Trans 004 Acute Non Traumatic Visual Loss Flashcards
❛ Metabolic disorders are generally inherited in ❜
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What fashion
Autosomal recessive
❛ Clinically, enzyme deficiencies produce systemic and opthalmic signs and symptoms by several mechanisms: ❜
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4 mechanisms
❛ 1) Accumulation of undegraded products, 2) Lack of production of an essential substrate, 3) Blockage of the normal conversion of one product to the other, 4) Activation of alternate metabolic pathways unfavorable to cellular integrity. ❜
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lens dislocation is metabolic disease ❛
Homocysteinuria
❛ o
o
o
o
Loss of transparency of the perifoveal retina due to edema or deposition of abnormal material in the ganglion cells
In Tay-Sachs disease, Sandhoff disease, NiemannPick disease Disapperas over time as ganglion cells die and optic atrophy develops ❜
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Cherry red spot
What MPS
❛ o Lacks alpha-L-iduronidase o Severe corneal clouding, +RPE
degeneration, optic nerve head
swelling, optic atrophy, and
o
glaucoma
Claw hand, deafness, joint disease, intellectual disability, low nasal bridge ❜
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❛ Hurler (MPS I) ❜
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What MPs ❛ o Signs and symptoms usually appear after the age of 5 years o Claw-hand deformities, joint stiffness, aortic valve insufficiency, hernias, and deafness o Ocular features: Corneal clouding, Pigmentary retinal degeneration
Glaucoma, ❜
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❛ Scheie (MPS I-s; formerly ops v) ❜
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What MPs ❛ Most patients have severe bone involvement, with little or
no intellectual impairment ❜
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❛ Longer life expectancey than those with Hurler syndrome Arachnoid cysts with spinal rhinorrhea are characteristic feature Cervical corn may be compressed as a result of MPS accumulation ❜
— Page 2 ❛ Ocular manifestations: Progressive corneal clouding, Chronic disc edema, Retinal degeneration, Diminished elecroretinogram
❜
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❛ Hunter-Scheie (MPS IH-s) ❜
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❛ o Lacks iduronate-2-sulfatase o No corneal clouding, optic atrophy, +RPE degeneration o Frontal bossing, coarse facial features, worse over time ❜
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What MPs
❛ Hunter (MPS II) ❜
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What-mps ❛ o Lacks N-acetyl-galactosamine-6sulfatase or B-galactosidase o With corneal clouding, no corneal
o
degeneration
Abnormal spine, bell-shaped chest, knock-knees, short stature ❜
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❛ Morquio (MPS IV) ❜
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❛ o Multiple enzyme deficiency o Hazy cornea, no RPE degeneration o Coarse facial features, short stature, carpal tunnel o Autosomal recessive transmission ❜
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What mucolipidoses
❛ PSEUDO-HURLER POLYDYSTROPHY ❜
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What
Sphingolipidoses ❛ o Lack sphingomyelinase o Cherry-red spot (macular
halo),
Corneal opacification,
Difficulty with up- and down-
gaze,
Nystagmus
o
Loss of motor skills, loss of muscle tone, tremors, enlarged abdomen ❜
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❛ NIEMANN-PICK DISEASE ❜
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Symptoms of what? ❛ a) Enlarged liver and spleen or swellin gin abdomen by around 3 months, which may progress with aage
b) Feeding issues, failure to thrive
c) Frequent respiratory infections
d) Red spot in the eye
e) Irritability ❜
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Niemann-pick disease
What sphingolipidoses ❛ o Lack alpha-galactosidase A – essential in glycosphingolipid catabolism o Corneal verticillata (whorled streaks) and spokelike cataract, Lid edema, Myelinated nerve fiber, Mild
optic atrophy,
opthalmoplegia
Papillidema,
Nystagmus,
Internuclear
o
Bilateral inferior sub capsular lens opacities. ❜
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❛ FABRY DISEASE (ANGIOKERATOMA CORPORIS DIFFUSUM UNIVERSALE) ❜
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What sphingolipidoses ❛ o Acid B-glucosidase o Paralytic strabismus, Looped saccades, Abnormal eye
movement
o
Hepatomegaly, splenomegaly, neuropathies (olfaction, cognition, convulsions) ❜
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❛ GAUCHER DISEASE ❜
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❛ o Lacks hexosaminidase A ❜
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❛ Cherry-red spot, Nystagmus, ❜
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optic atrophy ❛ Mental deterioration, blind, deaf, paralytic ❜
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What sphingolipidoses
Tay-sachs disease
In summary, what are the ocular features in MPs vs mucolipidoses vs sphingolipidoses
MPs ❛ Ocular features
- Corneal clouding
- Retinal pigmentary degeneration
• Optic atrophy ❜
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sphingolipidoss
Mucolipidoses
❛ Ocular features
• Corneal clouding
• Macular cherryred spot ❜
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❛ Characterized by primarily by cirrhosis of the liver, progressive degeneration of CNS and Keyser-Fleischer ring of the cornea
- Hepatolenticular disease
- Accumulation of copper
• Keyser-Fleischer ring ❜
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Wilson’s disease
❛ Occurs in only 15-20% affected Fine deposition between the anterior and posterior lens capsule, forming a disc-like opacity axially, with tapering spokes or metal-like extensions
• Portal hypertension, increased bleeding, neuropsychiatric symptoms (often parkinsonism) ❜
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Sunflower cataract
❛ An inability to metabolize galactose due to deficit in the activity of an enzyme, galactose-I-phosphate uridyl transferase ❜
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❛ Cataract – described as an “oil droplet” cataract, due to accumulation of galactitol in the lens Followed by development of z onular or nuclear cataract ❜
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Galactosemia
❛ Most common form of the glycogen storage disease
- Deficiency of the enzyme glucose-6-phosphatase in the liver, kidney and small intestine
- Characterized by short stature, massive hepatomegaly, hypoglycemia, lactic acidosis and hyperlipiidemia
- Multiple bilaterally symmetrical, yellowish, non-elevated
discrete paramacular lesions ❜
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Von gierke’S disease
❛ • Non-progressive enlargement of the cornea (diameter ≥ 13 mm) (normal diameter: 11mm)
- Rare, usually bilateral, congenital condition
- Usually X-linked but may be autosomal recessive or dominant
• 90% of affected patients are male ❜
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Megalocornea
❛ • A clear cornea with normal thickness
- Diameter < 9 mm in the newborn and < 10 mm after 2 years of age
- Isolated microcornea is very rare
- May be autosomal dominant or recessive
• Others: cataracts, colobomas, high hyperopia, cornea plana, and persistent fetal vasculature ❜
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Micro cornea
❛ Thickening & anterior displacement of the Schwalbe line
• Looks like an irregular white line just concentric with and anterior to the limbus ❜
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❛ On gonioscopy, it is a continuous or broken ridge protruding into the anterior chamber
• Pigmented spots may be seen on the internal surface of the ridge
• Often associated with Axenfeld-Rieger syndrome and Arteriohepatic Dysplasia (Alagille’s syndrome) ❜
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❛ POSTERIOR EMBRYOTOXON ❜
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❛ Rare, bilateral, often autosomal recessive
- Flat corneas, peripheral scleralization of the cornea, and a shallow anterior chamber
- Patients are often hyperopic
- Glaucoma may develop secondary to angle closure due to the shallow anterior chamber
• The curvature of the eyes is very flat ❜
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❛ CORNEA PLANA ❜
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Causes of congenital corneal opacity
Stumped ❛ S - Sclerocornea T - Tears in Descemet membrane (usually due to forceps
trauma or congenital glaucoma) U - Ulcers (infection) M - Metabolic (eg, mucopolysaccharidosis) P - Peters anomaly E - Edema (eg, congenital hereditary endothelial dystrophy
(CHED), posterior polymorphous dystrophy, congenital
hereditary stromal dystrophy (CHSD), glaucoma) D - Dermoid ❜
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❛ Total corneal opacification
- Congenital
- Cornea is opaque and resembles the sclera, making the limbus indistinct
- Severe cases show no increased corneal curvature and no apparent scleral sulcus.
• Often associated with other abnormalities ❜
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❛ SCLEROCORNEA ❜
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❛ Iridocorneal or keratolenticular adhesions
• Posterior corneal defect with an overlying stromal opacity ❜
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❛ Causes can be genetic conditions (eg, Axenfeld-Rieger syndrome) and nongenetic conditions (eg, congenital rubella).
• Unilateral cases are usually isolated whereas Bilateral cases are often associated with systemic disorders and warrant a complete genetic workup
• MLS (microphthalmia with linear skin defects) ❜
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Peters anomaly mas severe Ang type 2
MLS (microphthalmia with linear skin defects) triad
❛ – Microphthalmos
– reddish linear skin lesions
– life- threatening cardiac arrhythmias. ❜
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Peters plus syndrome duo
❛ – bilateral Peters anomaly
– associated with congenital brain defects, heart defects, and craniofacial anomalies ❜
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❛ CONGENITAL (CHED)
HEREDITARY
ENDOTHELIAL
DYSTROPHY ❜
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Hallmark?
Increased corneal thickness
Harboyan’s syndrome
Deatress plus CHED
CHED type 1 vs 2
Type one ❛ Autosomal pericentromeric chromosome
Dominant ❜
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❛ First or second decade of life without nystagmus ❜
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Type 2
❛ Autosomal Recessive ❜
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❛ Presents nystagmus
at
birth
with ❜
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❛ Most common developmental
abnormality of the iris ❜
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❛ PERSISTENT PUPILLARY MEMBRANES ❜
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❛ The typical presentation is an infant with nystagmus who appears to have absent irides or dilated, unresponsive pupils ❜
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❛ Defect in the PAX6 gene on band llpl3 ❜
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❛ ANIRIDIA ❜
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❛ Underdeveloped
stroma and
posterior pigment epithelium of the iris ❜
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Iris coloboma
Typical vs atypical Iris coloboma
❛ Typical iris coloboma o Inferonasal quadrant; explained by failure of the embryonic fissure to close in the fifth week of gestation o Pupil is shaped like a lightbulb, keyhole, or inverted teardrop o May also involve lens, ciliary body, choroid, retina and optic nerve o Isolated colobomatous microophthalmos is inherited in an autosomal dominant trait
• Atypical iris coloboma o occur in areas other than the inferonasal quadrant o not usually associated with posterior uveal colobomas. o probably result from fibrovascular remnants of the anterior hyaloid system and pupillary membrane ❜
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❛ A glassy-smooth cryptless iris surface, a high iris insertion,
dysgenesis of the drainage angle, and glaucoma ❜
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❛ congenital iris ectropion syndrome ❜
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❛ Most common cause of iris (stromal) hypoplasia. ❜
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❛ Axenfeld-Rieger syndrome ❜
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❛ Absence or malformation of the dilator pupillae muscle
- Secondary to contracture of fibrous material on the pupil margin due to remnants of the tunica vasculosa lentis or neural crest cell anomalies
- Unilateral or bilateral / sporadic or hereditary
- Pupil rarely exceeds 2 mm in diameter, is often eccentric
- Reacts poorly to mydriatic drops
• May be associated with microcornea, cataract, megalocornea, iris atrophy, iris transillumination, myopia, glaucoma, congenital rubella syndrome, hereditary ataxia, and Lowe syndrome ❜
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❛ CONGENITAL MIOSIS ❜
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❛ Displacement of the pupil
(situated
approx
0.5mm
inferonasal from the center
of the iris) ❜
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❛ CORECTOPIA ❜
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What glaucoma
❛ • At birth or within the few first years of life
- Due to dysplasia of the anterior chamber angle
- Decreased aqeous outflow
- No other ocular or systemic abnormalities or diseases that can raise IOP)
• Sporadic but may be Recessive ❜
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❛ Primary Congenital /Infantile Glaucoma ❜
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What glaucoma ❛ Associated with other ocular or systemic congenital, inflammatory, neoplastic, hamartomatous or metabolic anomalies ❜
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❛ Secondary Infantile Glaucoma ❜
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❛ Encompasses Primary and Secondary Glaucoma associated with other developmental ocular or developmental ocular or systemic anomalies (inherited or acquired) ❜
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What glaucoma
❛ Developme ntal Glaucoma ❜
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❛ Autosomal dominant may be associated with myopia ❜
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What glaucoma ❛ After 3-5 years of age or in early adulthood (10-30 y/o) ❜
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❛ Juvenile ❜
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❛ (Bull-like eyes) – happens when the disease manifests prior 3 years of age and the eyeball enlarges ❜
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❛ Buphthalmos ❜
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❛ • Corneal enlargement (>12mm) (N 9.5-10.5mm)
- Corneal edema
- Corneal size asymmetry
- Breaks in Descemet’s membrane
- Iris and pupillary abnormalities
- Elevated IOP
- Visual impairment- Myopia/astigmatism
- Optic Nerve Cupping
• Haab’s striae - a result of corneal stretching horizontally or concentric to the limbus ❜
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Buphthalmos
These are Sam?
❛ PRIMARY CONGENITAL GLAUCOMA (Infantile Glaucoma) ❜
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❛ Affects pre-term infants exposed to high ambient oxygen concentrations
- 8 months of gestation - retinal vessels reach the nasal periphery of retina
- 1 month after delivery - reach the temporal periphery
- Incompletely vascularized temporal retina - susceptible to oxygen damage
• The premature retina is underdevelop and they don’t reach the very far periphery of the retina, absence of vessel in periphery. Immature vessels that try to correct the defect. ❜
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Retinopathy of prematurity aka proliterative retinopathy
ROP zones 1,2,3
❛ Location - 3 zones centered on the optic disc
- Zone 1 - bounded by the imaginary circle whose radius is twice the distance from the disc to the macula
- Zone 3 - residual temporal crescent anterior to zone 2
• Zone 2 - extends from the edge of zone 1 to a point tangential to the nasal ora serrata and round to an area near temporal equator ❜
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Screaming guide line ROP
❛ SCREENING GUIDELINES
- All premature babies BW<1500 gms
- All neonates < 32 weeks
- High risk babies o Exposed to oxygen o Multiple blood transfusion o Sepsis o RIDS o Apnoea o Pnuemonitis
• Neonatalogist, temperature controlled room ❜
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Treatment for ROP
❛ TREATMENT
- Ablation of avascular immature
- retina by either cryotherapy or
- Laser photocoagulation (stage 3)
- Scleral buckling with or without
- Vitrectomy (stage 4, 5)
• Intravitreal Anti-VEGF & triamcinolone ❜
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❛ Degeneration of photoreceptor cells in the retina, starting with the rods and then cones known as Rod-Cone Dystrophy or retinal Dystrophy ❜
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❛ Night Blindness*
- Reduced side vision* or blind spots
- Clumsiness
- Discomfort in dark situations
- Difficulty transitioning from light to dark and dark to light
- Light sensitivity
- There is no cure for RP.
• Vitamin A - found to slightly slow the progression ❜
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❛ RETINITIS PIGMENTOSA ❜
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❛ Aka Fundus flavimaculatus o Most common juvenile macular dystrophy o Autosomal recessive ❜
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❛ STARGARDT DISEASE ❜
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❛ STARGARDT DISEASE ❜
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Triad?
❛ Triad: Macular atrophy, Flecks, Dark choroid ❜
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❛ Patho:
o Mutation in VMD gene in long arm of chr11, encoding protein Bestrophin (transmembrane Chloride channel o Abnormal ion flux → macular Lipofuscin accumulation
• SSX:
o Yolk-like/ Vitelliform macular lesions o Mottled geographic atrophy o Good vision throughout the course o CNV ❜
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❛ BEST DISEASE/ BEST VITELLIFORM DYSTROPHY ❜
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❛ most common primary intraocular tumor ❜
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❛ Tumour of primitive photoreceptors cells ❜
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❛ Retinoblastoma (or optic nerve glioma) ❜
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❛ most common primary pediatric orbotal malignancy ❜
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❛ Rhabdomyosarcoma ❜
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❛ Conjunctivitis during the
neonatal period ❜
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❛ Opthalmia neonatorium ❜
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Causes of ophthalmia neonatorium
❛ Causes:
o Gonococcal (2-4 days) o S. haemophilus spp (4-5 days) o H. simplex (5-7 days) o Chlamydia (5-14 days) o Chemical i.e. Silver nitrate (within 24h) ❜ — Page 11
