Vitreous And Retinal Abnormalities In Kids Flashcards
Down syndrome (trisomy 21)-ocular and facial features
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
Craniosynostosis
- 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
Associated syndromes of craniosynostosis
- crouzon syndrome
- apert syndrome
Crouzon syndrome
Forehead retrusion, inferior scleral show, proptosis, beaklike nose, hydrocephalus
Apert syndrome
Similar to crouzon with tower skull, depression of nasal bridge, trapezoid shaped mouth, BUT also fused digitis of hands and feet, widerset eyes
Ocular complications of craniosynostosis
- 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
Craniosynostosis managment
- 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
Goldenhar syndrome
- 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
Treacher Collins syndrome
- 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
Fetal alcohol syndrome
- 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
Hemangioma
- 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
Hemangioma Dx
- by clinical presentation
- by MRI or ultrasound to determine extent, especially if preseptal, or postseptal
Treatment of hemangioma
- 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
Dermoid
- 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
Coats disease
- 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
Differentials for coats
- PHPV
- ROP
- toxocariasis
- leukemia
- RB
- endophthalmitis
DiffDx coats: what’s unique to coats
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”
DM 1 retinal manifestations
- 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)
Albinism
- 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
Fovea hypoplasia and albinism
-decreased acuity from fovea hypoplasia. Not the very little fovea depression on the OCT
Pediatric choroidal and retinal tumors
- pigmented fundus lesions are usually benign
- flat choroidal nevus are common and not a problem
- malignant melanomas are rare in kids
CHRPE
- 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
Sturge Weber syndrome
- 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
Managment of sturge Weber
- 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
NF
- 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
Glial lesions and NF
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)
Optic pathway gliomas in NF
- 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
NF 2
- 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
Retinoblastoma
- 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
RB DiffDx
Cataracts ROP PHPV Coats ( NO CA PRESENT IN COATS) Toxocariasis Toxoplasmosis Myelinated NF Coloboma RD
RB Dx
Based on appearance
endophytic growth
- breaks through the ILM into the vitreous cavity
- could have vitreous seeding and look like endophthalmitis (if extensive)
- malignant cells can enter the AC (forming pseudohypopyon)
Exophytic growth of RB
- grows into the subretinal space
- overlying vessels are larger with more tortuosity
- accumulated sub retinal fluid can obscure the tumor
- mimics the appearance of an RD from advanced coats
- RB cells can implant in unaffected retina
Large tumor growth with RB
Signs of both endophyic and exophytic
Diffuse infiltrative RB
- unilateral
- nonhereditary
- in kids older than 5
- conjunctival injection, AC seeds, large clumps of vitreous cells
Managment of RB
- need imaging of the head and orbit-to determine extend of disease
- MRI and ultrasound
- 60% of cases arise from sporadic nonhereditary mutation
- enucleation if prognosis for vision is very poor
- systemic chemo and local chemo (cryotherapy, laser photocoagulation, thermotherapy)
- can disappear after treatment or can appear like a flat atropine scar
- monitor patients for development of new tumors (systemic or ocular)
Hereditary retinal diseases
- nystagmus is the msot common sign (not present in all cases)
- if present before 3 months of life, it indicates poorer visual potential
- testing in hereditary retinal diseases include (difficulty in chidlren): ERG, EOG, colro vision, VF testing
Lever congential amaurosis
- AR disease affecting both rods and cones
- severe vision loss, nystagmus, poor pupil reaction, poor ERG
- vision ranges from 20/200 to light perception
- variable fundus presentation-normal appearance (in infancy) to pigment clumping, bone spicules, arteriole attenuation, disc pallor
- some chorioretinal atrophy
- cataracts and higher refractive error are possible
- ERG required for Dx
- genetic testing and counseling
- no current treatments, clinical trials in progress
Achromatopsia
- complete achromatopsia is AR
- no color vision, poor central vision, nystagmus, photophobia (bright light)
- see has shades of gray
- have difficulty seeing in bright lights
- poor or absent fovea reflex, otherwise normal retina
- abnormal ERG
- variable VA (VA better in incomplete achromatopsia)
FOV was hypoplasia
- incomplete development of the fovea
- nystagmus is present in infancy
- assocaited with albinism or aniridia
- isolated or related to gene abnormalities
- fovea reflex is absent or poor
- hypoplasia varies
- retinal eval shows hypoplasia
- can do OCT
- no treatment
Stargardts disease
- juvenile macular degeneration
- most common hereditary macualr dystrophy
- AR
- presents between 8 and 15 with decrease in vision
- bilateral, symmetric, progressive
- vision ranges from 20/50 to 20/200
- has a “Dark choroid” on FA. Helpful in Dx
- progresses in stages
- no treatment yet, clinical trials in progress
- low vision referrals
Stargardts stages
- initially fundus appears normal, with decreased vision
- loss of fovea reflex
- development of macular bulls eye atrophy, surrounded by yellow flecks
Best disease
- AD hereditary macualr dystrophy, due to a gene mutation
- asymptomatic in childhood
- between 4 and 10 vitelliform (egg yolk like yellow cyst) starts to develop in the macula
- 1.5-5mm in diameter, could be multiple lesions
- with time, the lesion could have a scrambled egg appearance
- VA remains good (about 20/30)
- the cyst could rupture
- pseudohypopyon can form from the cyst contents
- subretinal neo and serous detahcment can occur
- subretinal hemes can also develop
- VA can deteriorate with complications
- EOG abnormal in best patients, BUT ERG is normal
- treatment only indicated for any subretinal neo
Stickler syndrome
- common hereditary vitreoretinappthy
- presents in kids
- vitreous liquefaction leading to an optically empty vitreous cavity
- diagnosis by clinical presentation and genetic testing
- RD common NPC of retinal breaks
Ocular manifestations of stickler
High myopia Lattice degeneration Cataracts Ptosis Proliferative vitreoretinopathy
Systemic problems with stickerlers
Flat midface, hearing loss, cleft palate, mitral valve prolapse
Retinal detachment repair
Hard to repair because of other large retinal breaks
FEVR
- AD (type 1) or X linked (type 2)
- abnormal retinal vascularitztion simian to ROP
- retinal traction, retinal folds, retinal breaks, detachments from vitreous traction
- peripheral intraretinal and subretinal exudates
- OU, mimics ROP, but this affected full term infants
- examine family members
- photocoagualtion, RD surgery, vitrectomy, cat surgery
ROP
- abnormal retinal vasculature development in premature infants
- especially after high doses of supplemental oxygen
- described by stage of the disease, zones, and the location on the retina
- the higher the stage and the lower the zone, the worse the ROP
Zone 1: ROP
Inner zone with post pole, diameter of 60 degrees, twice the disc to macula distance
Zone 2: ROP
From edge of zone 1 to nasal ora, around to area near temporal equator
Zone 3: ROP
Remaining temporal crescent around zone 2
Stage 0: ROP
No ROP
Stage 1 ROP
Demarcation line with no height
Stage 2 ROP
Ridge with or without tufts of fibrovascular proliferation (has height and width)
Stage 3 ROP
Exrtraretinal fibrovascular proliferation along the ridge
Stage 4 ROP
Dragging of vessels with subtotal traction RD
Stage 5 ROP
Total RD (funnel)
ROP plus disease
Vascular sheathing causing vascular engorgement in the posterior pole with tortuous arteries, dilated veins, vitreous can be haze
Strongest risk factor for ROP
Gestational age and birth weight
Smaller babies and those born at an earlier gestation age are at higher risk
Managment of ROP
Dilated fundus eval should be done on infants born at 30 weeks or earlier or had a birth weight less than 1500g
-cyclomydril is used for premature babies
Treatment for ROP
Prompt treatment
- cryotherapy to avascular/immature peripheral retina
- laser photocoagulation
- scleral buckle and vitrectomy in more severe cases
DiffDx for ROP
Coats
FEVR
PHPV
Leukocoria
Complications of ROP
- high myopia
- amblyopia
- strab
- dragging of the macula (Causnig pseudostrab, XT with larger angle kappa)
- cataracts
- keratoconnus
- Phthisis bulbi
- blindness
Anterior segment abnormalities assocaited with nystagmus
Congenital cataracts
Congenital glaucoma
Iridocorneal dysgenesis
Primary sensory retinal abnormalities assocaited with nystagmus
LHON
achromatopsia
CSNB
Vitreouretinal abnormalitis assocaited with nystagmus
Coloboma involving the macula
FEVR
Retinal dysplasia
RB
Fovea hypoplasia and nystagmus
Albinism
Aniridia
Isolated
Optic nerve disorders associated with nystagmus
ONH hypoplasia
ONH coloboma
Optic atrophy
Infectious diseases associated with nystagmus
Congenital toxoplasmosis
CMV
Rubella
Syphilis
Contour (local) stereopsis
- usually laterally displaced targets with monocular clues (patients can guess)
- contour stereo is better at detecting peripheral stereopsis (>60s of arc)
- wirt circles, Titmus fly, animals
Global (random dot) stereo
- uses random dot targets that have NO monocular clues
- the patient must have bifoveal fixation to detect shapes within random dot targets
- targets are good for detecting a constant strabismus
Stereopsis can also be evaluated uses
Anaglyphs and Polaroid targets
Expected results on stereo
20s of arc with contour testing and appreciate of gross random dot targets
Horror fusionis
A patient is unable to obtain fusion even with the use of prism. As the images are brought closer together with prism, they eventually jump over each other rather than fusing
Infantile ET (congenital ET)
-characterized by a large angle (40-60 PD) that occurs prior to 6 months and is usually idiopathic
Acquired ET
- 3 types that occur after 6 months
- accommodative ET: due to accommodation and either a high amount of uncorrected hyperopia and/or a high AC/A. Treatment may include corrective lenses, prism, VT, and/or surgery
- acute ET: sudden onset ET due to neurological problem or decompensated phoria
- mechanical ET: secondary to a physical restriction of an EOM (Duane type 1)
