Term
|
Definition
| Vertical skin folds in the medial canthal area |
|
|
Term
| Epicanthal Folds are Associated with? |
|
Definition
1. Telecanthus
2. Downs Syndrome
3. Fetal Alcohol Syndrome
4. Cri du Chat Syndrome
5. Klinefelter Syndrome
6. Turner Syndrome
7. Ehlers-Danlos Syndrome |
|
|
Term
|
Definition
| A medial skin fold sweeping upward from below |
|
|
Term
| What are the Epicanthal Fold Types? |
|
Definition
1. Epicanthus Tarsalis - most prominent superiorly
2. Epicanthus Inversus - most prominent inferiorly
3. Epicanthus Palpebralis - equally distributed between superior and inferior
4. Superciliaris - arises above the brow and extends downwards to the lateral aspect of the nose |
|
|
Term
|
Definition
An abnormally increased distance between the medial canthi of the eyelids
Frequently found in FAS
Associated with Blepharophimosis |
|
|
Term
| Description of Primary Telecanthus |
|
Definition
| The inner canthi are farther apart, although the outer canthi are normally spaced. |
|
|
Term
| True Ocular Hypertelorism |
|
Definition
| Both inner and outer canthi are abnormally far apart |
|
|
Term
|
Definition
Melanosome Problem
Results in depigmentation of iris
4 Types:
Type 1 - telecanthus present
Type 2 - no telecanthus
Type 3 & 4 - rare |
|
|
Term
|
Definition
Blepharophimosis, Ptosis, Epicanthis Inversus Syndrome
Type 1 associated with ovarian failure |
|
|
Term
|
Definition
| Horizontal fold of skin stretches across the border of the eyelid; may press the eyelashes inward |
|
|
Term
|
Definition
| Inturning of lower or upper lid |
|
|
Term
| Upper Lid Entropion is usually secondary to.. |
|
Definition
|
|
Term
| Lower Lid Entropion is caused by... |
|
Definition
| Improper development of the lower lid retractors |
|
|
Term
|
Definition
Notch or full-thickness defect of the eyelid
Can occur congenitally or from trauma |
|
|
Term
| Eyelid Colobomas are associated with... |
|
Definition
1. Goldenhar Syndrome (superior)
2. Treacher Collins Syndrome (inferior)
3. Cryptophthalmos
4. Fraser Syndrome |
|
|
Term
|
Definition
(Small Eyelids)
Rare congenital anomaly manifested by a vertical shortening of the eyelids
Causes nocturnal lagophthalmos, corneal exposure, and cosmetic deformity |
|
|
Term
|
Definition
|
|
Term
|
Definition
(Small Eye)
Extremely small and malformed globe
Can result from a problem in development of the globe at any stage of growth of the optic vesicle |
|
|
Term
|
Definition
| No association with any other major ocular manifestations |
|
|
Term
|
Definition
| Associated with coloboma, usually of the iris |
|
|
Term
|
Definition
Oribital cyst forms secondary to failure of the optic fissure to close
Associated mainly with clefting syndromes |
|
|
Term
|
Definition
| Reduced total axial length with normal corneal diameter |
|
|
Term
|
Definition
|
|
Term
|
Definition
Complete failure of budding of optic vesicle
Associated absence of extraocular muscles and microblepharon |
|
|
Term
|
Definition
AKA Congenital cystic eyeball
Globe is replaced by a cyst |
|
|
Term
|
Definition
Most common type of cryptophthalmos
The eyelids do not form and the eyelid skin grows continuously from the forehead to the cheek covering the underlying globe |
|
|
Term
| Incomplete Cryptophthalmos |
|
Definition
| Presents with facial skin fusing to the medial aspect of the globe with no eyelid structures in that area |
|
|
Term
| Symblepharon Cryptophthalmos |
|
Definition
| Presents with fusion of the upper eyelid skin to the superior portion of the globe |
|
|
Term
| Syndromes associated with cryptophthalmos are... |
|
Definition
1. Fraser's Syndrome
2. Cryptophthalmos-syndactyly Syndrome |
|
|
Term
|
Definition
Total Ankyloblepharon
Eyelids form but fail to separate
Excellent visual potential following surgery |
|
|
Term
|
Definition
-Congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure
-Eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malposition and lateral ectropion
-May be an isolated finding or associated with ocular anomalies like lateral displacement of the proximal lacrimal drainage system, a double row of meibomian glad orifices, telecanthus, and strabismus |
|
|
Term
| Congenital Upper Lid Eversion |
|
Definition
Most common in African-Americans and Downs syndrome children
Tend to grow out of it
Management: prevent desiccation of the exposed conjunctiva and allow spontaneous inversion of the lid |
|
|
Term
|
Definition
-Genetic disorder known as a branchial arch syndrome.
-Specifically affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible
-Infant's skull and facial bones, while in development, fuse early or are unable to expand
- Specifically premature fusion of coronal and sagittal sutures |
|
|
Term
| Usual Presentation of Crouzon |
|
Definition
1. Brachycephaly - results in the appearance of a short and broad head
2. Exophthalmos - due to shallow eye sockets after early fusion of surrounding bones
3. Hypertelorism - orbit will be wider
4. Strabismus - exotrope |
|
|
Term
| Ocular Associations with Crouzon |
|
Definition
1. Aniridia
2. Blue Sclera
3. Cataract
4. Ectopia Lentis
5. Glaucoma
6. Coloboma
7. Megalocornea
8. Optic nerve hypoplasia - 'double ring sign'
9. V-pattern exotropia
10. papilledema from increased intracranial pressure |
|
|
Term
|
Definition
Very similar to Crouzons but with Parrot-Beak and fusion of hands and feet
Also high arched palate, cleft palate, anomalies of heart, lung, and kidney, acneiform skin eruptions, and mental handicap |
|
|
Term
| Ocular Associations with Apert Syndrome |
|
Definition
1. Keratoconus
2. Ectopia lentis
3. Congenital glaucoma
4. Corneal exposure
5. Optic atrophy - from glaucoma
6. Papilledema |
|
|
Term
|
Definition
| Condition resulting from premature fusion of the sutures of the skull and deformity of the skull |
|
|
Term
| Ocular Signs of Pfeiffer Syndrome |
|
Definition
1. Proptosis secondary to shallow orbits
2. Hypertelorism
3. Strabismus
4. Optic Atrophy
5. Papilledema |
|
|
Term
| Treacher Collins Syndrome |
|
Definition
A mandibulofacial dystosis
Result of the zygoma failing to fuse with the maxilla, frontal, and temporal bones |
|
|
Term
| Treacher Collins Syndrome Characterisitics |
|
Definition
1. Downward slanting eyes
2. Small lower jaw
3. Malformed or missing ears
4. Inferior lid colobomas
5. Cataracts
6. Microphthalmos |
|
|
Term
|
Definition
Congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible.
Thought to be from a vascular accident in the fetus |
|
|
Term
| Characteristic of Goldenhar Syndrome |
|
Definition
1. Preauricular skin tags
2. Limbal dermoids
3. Lid colobomas |
|
|
Term
| Ocular Signs of Goldenhar Syndrome |
|
Definition
1. Epibulbar dermoid
2. Upper-lid notch or coloboma
3. Microphthalmos
4. Disc coloboma
5. Strabismus |
|
|
Term
|
Definition
|
|
Term
| Microcorneas may be associated with.. |
|
Definition
1. Microphthalmos
2. Coloboma - iris, retina, or choroid
3. Shallow AC
4. Glaucoma
5. Congenital Cataract
6. Leukoma
7. Cornea Plana
8. Reiger Anomaly
9. Microphakia
10. Optic nerve hypoplasia |
|
|
Term
|
Definition
- Bilateral corneal enlargement with a diameter of >12mm at birth and >13mm after 2 years of age
- Corneal thickness normal and stroma clear
- Limbus sharply demarcated
- Keratometry usually normal but may be steeper than normal
- Distinct from buphthalmos which comprises an elevated intraocular pressure and an enlarged globe as well as an enlarged cornea |
|
|
Term
|
Definition
| Megalocornea-Mental Retardation Syndrome |
|
|
Term
|
Definition
| Megalocorna with enlarged lens and a ciliary body band wider than the trabecular meshwork and scleral spur on gonioscopy. |
|
|
Term
| Anterior Megalophthalmos can lead to.. |
|
Definition
1. Pigment dispersion
2. Lens subluxation
3. Ectopia lentis
4. Glaucoma |
|
|
Term
|
Definition
| Scleralization of the cornea in which the peripheral cornea and sometimes the entire cornea is opacified by thick collagen bundles and vascularization without antecedent inflammation |
|
|
Term
|
Definition
Abnormally flat cornea ranging between 30-35D
Most common ocular association of sclerocornea
BIlateral |
|
|
Term
| Keratolenticular Dysgenesis |
|
Definition
Lens vesicle separates but then fails to form appropriately
Disruption of iris and lens behind sclerocornea |
|
|
Term
| Congenital Anterior Staphyloma |
|
Definition
Opaque cornea protrudes the eyelids
Unilateral
Due to inrauterine keratitis
Poor visual prognosis
Enucleation likely
CAS has cornea lined posteriorly with uveal tissue |
|
|
Term
|
Definition
| Can occur as early as 1 week after LASIK or they can be delated up to several years after the initial procedure. |
|
|
Term
|
Definition
| When posterior corneal surface has increased curvature and a normal anterior corneal surface |
|
|
Term
| Generalized Posterior Keratoconus |
|
Definition
Entire posterior K surface has increased curvature
(Keratoconus posticus totalis) |
|
|
Term
| Circumscribed Posterior Keratoconus |
|
Definition
| Localized craterlike lesion in central posterior corneal surface. More common than generalized posterior keratoconus. |
|
|
Term
| What can occur with Posterior Keratoconus? |
|
Definition
1. Corneal Haze
2. Endothelial Pigment
3. Guttata |
|
|
Term
| What are some associated ocular abnormalities with Posterior Keratoconus? |
|
Definition
1. Corneal nebulae
2. Endothelial precipitates
3. Anterior lenticonus
4. Aniridia
5. Iris atrophy
6. Ectropion uvea
7. Mesodermal tissue in angle
8. Choroidal or retinal sclerosis |
|
|
Term
|
Definition
Anterior conical protrusion of the central lens surface (up to 3-4mm) caused by the thinning of affected anterior capsule.
- Fragile basement membrane. |
|
|
Term
| 90% of people with anterior lenticonus also have __________. |
|
Definition
|
|
Term
| Ocular findings with Alport's Syndrome |
|
Definition
1. Spherophakia
2. Anterior polar and posterior cortical cataract
3. Fundus lesions such as drusen, retinal flecks and retinal neovascularization
4. Dot and fleck retinopathy |
|
|
Term
| Systemic findings with Alport Syndrome |
|
Definition
1. Hematuria
2. Sensorineural deafness
3. Hearing loss by late childhood
4. Hearing loss always associated with renal failure, but hearing loss happens first |
|
|
Term
|
Definition
- Unilateral usually
- No systemic abnormalities |
|
|
Term
|
Definition
1. very rare
2. unilateral usually
3. associated with posterior polar lens opacity |
|
|
Term
|
Definition
| Crystalline lens is small and spherical with increased antero-posterior thickness. |
|
|
Term
| Microspherophakia is associated with what diseases? |
|
Definition
1. Marfan's
2. Weill-Marchesani
3. Hyperlysinemia
4. Congenital rubella |
|
|
Term
| The ocular associations with microspherophakia are what? |
|
Definition
1. Glaucoma
2. Familial ectopia lentis et pupillae
3. Peter's anomaly
4. Lenticular myopia |
|
|
Term
|
Definition
-Skeletal malformations
-Short stature
-Brachycephaly
-Limited joint mobility
-Ocular abnormalities
- ectopia lentis
- microspherophakia
- lenticular myopia |
|
|
Term
|
Definition
| Lens has a smaller than normal diameter |
|
|
Term
|
Definition
| Lens is small and disc-like |
|
|
Term
| What is the diagnostic triad for Lowe's Syndrome? |
|
Definition
1. congenital cataracts
2. neonatal or infantile hypotonia with subsequent mental impairment
3. renal tubular dysfunction |
|
|
Term
| 50-60% of boys with Lowe's have what? |
|
Definition
Glaucoma, with or without buphthalmos
Usually bilateral glaucoma diagnosed typically in the first year of life but may present at any age |
|
|
Term
|
Definition
-Segmental agenesis rather than true coloboma
-focal absence of zonular support with inferior flattening secondary to ciliary body coloboma
- coloboma may be caused by cysts, and/or tumors of the ciliary body |
|
|
Term
|
Definition
-Thickened anteriorly displaced Schwalbe's Line
-Present with no associated ocular abnormalities in 10% of eyes |
|
|
Term
| Posterior Embryotoxin is associated with what? |
|
Definition
1. Axenfield-Rieger Syndrome
2. Alagille's Syndrome |
|
|
Term
|
Definition
| Posterior embryotoxin coupled with peripheral iris processes extending to or beyond prominent Schwalbe's line |
|
|
Term
|
Definition
| when the anomaly is present with associated glaucoma |
|
|
Term
|
Definition
-Axenfeld's anomaly with pigmentary retinopathy
-Neonatal jaundice in 70% as hepatic disease is a key feature
- Most frequent ophthalmic finding is posterior embryotoxin |
|
|
Term
|
Definition
Triad of Peripheral Angle Anomalies
1. Axenfeld's Anomaly
2. Iris Atrophy/Hypoplasia
3. Correctopia |
|
|
Term
|
Definition
| Reserved for patients with Reiger's Anomally and associated dental, facial, cranial, and skeletal abnormalities; also mental retardation |
|
|
Term
|
Definition
-Collection of developmental abnormalities involving central anterior segment.
- Central corneal scar with absent or defective posterior stroma, descemet's, and endothelium |
|
|
Term
|
Definition
Lens may or may not be involved.
Central iris will connect to posterior edges of the area of leukoma |
|
|
Term
|
Definition
Lens Involvement:
1. Cataracts
2. Abnormal lens position
3. lens adherence to the abnormal posterior cornea |
|
|
Term
| In cases with Peter's Anomaly where anterior segment is not visible due to corneal scarring, you must do what? |
|
Definition
|
|
Term
| Treatment for Peter's Anomaly |
|
Definition
1. Preventing amblyopia
2. Controlling glaucoma
3. May include penetrating keratoplasty (PK) and or cataract extraction |
|
|
Term
|
Definition
-Congenital absence of iris
-Gonioscopically, iris stump present |
|
|
Term
| Patients with aniridia may complain of what? |
|
Definition
1. Photophobia
2. decreased VA's |
|
|
Term
| Patient's complaints due to aniridia are due to what? |
|
Definition
- Lens abnormalities
- Foveal or optic nerve hypoplasia
- Corneal disruption
- Amblyopia
- Nystagmus
- Glaucoma |
|
|
Term
| Patients with aniridia may complain of corneal surface disease: |
|
Definition
- Superficial haze or opacification with peripheral pannus
- Irregular epithelium - whorl pattern and staining
- Stromal scarring |
|
|
Term
| Sporadic occurrence of aniridia (AN2) may be associated with what? |
|
Definition
| Wilm's tumor (30% or aniridia patients) |
|
|
Term
|
Definition
Wilm's Tumor
Aniridia
Genitourinary malformations
Retardation |
|
|
Term
|
Definition
| Aniridia and Wilm's tumor |
|
|
Term
| Aniridia AN3 is associated with? |
|
Definition
Gillespie's Syndrome
- Mental retardation
- Cerebellar ataxia |
|
|
Term
|
Definition
-Embryologic remnant of the hyaloid artery as it joins the tunica vasculosa
-Represents the remains of the anterior end of the hyaloid artery |
|
|
Term
| Mittendorf Dot may be associated with what? |
|
Definition
1. Posterior Lenticonus
2. Lentiglobus
3. Microspherophakia |
|
|
Term
| Persistent Pupillary Membrane |
|
Definition
Mesodermal remnants of the tunica vasculosa lentis.
More common in dark eyes |
|
|
Term
| Type 1 Persistent Pupillary Membrane |
|
Definition
| Has attachments only to the iris |
|
|
Term
| Type 2 Persistent Pupillary Membrane |
|
Definition
| Has irido-lenticular adhesions |
|
|
Term
|
Definition
| Eversion of the eyelid margin |
|
|
Term
|
Definition
Due to lid laxity and sagging of lower lid
Most common cause of ectropion in adults |
|
|
Term
|
Definition
| Mainly due to burns, trauma, or chronic inflammation |
|
|
Term
|
Definition
| Secondary to vertical shortening of skin |
|
|
Term
|
Definition
| Atopic dermatitis, zoster, rosacea |
|
|
Term
|
Definition
| Secondary to edema, lid tumors |
|
|
Term
|
Definition
Usually after CN VII Palsy
Bell's Palsy |
|
|
Term
|
Definition
| Malposition resulting in inversion of the eyelid margin |
|
|
Term
|
Definition
- An acute infection of an eyelid gland
- cellulitis of the surrounding soft tissues may develop |
|
|
Term
|
Definition
| A chronic, sterile, granulomatous inflammatory lesion caused by retained sebaceous secretion leaking from the meibomian glands or other sebaceous glands in to adjacent stroma |
|
|
Term
| Recurrent chalazions in elderly are linked to what?? |
|
Definition
Sebaceous Carcinoma!
Squamous Cell Carcinoma |
|
|
Term
| Recurrent chalazions in children can be from what? |
|
Definition
Hyperimmunoglobulinemia E
- Hyper-IgE Syndrome
- Job Syndrome |
|
|
Term
|
Definition
-Result from the proliferation of epidermal cells within a circumscribed space of the dermis
-Appear as firm, round, mobile, flesh colored to yellow or white subcutaneous nodules of variable size |
|
|
Term
|
Definition
-Sebaceous cyst
-Blocked lash follicle
-Contains keratin and degenerated epithelial cells, granules of fat, and cholesterin in a connective tissue sac |
|
|
Term
|
Definition
| Abnormal proliferation of aprocrine secretory gland |
|
|
Term
|
Definition
-Benign, cystic proliferations of the apocrine sweat glands
-Often larger and less likely to be periorbital |
|
|
Term
|
Definition
| Rare, benign, cystic lesions with a lining that resembles that of the eccrine sweat gland and may be solitary or multiple |
|
|
Term
|
Definition
-Cellular proliferation of intraepidermal duct eccrine sweat gland epithelium
-Considered a benign neoplasm
-Usually first appear at pubery |
|
|
Term
|
Definition
| Caused by occlusion of pilosebaceous units resulting in retention of keratin (dead skin cells) and represent tiny epidermal cysts |
|
|
Term
|
Definition
AKA Blackheads if open, Whiteheads if closed
Occur in patients with acne vulgaris
Consist of a plug of keratin and sebum within the dilated orifice of a hair follicle or sebaceous follicle |
|
|
Term
|
Definition
-Benign hyperplasia of the squamous epithelium
-More common in older folks
-Have central vascular core
-Hyperkeratotic |
|
|
Term
| What are some differentials for squamous papilloma? |
|
Definition
1. viral wart
2. seborrhoeic keratosis
3. intradermal nevus
4. carcinoma |
|
|
Term
| Viral Papilloma (Verruca Vulgaris) |
|
Definition
Associated with HPV (6,11,16)
May be spread by direct contact or by excision |
|
|
Term
|
Definition
AKA Basal Cell Papilloma or Senile Verruca
-Has "stuck on" appearance
-Looks like a raisin |
|
|
Term
| What are some differentials for seborrheic keratosis? |
|
Definition
1.Pigmented basal cell carcinoma
2.Nevus
3.Melanoma |
|
|
Term
| What is sign of Lesser-Trelat? |
|
Definition
| The association of multiple eruptive seborrheic keratoses with internal malignancy |
|
|
Term
|
Definition
AKA Solar or senile keratosis
*Most common precancerous skin lesion
-Chronic skin exposure
-25% develop squamous cell carcinoma
-Keratotic growths surround errythema |
|
|
Term
|
Definition
AKA Molluscum sebaceum
-Ulcerated centrally
-Keratin filled crater
-Pink, rapid growing, hyperkeratotic lesion
-Becomes static for a few months
-Begins spontaneous involution |
|
|
Term
|
Definition
| A multiple lesion, autosomal dominant type of keratoacanthoma |
|
|
Term
| What are some differential diagnoses for Keratoacanthoma? |
|
Definition
1. squamous cell carcinoma
2. basal cell carcinoma |
|
|
