planning.

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When to see a doctor

Urgent—same day: sudden pain/redness/photophobia, vision drop, corneal abrasion/ulcer signs, IOP-related headache with halos, acute patellar dislocation or inability to extend knee.
Soon (days–weeks): worsening dryness/foreign-body sensation despite drops, increasing glare, more frequent knee giving-way episodes, or brace no longer helps.
Routine: 3–12-month eye checks (sooner if glaucoma/AAK), and periodic ortho/physio reviews to update your knee program.

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What to eat & what to avoid

1. Emphasize a Mediterranean-pattern diet (vegetables/fruit/legumes/whole grains/fish/olive oil).

2. Get omega-3s from fish (supplement only after discussing mixed evidence for DED).

3. Ensure vitamin D (food/sun/supplement if low per ODS targets).

4. Meet calcium needs mostly from food; supplement only to fill gaps.

5. Prioritize lean protein to support rehab.

6. Hydrate well; limit dehydrating alcohol.

7. Avoid smoking; it harms ocular surface and overall outcomes.

8. Limit ultra-processed foods and added sugars (pro-inflammatory).

9. Use iodized salt judiciously; manage hypertension risks that can affect eye health broadly.

10. Keep caffeine moderate if it worsens dryness or sleep (indirectly affecting rehab/tear homeostasis).

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FAQs

1. Is this a recognized syndrome? Yes—but based on a single kindred (3 people) reported historically; no new series since 1975. Expect care to mirror aniridia and patellar-deficiency best practice.

2. Is it inherited? Aniridia is often autosomal dominant (PAX6). Patellar aplasia/hypoplasia can be part of different AD conditions (e.g., TBX4/LMX1B) but the exact dyad has no single proven gene.

3. Can the missing iris be “fixed”? A CustomFlex Artificial Iris can restore iris function/appearance in appropriate eyes.

4. What about the cornea getting cloudy over time? That’s AAK from limbal stem-cell failure; staged care includes lubrication, biologic tears, LSCT, then keratoplasty/KPro when indicated.

5. Will I get glaucoma? Risk is high in aniridia; many need lifelong IOP-lowering drops and sometimes surgery.

6. Are glaucoma drops safe in children? PG analogs have favorable systemic profiles; timolol can cause bradycardia/bronchospasm—use punctal occlusion and pediatric guidance.

7. Can surgery help the knee? Yes, from soft-tissue realignment to MPFL reconstruction or specialized procedures in PTLAH; reserved for significant instability.

8. Will braces and physio be enough? Many patients improve with structured rehab + bracing; surgery is for persistent/high-risk instability.

9. Are there stem-cell “drops”? No bottled stem cells; but LSCT (a surgery) and biologic eyedrops (serum/PRP) provide trophic factors that support healing.

10. Do omega-3 supplements help dry eye? Evidence is mixed; the large NEJM DREAM trial showed no symptom benefit over placebo—food sources are a safe default.

11. Can diet fix my knee? Diet can’t replace alignment/strength work, but adequate protein, calcium, and vitamin D supports rehab and bone health.

12. How often should I be seen? At least annual comprehensive eye care (more often with AAK/glaucoma) and periodic ortho/physio reviews tailored to symptoms.

13. Are cosmetic colored contacts enough for aniridia? They can reduce glare but won’t replace the iris fully; scleral lenses or artificial iris provide more functional benefit when appropriate.

14. Is PRP better than serum drops? Both help severe DED; head-to-head trials show similar outcomes with some differences in parameters—choice depends on availability and tolerance.

15. What’s the long-term outlook? Vision depends on foveal hypoplasia, AAK control, and glaucoma; mobility depends on knee stability and rehab. With coordinated care, many daily activities are possible.

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 17, 2025.

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