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83 Cards in this Set
- Front
- Back
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MOBIUS Syndrome (6)
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Affects CN VI, VII, and IX
Hand/limb abnormalities Hypoplastic tongue Bilateral abduction or gaze palsy Bilateral hypoglossal paralysis Bilateral facial paralysis |
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WAGR (ie. Oculocutaneous Syndrome of Miller) (4)
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Wilms tumor
Aniridia Genitourinary abnormalities Mental retardation |
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Hermansky-Pudlack Syndrome (5)
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Albinism
Autosomal recessive Platelet dysfunction Pulmonary fibrosis Granulocytic colitis |
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Chediak-Higushi Syndrome (3)
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Albinism
Autosomal recessive Leukocyte dysfunction |
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Septo-Optic Dysplasia DeMorsier Syndrome (4)
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Optic nerve hypoplasia
Associated with hypopituitary Pituitary dwarfism Associated with agenesis of the corpus collosum Absence of septum pellucidum See-saw nystagmus Chiasmal defects |
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Goldenhar Syndrome (8)
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Sporadic
Unilateral or bilateral lid colobomas Pre-auricular skin tags Vertebral abnormalities Limbal dermoids Microtia Macrostomia Heart disease |
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Reiger’s SyndromeReiger’s anomaly
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Reiger’s anomaly
Glaucoma Systemic findings Dental/facial abnormalities Telecanthus Microdentia Broad flat nose Mental retardation Umbilical hernia |
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Lowe’s Syndrome Oculocerebral Renal Syndrome
(6) |
X-linked recessive
Bilateral cataracts Glaucoma Mental retardation Amino aciduria Renal ricketts |
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Weill-Marchesani Syndrome
(3) |
Short stature
Stubby fingers Spherophakia |
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Alport’s Syndrome
(6) |
Males
Hemorrhagic nephritis Deaf Bilateral anterior polar cataract Associated with PPMD Abnormal type III collagen |
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Fabry’s
(3) |
X-linked
Corneal verticellata Spoke-like cataracts |
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Galactosemia
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Oil droplet cataract
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Goldman-Favre Syndrome
(8) |
Autosomal recessive
Foveal and peripheral schisis Abnormal EOG and ERG Attenuated vessels Vitreous strands/veils Empty vitreous Cataracts Pale optic nerves |
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Gorlin-Goltz Syndrome
(3) |
Autosomal dominant
Multiple basal cell nevus syndrome Associated with myelinated nevi |
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Kassabach-Merritt Syndrome
(2) |
Thrombocytopenia due to sequestration in large capillary hemangiomas
Visceral capillary hemangiomas |
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Waardenberg Syndrome
(7) |
Autosomal dominant
Heterochromia iridis Deaf White forelock Hypertelorism Eyelid abnormalities Telecanthus |
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Pierre-Robin Syndrome
(4) |
Sporadic
Cleft palate Hypoplastic mandible Associated with Stickler’s |
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Crouzon Syndrome
(6) |
Autosomal dominant
Maxillary hypoplasia Forelock “Hooked nose” Deaf Seizure disorder |
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Apert Syndrome (Acrocephalosyndactyly)
(4) |
Autosomal dominant
Syndactyly of hands/feet Mid-face hypoplasia Mental retardation |
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Pfeiffer Syndrome
(3) |
Autosomal dominant
Short thumbs/toes Syndactyly |
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Fetal Alcohol Syndrome
(6) |
Blepharophimosis
Ptosis Telecanthus Optic nerve hypoplasia Anterior segment dysgenesis Strabismus |
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Aicardi Syndrome
(7) |
Girls only
X-linked dominant Optic nerve hypoplasia Clear retinal lacunae Abscent corpus collosum Seizure disorder Mental retardation |
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Riley Day Syndrome
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Familial dysautonomia
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Things associated with Duane’s Syndrome
(8) |
Cataracts
Iris abnormalities Marcus Gunn pupil Crocodile tears Microphthalmia Goldenhar syndrome Maternal thalidamide Klippel-Feil syndrome |
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Riddoch Phenomena
(2) |
Occipital lobe injury
Perceive moving targets not static ones |
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Brun’s Nystagmus
(3) |
Acoustic neuroma/meningioma
Large amplitude, low frequency while looking toward the lesion Low amplitude high frequency while looking away from the lesion Drifts to the side of the lesion (fast away), as the lesion enlarges there is brainstem compression so the fast phase changes direction toward the ipsilateral side with a more coarse beat |
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Parinaud’s Syndrome
(5) |
Convergence retraction on attempted upgaze
Abscent upgaze (supranuclear) Light-near dissociation Collier lid retraction Papilledema |
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One & a Half Syndrome (Gaze Palsy with INO)
(3) |
Lose of ipsilateral Adduction and Abduction
Contralatral Abduction only Due to CVA or pontine neoplasm |
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Millard-Grubler Syndrome
(3) |
Ipsilateral CN VI and VII affected
Contralateral hemiplegia Due to a pontine tumor |
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Nothnagel Syndrome
(3) |
CN III affected
Lesion in the superior cerebellar peduncle Ataxia |
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Benedict Syndrome
(3) |
CN III affected
Lesion in the red nucleus and medial lemniscus Contralateral loss of sensation with rubral tremor |
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Claude Syndrome
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Benedict plus Nothnagel
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Weber Syndrome
(3) |
CN III affected
Lesion in the cerebral peduncle Contralateral spastic paralysis |
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Holes-Adie’s Syndrome
(3) |
Adie’s pupil
Decrease in deep tendon reflexes Orthostatic hypotension |
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Miller-Fischer Syndrome (Bulbar variant of Guillian Barre)
(3) |
Areflexia
Ataxia Ophthalmoplegia |
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Meige Syndrome
(2) |
Bilateral blepharospasm
Facial grimacing |
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MELAS
(4) |
Mitochondrial myopathy
Encephalopathy Lactic acidosis Stroke-like episodes |
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Oculopharyngeal Dystrophy
(3) |
Autosomal dominant
Progressive dysphagia with ptosis Usually French/Canadian descent |
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Gradenigo Syndrome
(4) |
CN VI affected with facial pain
Transverse sinus thrombosis Decreased hearing Otitis with mastoiditis due to petrositis |
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Pulfrich Phenomena
(2) |
Conduction delay in one optic nerve following an episode of optic neuritis
Altered perception of motion Pendulum may appear to trace and elliptical pathway instead of its true single-plane oscillation |
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Basal Encephalocele
(4) |
Hypertelorism
Dysplastic optic nerve Midline face/skull defects Associated with transphenoidal encephalocele |
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Disconnect Syndrome
(4) |
Dominant occipital lobe and splenium of the corpus collosum
Right homonymous hemianopia Alexia without agraphia Due to posterior cerebral artery stroke |
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Palinopsia
(3) |
Multiple afterimages
Non-dominant occipital lobe lesion Visual hallucinations may also be present |
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Stephen’s Syndrome
(3) |
CPEO
Ataxia Peripheral neuropathy |
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Wall-Eyed bilateral INO (WEBINO Syndrome)
(3) |
Both MLF gone
3rd nucleus affected Exotropia in primary gaze |
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Blepharophimosis
(5) |
Autosomal dominant
Telecanthus Epicanthus inversus Ptosis Associated with primary amennorhea |
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Von Graeffe’s Sign
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Upper lid lags up on downgaze in Graves disease
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Hand-Schuller-Christian Syndrome
(4) |
Diabetes insipidus
Exophthalmos Multifocal boney lesions Associated with histiocytosis |
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Letterer-Siwe Syndrome
(4) |
Most severe and malignant form of histiocytosis
Fatal with visceral involvement Affects infants younger than 2 years old Rarely involves the eye |
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Leser-Trelat Sign
(3) |
Sudden, multiple seborrheic keratoses
Evolving acanthosis nigricans Associated with a malignancy Usually a GI adenocarcinoma |
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Brown-McLean Syndrome
(4) |
Peripheral corneal edema with clear center
Occurs most commonly after intracapsualr cataract surgery Can occurs after phacoemulsification Can progress centrally in rare cases |
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Axenfeld-Reiger Syndrome
(6) |
Abnormal teeth
Abnormal facial bones Maxillary hypoplasia Redundant periumbilical skin Pituitary abnormalities Hypospadius |
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Peter’s Syndrome
(8) |
80% bilateral
Heart abnormalities GU abnormalities Musculoskeletal abnormalities Ear abnormalities Palate abnormalities Spine abnormalities Increase in systemic findings with I-K touch |
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Gillespie Syndrome
(3) |
Autosomal recessive
2% of aniridia Cerebellar ataxia with mental retardation |
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Hallermann-Streiff Syndrome
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Bird “facies”
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Mikulicz Syndrome
(2) |
Chronic dacroadenitis
Swollen salivary glands |
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Munnerlyn Formula
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Ablation depth = (D/3) x (optical zone)2
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Fraser Syndrome
(5) |
Cryptophthalmos
Renal agenesis Laryngeal agenesis Syndactyly Aural/genital anomalies |
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Trisomy 13
(6) |
Anophthalmia
Synophthalmia Microphthalmia Coloboma with cartiledge PHPV Retinal dysplasia |
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Klippel-Trenaunay-Weber Syndrome
(5) |
Unilateral or bilateral gigantism
Hemihypertrophy of the limbs Intracranial angiomas Associated with Sturge-Weber when there are lesions in the extremities Ocular involvement is uncommon Congenital glaucoma and conjunctival telangiectasia |
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MEN IIb
(8) |
Autosomal dominant
Pheochromocytoma Medullary thyroid carcinoma Enlarged corneal nerves Typical facies Marfanoid Submucosal neuromas Dry eyes |
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Muir-Torre Syndrome
(2) |
Multiple sebaceous gland neoplasia
Visceral cancers |
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Hereditary Benign Intraepithelial Dyskeratosis (HBID)
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Haliwa-Saponi Indians of North Caroloina
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Norries
(4) |
X-linked
Bilateral malformed retina Mental retardation Deaf |
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Cogan’s Syndrome
(6) |
Interstitial keratitis
Vertigo Tinnitus Hearing loss Polyarteritis URI prodrome |
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Cowden Disease
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Trichilemmoma
Breast cancer Thyroid cancer GI cancer |
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Wallenberg Syndrome
(3) |
Lateral medullary CVA
Hypothalimus/Pontine injury Creates a 1st degree Horner’s Syndrome |
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Pancoast Tumor
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Common tumor causing 2nd degree Horner’s syndrome
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Talosa-Hunt Syndrome
(3) |
Granulomatous inflammation in the cavernous sinus
Ie. Posterior pseudotumor Treat with steroids |
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Refsum Disease
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Increased phytanic acid
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Bassen-Kornzweig Syndrome
(2) |
Autosomal recessive
Abetalipoproteinemia |
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Usher Syndrome
(3) |
Autosomal recessive
Pigmentary retinopathy Deafness |
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Bardet-Biedl Syndrome
(8) |
Autosomal recessive
Chromosome 16 Pigmentary retinopathy Hypogenitalism Polydactyly Obese Mild mental retardation Progressive visual field loss |
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Lawrence-Moon Syndrome
(2) |
Autosomal recessive
Bardet-Biedl Syndrome without polydactyly |
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Alstrom Syndrome
(3) |
Bardet-Biedl Syndrome plus
Diabetes mellitus Deafness |
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Kearns-Sayre Syndrome
(3) |
CPEO
Complete heart block Pigmentary retinopathy |
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Sorsby Macular Dystrophy
(5) |
Autosomal dominant
Bilateral subfoveal CNV by 40yo Numerous fine drusen-like deposits or a confluent plaques of faintly yellow material beneath the RPE of the posterior pole Chromosome 22 Gene is TIMP3 |
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Gyrate Atrophy
(6) |
Autosomal recessive
Increased ornithine levels Treat with restricted arginine and Vit B6 Hyperpigmented fundi Lobular loss of RPE and choriocapillaris Classic scalloped border |
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Ciancia Syndrome
(3) |
Large ET
Cross fixation Nystagmus |
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Morning Glory Disc
(7) |
Female
Usually unilateral Funnel-shaped staphalomatous excavation of the optic nerve and peripapillary retina Emination of the retinal vessels from the periphery of the disc Non-rhegmatogenous serous RD in 26-38% Midline abnormalities Need to R/O encephalocele |
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Spielmeyer-Vogt-Batten-Mayou Syndrome
(4) |
Bull’s eye maculopathy
Seizure disorder Dementia Ataxia |
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Meretoja Syndrome
(4) |
Type II lattice
Systemic amyloid Cranial and peripheral neuropathies Mask-like facies |
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Diffuse Unilateral Subacute Neuroretinitis (DUSN)
(3) |
Toxocara canis
Baylisascaris procyonis Ancylostoma caninum |
