Syndromes
50 syndromes with free finder access. 11 full cards are open to everyone; 39 more unlock with Complete.
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Syndrome Checker
Select symptoms → get matching syndromes ranked by probability
Neuro-Ophthalmology
Giant Cell Arteritis
Free CardHigh YieldArteritic anterior ischaemic optic neuropathy (A-AION) — sudden, severe vision loss · Jaw claudication · Scalp tenderness (temporal artery region)
Horner Syndrome
Free CardHigh YieldMiosis (pupil constriction) · Ptosis (partial, 1-2mm) · Anhidrosis (ipsilateral facial)
Kearns-Sayre Syndrome
Early accessHigh YieldProgressive external ophthalmoplegia (PEO) with ptosis · Pigmentary retinopathy (salt-and-pepper fundus) · Cardiac conduction defects (onset before age 20)
Multiple Sclerosis (Ocular Manifestations)
Early accessHigh YieldOptic neuritis (presenting feature in ~20%) · Internuclear ophthalmoplegia (INO) · Nystagmus (multiple types)
Parinaud Dorsal Midbrain Syndrome
Early accessHigh YieldUpgaze palsy · Convergence-retraction nystagmus · Light-near dissociation of pupils
Miller Fisher Syndrome
Early accessModerateOphthalmoplegia (acute, bilateral) · Ataxia (cerebellar-type) · Areflexia (generalised hyporeflexia)
Tolosa-Hunt Syndrome
Early accessModeratePainful ophthalmoplegia (unilateral) · Granulomatous inflammation of cavernous sinus/superior orbital fissure · Dramatic response to corticosteroids
Uvea & Inflammatory
Sarcoidosis
Free CardHigh YieldNon-caseating epithelioid granulomas · Bilateral hilar lymphadenopathy · Granulomatous anterior uveitis with mutton-fat KPs
Vogt-Koyanagi-Harada Disease
Free CardHigh YieldBilateral granulomatous panuveitis · Poliosis and vitiligo · Sensorineural hearing loss
Behcet Disease
Early accessHigh YieldRecurrent oral aphthous ulcers · Genital ulcers · Hypopyon uveitis
Granulomatosis with Polyangiitis
Early accessHigh YieldNecrotizing granulomatous vasculitis of upper and lower respiratory tract · Necrotizing glomerulonephritis · Small-vessel vasculitis (c-ANCA/PR3 positive)
Reactive Arthritis
Early accessHigh YieldConjunctivitis / anterior uveitis · Urethritis · Asymmetric oligoarthritis
Systemic Lupus Erythematosus
Early accessModerateButterfly (malar) rash · Anti-dsDNA and anti-Smith antibodies · Retinal vasculitis with cotton-wool spots
Takayasu Arteritis
Early accessModeratePulseless disease (absent peripheral pulses) · Takayasu retinopathy (microaneurysms, AV anastomoses) · Aortic arch and branch vessel stenosis/occlusion
Polyarteritis Nodosa
Early accessLowNecrotizing vasculitis of medium-sized muscular arteries · Segmental, transmural inflammation with aneurysm formation · Spares pulmonary arteries and glomeruli
Genetics & Metabolic
Alport Syndrome
Early accessHigh YieldProgressive nephritis (hematuria → renal failure) · Sensorineural hearing loss (high-frequency) · Anterior lenticonus (pathognomonic)
Neurofibromatosis Type 1
Early accessHigh YieldCafé-au-lait macules (≥6) · Neurofibromas (≥2 or 1 plexiform) · Axillary/inguinal freckling (Crowe sign)
Stickler Syndrome
Early accessHigh YieldVitreoretinal degeneration (membranous or beaded vitreous) · High myopia (congenital) · Orofacial features (cleft palate, micrognathia)
Tuberous Sclerosis Complex
Early accessHigh YieldRetinal astrocytic hamartoma (mulberry lesion) · Facial angiofibromas (adenoma sebaceum) · Cortical tubers / subependymal nodules
Wilson Disease
Early accessHigh YieldKayser-Fleischer ring (pathognomonic) · Sunflower cataract · Hepatic copper accumulation
Ataxia-Telangiectasia
Early accessModerateProgressive cerebellar ataxia · Oculocutaneous telangiectasia · Immunodeficiency (humoral and cellular)
Ehlers-Danlos Syndrome
Early accessModerateSkin hyperextensibility and fragility · Joint hypermobility · Tissue fragility (vascular, ocular, visceral)
Neurofibromatosis Type 2
Early accessModerateBilateral vestibular schwannomas · Posterior subcapsular cataracts (juvenile onset) · Multiple cranial/spinal nerve schwannomas or meningiomas
Usher Syndrome
Early accessModerateRetinitis pigmentosa (RP) · Sensorineural hearing loss · Vestibular dysfunction (Type 1)
Pediatric
Congenital Syphilis (Ocular)
Free CardHigh YieldInterstitial keratitis (bilateral stromal corneal inflammation) · Hutchinson teeth (notched, peg-shaped incisors) · Eighth nerve deafness (sensorineural hearing loss)
Congenital Toxoplasmosis Syndrome
Free CardModerateMacular chorioretinal scar (headlight in fog) · Intracranial calcifications (scattered/diffuse) · Hydrocephalus
Congenital Rubella Syndrome
Early accessHigh YieldSalt-and-pepper retinopathy (most common ocular finding) · Congenital nuclear cataracts (pearly white) · Patent ductus arteriosus
CHARGE Syndrome
Early accessModerateColoboma (chorioretinal, optic nerve, or iris) · Heart defects (congenital) · Atresia choanae
Down Syndrome
Early accessModerateBrushfield spots · Epicanthic folds · Upslanting palpebral fissures
Lowe Syndrome
Early accessModerateBilateral dense congenital cataracts · Infantile glaucoma (~50%) · Renal Fanconi syndrome
Patau Syndrome
Early accessModerateMicrophthalmos / anophthalmos · Uveal colobomas (inferonasal) · Holoprosencephaly
Turner Syndrome
Early accessModerateShort stature · Webbed neck · Blue sclerae
Edwards Syndrome
Early accessLowClenched fists with overlapping fingers · Rocker-bottom feet · Congenital heart defects (>90%)
Glaucoma
Sturge-Weber Syndrome
Free CardHigh YieldPort-wine stain (nevus flammeus) in V1 distribution · Leptomeningeal angiomatosis · Ipsilateral glaucoma
Axenfeld-Rieger Syndrome
Early accessHigh YieldPosterior embryotoxon · Iris strands bridging to Schwalbe line · Corectopia/polycoria
Iridocorneal Endothelial (ICE) Syndrome
Early accessHigh YieldHammered silver corneal endothelial appearance · Peripheral anterior synechiae (PAS) formation · Iris abnormalities (atrophy, corectopia, nodules)
Posner-Schlossman Syndrome
Early accessModerateRecurrent unilateral IOP spikes (40-60 mmHg) · Mild anterior uveitis with few fine KPs · Open angle on gonioscopy
Cornea & External
Sjogren Syndrome
Free CardHigh YieldKeratoconjunctivitis sicca (dry eyes) · Xerostomia (dry mouth) · Lymphocytic infiltration of exocrine glands
Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis
Free CardHigh YieldMucocutaneous blistering/necrosis · Fever and malaise · Cicatrizing conjunctivitis with symblepharon
Cogan Syndrome
Early accessModerateNon-syphilitic interstitial keratitis · Vestibuloauditory dysfunction (Meniere-like)
Cataract & Refractive
Floppy Iris Syndrome
Free CardHigh YieldBillowing and undulating iris stroma · Iris prolapse toward phaco/side-port incisions · Progressive intraoperative miosis
Marfan Syndrome
Free CardHigh YieldSuperotemporal lens subluxation (ectopia lentis) · Skeletal abnormalities (tall stature, arachnodactyly) · Cardiovascular (aortic root dilation, MVP)
Homocystinuria
Early accessHigh YieldInferonasal lens subluxation · Marfanoid habitus · Thromboembolism
Retina & Vitreous
Von Hippel-Lindau Disease
Early accessHigh YieldRetinal capillary hemangioblastomas · CNS hemangioblastomas (cerebellum) · Renal cell carcinoma
Irvine-Gass Syndrome
Early accessModerateCystoid macular edema after cataract surgery · Petaloid pattern of fluorescein leakage on FFA · Peak incidence 4-6 weeks post-operatively
Klippel-Trenaunay Syndrome
Early accessModeratePort-wine stain (capillary malformation) · Venous malformations/varicosities · Limb hypertrophy
Wyburn-Mason Syndrome
Early accessModerateRetinal arteriovenous malformation (AVM) · Ipsilateral brain AVM (midbrain/thalamus) · Facial/orbital AVM (variable)
Oculoplasty & Orbit
Apert Syndrome
Early accessModerateCraniosynostosis (coronal) · Midface hypoplasia · Syndactyly (mitten-hand deformity)
Marcus Gunn Jaw-Winking Syndrome
Early accessModerateUnilateral congenital ptosis with synkinetic lid elevation · Jaw movement (opening, lateral excursion) causes ipsilateral lid retraction · Aberrant connection between CN V3 (pterygoid) and CN III (levator)
Nevus of Ota
Early accessModerateBlue-gray periorbital skin hyperpigmentation in V1/V2 distribution · Ipsilateral episcleral/uveal melanocytosis · Increased risk of glaucoma and uveal melanoma