Vitreous And Retinal Abnormalities In Kids Flashcards
1
Q
Down syndrome (trisomy 21)-ocular and facial features
A
DI canthus Upward slanting of palpebral fissure Congential or acquired cataracts Nystagmus NLDO Blepharitis Ectropion Strabismus Hypoaccommodation Myopia, astigmatism Flat nose bridge Thin upper lip Hypotonia Protruding tongue
2
Q
Craniosynostosis
A
- premature closure of one or more of the cranial sutures during the embryonic period or early childhood
- it prevents perpendicular (lateral) growth, or parallel (anterior to posterior) growth, but allows growth at other sutures
- meatier suture closure could be assocaited with genetic abnormalities or sporadic
3
Q
Associated syndromes of craniosynostosis
A
- crouzon syndrome
- apert syndrome
4
Q
Crouzon syndrome
A
Forehead retrusion, inferior scleral show, proptosis, beaklike nose, hydrocephalus
5
Q
Apert syndrome
A
Similar to crouzon with tower skull, depression of nasal bridge, trapezoid shaped mouth, BUT also fused digitis of hands and feet, widerset eyes
6
Q
Ocular complications of craniosynostosis
A
- proptosis (variable)
- corneal exposure from proptosis, lagophthalmos, keratitis could occur
- globe luxation-globe actually bulging out
- vision loss-corneal compromise/scarring, uncorrected refractive error, optic nerve compromise, amblyopia
- strab-XT is common but deviation ca vary
- optic nerve abnormalities-optic nerve edema from increases ICP, atrophy
- ocular adnexa abnormalities-hypertelorism, telecanthus, ptosis, nasolacrimal abnormalities. Epiphora, poor blinking from proptosis
7
Q
Craniosynostosis managment
A
- reconstructive surgery in severe cases
- need pre-and post op documentation of visual function
- centers have teams for these cases-facial plastics, eye care, oral surgeons
8
Q
Goldenhar syndrome
A
- hemifacial microsomia (unilateral or bilateral) leading to facial asymmetry
- sporadic
- limbal dermoids
- hypoplastic ear (microtia)
- could also have microphthalmia
- cataract
- Duane syndrome is common
- normal intelligence
- the dermioid can cause astigmatism and anisometropia which can lead to amblyopia
9
Q
Treacher Collins syndrome
A
- maxillary and mandivular hypoplasia/agenesis
- cheek and lateral orbital rims are depressed
- palpebral fissures slant downward
- curve or notch of inferiotemproal eyelid margin
- ears are malformed and hearing loss is common
- normal intelligence
- low set ears
- AD
10
Q
Fetal alcohol syndrome
A
- craniofacial abnormalities due to uterus exposure to alcohol
- growth retardation
- MR
- telecanthus and epicanthus
- asymmetric ptosis
- strab
- short palpebral fissures
- anterior segment dysgenesis
- high refractive error
- nerve hypoplasia
- long, flat philtrum
11
Q
Hemangioma
A
- proliferating capillary endothelial cells
- grow rapidly in early infancy
- common in premature infants
- common in girls
- unapparent at birth, but rapid growth over first few months of life
- can cause amblyopia
- slowly regresses
12
Q
Hemangioma Dx
A
- by clinical presentation
- by MRI or ultrasound to determine extent, especially if preseptal, or postseptal
13
Q
Treatment of hemangioma
A
- observation for small, non amblyopic lesions
- propranolol induces involution (just in past 10 years)
- topical timolol?
- steroids (topical, intralesion, or systemic) were used before propranolol
- surgical excision for well localized lesions or for reconstruction
14
Q
Dermoid
A
- common orbital lesion in kids
- cyst is lined with keratineized epithelium
- contains hair follicles, sweat glands, and sebaceous glands just like the limbal dermoid
- orbital dermoids are seen mainly superotemporal or superonasal
- painless, smooth, mobile
- no visual symptoms, but can remodel bone
- surgical excision-make sure cyst does not rupture to prevent scarring and inflammation
15
Q
Coats disease
A
- acquired, unknown etiology, isolated
- classics yellow subretinal and intraretinal lipid exudates from retinal vessel abnormalities (telangiesctasia, tortuosity, aneurysm dilation, retinal cap non perfusion)
- varies from mild changes to total retinal detachments
- more common in males
- mostly unilateral
- at about 6-8 years old, can be seen in infants
- there are abnormally leaky vessles, but may be small and difficult to see
- NaFL may be important to find the vessels
16
Q
Differentials for coats
A
- PHPV
- ROP
- toxocariasis
- leukemia
- RB
- endophthalmitis
17
Q
DiffDx coats: what’s unique to coats
A
Yellow pupil reflex and no calcium is seen (Ca seen on ultrasound in RB and there is a white pupil)
Exudative RD and subretinal fibrosis is present in progressive disease
Cryotherapy or photocoagulation for the anomalous vessles
Poor prognosis if fovea is “off”
18
Q
DM 1 retinal manifestations
A
- retinopathy rare if onset is less than 5 years
- proliferative retinopathy rare in kids
- microaneurysms are seen first
- thin retinal hemes, CWS, heard exudates and intraretinal microvascualr abnormalities
- myopia can develop from high blood glucose-this takes weeks to stabilize
- cataracts can occur as PSC
- yearly retinal evaluation (some authorities wait until 5 years after diagnosis)
19
Q
Albinism
A
- abnormalities in the synthesis of melanin in the skin and eyes (oculocutaneous albinism) or eye alone (ocular albinism)
- iris transillumination, fovea hypoplasia, absent retinal pigment
- nystagmus (due to fovea hypoplasia), photophobia, high refractive errors, variable VA
- possible poor BV and strab
- OA has decreased pigment in eyes and not skin
- albinism can be part of a broader syndrome
20
Q
Fovea hypoplasia and albinism
A
-decreased acuity from fovea hypoplasia. Not the very little fovea depression on the OCT
21
Q
Pediatric choroidal and retinal tumors
A
- pigmented fundus lesions are usually benign
- flat choroidal nevus are common and not a problem
- malignant melanomas are rare in kids
22
Q
CHRPE
A
- flat, demarcated, hyperpigmented lesion
- homogenous color wtih well defined margins
- areas of hyperpigmentation and lacunae or loss of RPE pigmentation
- isolated or multifocal
- can be grouped forming bear tracks
23
Q
Sturge Weber syndrome
A
- facial cutaneous vascular malformation and dilation (port wine stain)
- present at birth
- dilated caps seen at the forehead and upper lid
- hypertrophy of soft tissue and bone under that lesion is common
- intracranial vascular anomalies are also seen
- cerebral calcification at occipital lobe
- seizures
- variable cognitive abilities, LD
- not all kids with the stain have sturge-Weber
- any part of the ocular circulation can be affected
- there can be tortuous vessels and AV communications
- choroidal hemangioma are present
- secondary glaucoma is common because of elevated EVO, hypersecretion of aqueous and anomalous angles
- invovlemtn of the upper eyelid hemangioma and itis heterochromia increase the likelihood of glaucoma
24
Q
Managment of sturge Weber
A
- needs comprehensive evaluation-IOP, retina, nerves
- also present: buphthalmos, deep red color of the retina of affected eye, enlarged cornea
- SW secondary glaucoma is difficult to treat-topical agents can be used, but surgery will be indicated
- goniotomy or trabeculotomy (angle incisions) are promising
- laser can be used for the skin lesion
25
Q
NF
A
- NF 1 common
- AD with 100% penetrence, some are also sporadic cases
- melanocytic lesions on the skin and in the eyes by adulthood
- cafe-au-lait spots are flat, hyperpigmented macules of different sizes and shapes anywhere on the body
- a few spots are present at birth but increasing with age
- Lisch nodules are small iris lesion that can start to develop at about 5 years old
- by adulthood, there are dozens of these nodules
- vision or eye health is not affected by these nodules
- choroidal lesions are also possible in NF 1
26
Q
Glial lesions and NF
A
Can occur as
- nodular neurofibromas (hundreds of these)
- optic pathway gliomas
- plexiform neurofibromas (commonly upper lid, ptosis is present and ipsilateral glaucoma can also be seen)
27
Q
Optic pathway gliomas in NF
A
- can involve optic nerve and/or chiasm
- symptomatic causing proptosis, vision loss
- MRI for diagnosis
- NF 1 is diagnosed by clinical findgins (2 or more of the 7 criteria have to be met) or genetic testing
- Imaging can be done to RO optic glioma
- yearly evaluation-imaging if there is a change in vision, pupils or optic nerve
28
Q
NF 2
A
- less common
- AD-abnormalities of NF2 gene
- prestn as teens or young adults
- patients present with symptoms related to CN 8 tumor (decreased hearing)
- clinically diagnosed by CN 8 tumors (acoustic neuromas)
- other CNS invovlemt seems include neurofibromas, meningioma, gliomas
- early onset PSC are more common
- lisch nodules are less common
29
Q
Retinoblastoma
A
- most common malignant intraocular tumor of childhood
- equal in males and female
- no racial predilection
- can be unilateral or bilateral
- almost all diagnosed before the age of 3, after 5 onset is uncommon
- strab is common
- Leukocoria is the first sign
30
Q
RB DiffDx
A
Cataracts ROP PHPV Coats ( NO CA PRESENT IN COATS) Toxocariasis Toxoplasmosis Myelinated NF Coloboma RD
