28 - Ocular Manifestations of Systemic Disease Flashcards

1
Q

Les 2 atteintes rétiniennes les plus fréquentes retrouvées chez les pts atteints de NF2 ?

A

80 % ont une membrane épirétinienne ou un hamartome de la rétine + RPE

La trouvaille oculaire la plus caractéristique chez ses patients reste la cataracte sous-capsulaire postérieure / cataracte corticale wedge-shaped

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2
Q

Autre nom de la neurofibromatose type 1

A

Von Recklinghausen disease

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3
Q

Autre terme pour dire sclérose tubéreuse

A

Bourneville disease

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4
Q

Autre terme pour dire Von Hippel-Lindau disease

A

Retinal angiomatosis

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5
Q

Caractéristiques des taches café-au-lait

A
  • The most common cutaneous expression of NF1
  • Are uniformly hyperpigmented macules of varying size
  • Some are usually present at birth; the number and size increase during the first decade of life
  • Unaffected individuals may have 1–3 café-au-lait spots, but greater numbers are rare except in association with NF1.
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6
Q

CNS and Other Systemic Features de la NF1

A
  • Dysplasie du sphénoïde
  • Other tumors: leucémie, rhabdomyosarcome, phéochromocytome, Wilms
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7
Q

CNS and Other Systemic Features de la NF2

A
  • Acoustic neuromas
  • Spinal cord tumors
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8
Q

CNS and Other Systemic Features de la sclérose tubéreuse

A
  • Seizures
  • Cognitive impairment
  • Renal cell carcinoma
  • Cardiac rhabdomyosarcoma
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9
Q

CNS and Other Systemic Features du Von Hippel-Lindau

A
  • Hemangioblastoma
  • Renal cell carcinoma
  • Pheochromocytoma
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10
Q

Complication oculaire la plus commune et la plus sérieuse dans le syndrome de Sturge Weber

A

Glaucome
* Prévalence : 70%
* Facteurs associés : atteinte de la paupière supérieure, hémangiome choroïdien, hétérochromie de l’iris, hémangiome épisclérale

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11
Q

Complication à rechercher en présence de NF1 et d’un neurofibrome plexiforme ?

A

Glaucome dans l’oeil ipsilatérale (50% de prévalence en présence de neurofibrome plexiforme)

NF1 à considérer chez tous les enfants avec glaucome unilat

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12
Q

Critères diagnostiques clinique de la NF2 ?

A
  • Névromes de l’acoustique bilatéral (NC VIII)
  • Ou ATCDF 1er degré + : névrome de l’acoustique unilat vs neurofibrome vs méningiome vs schwannome vs gliome vs cataracte sous capsulaire postérieure précoce
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13
Q

Cutaneous Features de la NF1

A
  • Café-au-lait spots
  • Neurofibromas
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14
Q

Cutaneous Features de la NF2

A
  • Café-au-lait spots
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15
Q

Cutaneous Features de la sclérose tubéreuse

A
  • Angiofibromas
  • Hypopigmented macules
  • Subungual fibromas
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16
Q

Incidence de la NF1

A

1/3500

New mutations common
Variable expressivity common

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17
Q

Incidence de la NF2

A

1/33 000

New mutations common

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18
Q

Incidence de la sclérose tubéreuse

A

1/10 000

New mutations very common

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19
Q

Incidence du Von Hippel-Lindau

A

1/36 000

High penetrance : benign and malignant tumors

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20
Q

Inheritance Pattern de la NF1

A

AD

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21
Q

Inheritance Pattern de la NF2

A

AD

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22
Q

Inheritance Pattern de la sclérose tubéreuse

A

AD

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23
Q

Inheritance Pattern de Von Hippel-Lindau disease

A

AD

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24
Q

La syndrome d’incontinentia pigmenti mime quelle pathologie fréquente du nouveau-né ?

A
  • Rétinopathie du prématuré
  • Ocular involvement occurs in 35%–77% of cases and tends to be unilateral or very asymmetric if bilateral
  • Vasculopathie rétinienne proliférative avec vascularisation périphérique de la rétine incomplète
  • À la jonction de la rétine vascularisée et non vascularisée on retrouve : connections artérioveineuses AN, AN microvasculaire, membranes néovasculaires
  • Progression qui peut être rapide -> décollement de la rétine +/- membrane rétrolenticulée
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25
Lésion oculaire retrouvée dans le Von Hippel-Lindau ?
Hémangioblastome capillaire de la rétine
26
Lésion typique retrouvée au FO chez les patients atteints du syndrome Wyburn-Mason ? Complications?
* Vaisseaux dilatés et tortueux qui forment un shunt (drainage des artères directement dans les veines) * Vessels do NOT leak fluid * Unilatéral, congénital et progresse durant l'enfance * Complications : Hg, glaucome néovasculaire * Vision : > 50% sont aveugle de l'oeil affecté, 1/4 have severe visual impairment
27
Mutations génétiques dans la sclérose tubéreuse (Bourneville disease)
* Gène supresseur tumoral TSC1 (9q34) * Gène supresseur tumoral TSC2 (16p13.3)
28
Mutation génétique dans le Von Hippel-Lindau disease
Gène suppresseur tumoral VHL (3p26-p25)
29
Mutation génétique de la neurofibromatose 1
Mutation in the tumor suppressor gene NF1, located on chromosome 17q11.2
30
Mutation génétique de la neurofibromatose 2
Gène supresseur tumoral NF2 sur le chromosome 22q12
31
Ocular Feature de la sclérose tubéreuse
Retinal astrocytic hamartomas
32
Ocular Feature du Von Hippel-Lindau
Retinal capillary hemangioblastoma
33
Ocular Features de la NF1
* Eyelid neurofibroma * Glaucoma * Lisch nodules * Optic pathway glioma
34
Ocular Features de la NF2
* Cataract * Retinal combined hamartoma * Epiretinal membrane
35
Quels sont les 2 types (grandes catégories) de lésions caractéristiques de la NF1 ?
* Lésions mélanocytiques : café-au-lait, nodules de Lisch, lésions choroïdiennes * Lésions neurogliales : neurofibromes nodulaires cutanés et sous-cutanés, fibrome molluscum, neurofibromes plexiformes, gliomes des voies optiques
36
Triade de Vogt? Et pathologie associée à celle-ci?
Triade de trouvailles cliniques chez les patients atteints de sclérose tubéreuse : * Atteinte cognitive * Convulsions * Angiofibromes faciaux
37
Trouvaille oculaire la plus fréquente chez les patients atteints de sclérose tubéreuse ?
Phakome rétinien/hamartome astrocytaire (30-50%, 40% bilat) * Plus souvent près du pôle postérieur (involve rétine et/ou NO) * Affecte rarement la vision * Croissance a/n innermost layer de la rétine (RNFL, ¢ gliales indifférenciées)
38
Anomalie oculaire motrice la plus commune dans le syndrome de Louis-Bar ? Est-ce qu'elle survient de manière précoce ou tardive ?
= Ataxia-Telangiectasia Poor initiation of saccades with preservation of vestibular-ocular movements is common and early onset
39
Caractéristiques des télangiectasies de la conjonctive dans le syndrome d'ataxie-télangiectasie ?
Se développe entre 3-5 ans Initialement interpalpébrale (zone exposée au soleil) et éloigné du limbe, puis progresse pour être généralisé
40
Inheritance pattern Louis-Bar syndrome and gene/chromosome location ?
AR ATM (11q22.3)
41
Quelle est la conséquence d'une mutation homozygote chez le foetus masculin avec une mutation pour le syndrome d'incontinentia pigmenti ?
C'est un syndrome dominant lié à l'X donc RIP il meurt
42
Vrai ou faux : l'atteinte oculaire chez les patients atteints du syndrome d'incontinentia pigmentai/syndrome Bloch-Sulzberger est souvent bilatérale et symétrique
Faux : souvent unilatéral et si atteinte bilatérale = très asymétrique
43
Quelle est la complication qu'on redoute chez les enfants atteints de la rétinopathie associée au syndrome d'incontinentia pigmenti ?
Rapid progression sometimes leads to total retinal detachment and retrolental membrane formation within the first few months of life Later in life, secondary to end-stage retinopathy : microphthalmia, cataract, glaucoma, optic atrophy, strabismus, and nystagmus
44
Describe the typical lesion in Wyburn-Mason syndrome
Angioma of the retina : unilateral markedly dilated and tortuous vessels that shunt blood directly from arteries to veins. These vessels do not leak and are congenital but can progress during childhood.
45
Vrai ou faux : > 50% des pts atteint du syndrome de Wyburn-Mason avec manifestation oculaire sont aveugles
Vrai > 50% des yeux affectés sont aveugles et 25% ont une AV sévèrement diminuée
46
Vrai ou faux : on traite les lésions rétiniennes associées au syndrome de Wyburn Mason avec du laser
Faux No treatment is indicated for primary lesions -> treatment considered for associated complications, such as scatter photocoagulation for ischemic venous occlusive disease, vitrectomy for nonclearing vitreous hemorrhage, and cyclodestructive treatment for neovascular glaucoma.
47
Typical gene associated with ocular albinism
GPR143
48
3 major ophthalmic findings in all types of albinism (OCA and OA)
- Iris transillumination from decreased pigmentation (« pink eye ») - Foveal aplasia or hypoplasia - Deficit of pigment in the retina, especially peripheral to the posterior pole
49
True or false : there are more uncrossed nerve fibers in patient with ocular albinism. Angle Kappa? Stéréopsis? VEP?
False : there are fewer uncrossed nerve fibers (majority = controlat), resulting in asymmetric VEP, strabismus, lack of stereopsis, wider angle kappa
50
Syndrome à rechercher dans le cas d'un albinisme oculaire avec fibrose interstitielle pulmonaire et atcd de saignement abondant ?
Hermansky- Pudlak syndrome
51
Syndrome à rechercher dans le cas d'un albinisme oculaire avec atcd de multiples infections bactériennes, principalement à Staph ?
Chédiak-Higashi syndrome
52
Les NF2 peuvent-ils avoir des nodules de Lisch?
Oui. Lisch nodules of the iris can occur in NF2 but are **infrequent**.
53
Principaux organes impliqués dans la sclérose tubéreuse
* Skin * Brain * Heart * Kidney * Eyes
54
À quelle maladie sont associés des ash-leaf-spots (chez les jeunes enfants)?
Sclérose tubéreuse. The facial angiofibromas are not usually present in young children, but **hypomelanotic macules** (“ash- leaf spots”) are.
55
Apparences des phakomes rétiniennes (3) Phakomes rétiniens = hamartomes rétiniens
The **first** type is * Typically found in very young children * Relatively flat with a smooth surface * Indistinct margins * Gray- white color that makes them difficult to detect. The **second** type is * a sharply demarcated, elevated, yellow-white, calcified lesion * With an irregular surface that has been compared to that of a mulberry. * More often found in older patients, on or adjacent to the optic disc. The **third** type is * A transitional lesion that combines features of the first 2.
56
% de patients avec ST ayant un/des phakome(s)
* Phakomas are present in **30%–50%** of patients with TS. * One to several phakomas may be found in a single eye, and **40%** of cases are **bilateral**. * There is no evidence that the number of lesions increases with age, but individual tumors have been documented to grow over time.
57
V ou F. Les phakomes rétiniens sont pathagnomoniques de la sclérose tubéreuse
Phakomas are **NOT pathognomonic** of TS; they occur occasionally in association with neurofibromatosis and in the eyes of unaffected persons.
58
Dans quelle mutation génétique de la sclérose tubéreuse, les lésions rétiniennes sont plus communes?
Retinal lesions are more common in individuals with mutations in the **TSC2** gene.
59
Manifestations extraoculaires de la sclérose tubéreuse
* **Ash-leaf spot** * **Adénome sébacé** : facial angiofibromas, 3/4 des patients, can be mistaken for acne, onset during childhood * **Fibrome sous-unguéal** * **Shagreen patch** : typically located in lumbosacral area, onset after puberty * **Seizures** : periventricular or basal ganglia calcifications (= benign astrocytomas), tuberous malformations of the cortex, atteinte cognitive chez 50% * **Cardiac rhabdomyomas** * **Bone and kidney lesions**
60
À quel âge les hémangioblastomes capillaires rétiniens deviennent-ils visibles à l'e/o? (Von Hippel– Lindau disease)
These lesions usually become visible ophthalmoscopically between ages **10 and 35 years**, with an average age at onset of **25 years**.
61
% de pts avec mutation VHL qui ont des hémangioblastomes capillaires rétiniens? (Von Hippel– Lindau disease)
Retinal capillary hemangioblastomas are found in up to **85%** of patients with the VHL mutation.
62
% de pts présentant multiples hémangioblastomes capillaires rétiniens/multiples tumors (Von Hippel– Lindau disease)
Multiple tumors are present * In the same eye in about **one- third** of cases * Bilaterally in as many as **one- half** of cases.
63
Localisation typique des hémangioblastomes capillaires rétiniens (Von Hippel– Lindau disease)
Tumors typically occur in the **peripheral fundus**, but lesions adjacent to the optic disc have been described.
64
The hallmark of the mature tumor in Von Hippel– Lindau disease (hémangioblastome capillaire rétinien)
The hallmark of the mature tumor is **a pair of markedly dilated vessels (artery and vein) running between the lesion and the optic disc**, indicating significant arteriovenous shunting. *Characteristic paired or twin retinal vessels of normal caliber may be present before the tumor becomes visible.*
65
Caractérisque des capillaires d'un hémangioblastome capillaire rétinien à l'angiographie à la fluorescéine (Von Hippel– Lindau disease)
Histologically, retinal capillary hemangioblastomas consist of relatively well- formed capillaries; however, fluorescein angiography shows that these **vessels are leaky**. Transudation of fluid into the subretinal space causes lipid accumulation, retinal detachment, and consequent vision loss.
66
Tx des hémangioblastomes capillaires rétiniens (Von Hippel– Lindau disease)
* Retinal capillary hemangioblastomas can be effectively treated with **cryotherapy** or **laser photocoagulation** in two- thirds of cases or more, particularly when the lesions are still small. * **Antiangiogenic therapy** has also shown potential. * **Early diagnosis** increases the likelihood of successful treatment.
67
Qui devrait avoir un screening pour les hémangioblastomes capillaires rétiniens/Von Hippel– Lindau disease? Et quand?
* Early diagnosis increases the likelihood of successful treatment. * The ocular lesions of VHL are asymptomatic prior to retinal detachment. * Therefore, children at risk for the disease should undergo **periodic ophthalmologic evaluation beginning at approximately age 5 years**. * Early diagnosis of systemic tumors can significantly reduce morbidity and mortality. * **Molecular genetic** testing has been suggested for patients with early- onset (<30 years) cerebellar hemangioblastoma, early- onset retinal capillary hemangioblastoma, or familial clear cell renal carcinoma.
68
Manifestations extraoculaires dans le Von Hippel– Lindau disease
* Brain hemangioblastomas * Cysts and tumors (kidneys, pancreas, liver, epididymis, phéochromocytome) * Rare skin lesions (café-au-lait spots, port-wine stains) * Shagreen patch * Seizures * Cardiac rhabdomyomas * Bone and kidney lesions
69
Malformations du Sturge- Weber syndrome
Sturge- Weber syndrome (SWS; encephalofacial angiomatosis) consists of * A **facial cutaneous vascular malformation** (port- wine stain) * With **ipsilateral leptomeningeal vascular malformation**
70
V ou F. Any portion of the ocular circulation may be anomalous in Sturge- Weber syndrome.
Vrai
71
Anomalie rétinienne la plus fréquente associée au Sturge- Weber syndrome
**Choroidal hemangioma** is the most significant retinal anomaly associated with SWS. * The tumor is composed of well- formed choroidal vessels, which give the fundus a uniform deep- red color that has been compared to that of **tomato ketchup** * Sometimes only the posterior pole is involved; in other cases, the entire fundus is affected. * Choroidal hemangiomas are usually **asymptomatic in childhood**. * During adolescence or adulthood, the choroid sometimes becomes markedly thickened. **Degeneration or detachment** of the overlying retina may follow. * No treatment has been proven to prevent or reverse such deterioration, but scattered application of laser photocoagulation may help.
72
% de pts avec un Sturge- Weber syndrome qui ont du glaucome
70%
73
FdR augmentant risque de glaucome chez pts avec Sturge-Weber syndrome
* Involvement of the skin of the upper eyelid * Choroidal hemangioma * Iris heterochromia * Episcleral hemangioma
74
Onset du glaucome chez pts avec Sturge-Weber syndrome
Onset of glaucoma can be at **birth or later in childhood**.
75
V ou F. SWS glaucoma is easy to treat.
SWS glaucoma is **difficult** to treat.
76
Principaux systèmes impliqués dans le Louis- Bar Syndrome (Ataxia- telangiectasia)
* Cerebellum * Ocular surface * Skin * Immune system
77
Manifestations extraoculaires du Louis- Bar Syndrome (Ataxia- telangiectasia)
78
V ou F. Ocular motor abnormalities are found in many patients with AT (ataxia- telangiectasia) and are frequently among the latest manifestations.
Faux. Ocular motor abnormalities are found in many patients with AT and are frequently among the **earliest** manifestations.
79
Manifestations oculaires du Louis- Bar Syndrome (ataxia- telangiectasia)
* **Poor initiation of saccades** (with preservation of vestibular- ocular movements) * **Strabismus and nystagmus** may be present * **Telangiectasia of the conjunctiva** occurs in 91% of patients and develops between the ages of 3 and 5 years. * Similar vessel changes can appear in the skin of the **eyelids** and other sun- exposed areas.
80
Systèmes impliqués dans le Incontinentia pigmenti
Incontinentia pigmenti affects the * Skin * Brain * Eyes
81
Manifestations extraoculaires de l'incontinentia pigmenti
82
Manifestations oculaires de l'incontinentia pigmenti
* **Proliferative retinal vasculopathy**: At birth = only incomplete peripheral retinal vascularization * Microphthalmia * Cataract * Glaucoma * Optic atrophy * Strabismus * Nystagmus
83
Screening et Tx de l'incontinentia pigmenti
* Sequential retinal evaluations for the **first 1–2 years of life** are necessary to identify eyes that require treatment. * The retinopathy of IP has been managed by **photocoagulation** or **cryotherapy** with varying degrees of success. * Treatment is usually **applied primarily to the avascular peripheral retina** (as in the management of retinopathy of prematurity)
84
Systèmes impliqués dans le Wyburn-Mason Syndrome? Manifestations extraoculaires? Maladie héréditaire ou non?
Wyburn- Mason syndrome (racemose angioma) is a nonhereditary arteriovenous malformation of the eye and brain.
85
Caractéristique du Klippel-Trénaunay Syndrome
* Vascular nevus involving an extremity * Varicosities of that extremity * Hypertrophy of bone and soft tissue
86
Klippel-Trénaunay Syndrome versus Klippel-Trénaunay-Weber Syndrome
When **arteriovenous malformation** is also present, the disease is called Klippel- Trénaunay- **Weber** syndrome.
87
Manisfestations oculaires du Klippel-Trénaunay Syndrome
* Ophthalmic findings include **vascular anomalies** of the orbit, iris, retina, choroid, and optic nerve, as well as **optic nerve and chiasmal gliomas**. * There is also a risk of **glaucoma**.
88
Traitement du Klippel-Trénaunay Syndrome (KTS)
* KTS is a complex syndrome with no single treatment protocol. * Treatment is individualized to the patient. * At present, many of the symptoms may be treated, but there is no cure for this syndrome.
89
Inheritance Pattern du Sturge-Weber syndrome
Somatic mosaicism (mosaïcisme somatique) *Le mosaïcisme est la conséquence d'une mutation apparue après la fécondation et transmise aux cellules issues des divisions de la cellule d'origine.*
90
Inheritance Pattern du Louis-Bar syndrome
AR
91
Inheritance Pattern de l'Incontinentia pigmenti
X-linked dominant
92
Inheritance Pattern du Wyburn-Mason syndrome
Nonhereditary, Sporadic
93
Inheritance Pattern du Klippel-Trénaunay-Weber syndrome
Nonhereditary, Sporadic
94
Signes cliniques d'un hémangioblastome capillaire rétinien (e/o, AF et OCT)?
Retinal capillary hemangioblastoma : * **Dilated, tortuous vessels** leading to and away of the **vascular tumor** * FA : typically shows **early leakage** and marked **hyperfluorescence**. * **Macular edema** associated with these lesions may also be detected by means of OCT
95
À quelle phacomatose cette trouvaille est-elle associée?
Von Hippel-Lindau (Hémangioblastome capillaire rétinien)
96
Phacomatose associée à un gliome du optic pathway?
NF1
97
À quelle phacomatose cette trouvaille est-elle associée?
NF2 (Combined hamartoma of retina and RPE)
98
Comment nomme-t-on cette trouvaille à l'e/o?
Adenoma sebaceum = Facial angiofibromas * Not usually present in young children with NF2
99
Comment nomme-t-on cette trouvaille à l'e/p?
Ash-leaf spot = hypomelanotic macule * Present in young children with NF2
100
Synonyme de Retinal phakoma
Retinal phakoma, frequently termed astrocytic hamartoma
101
Couche de la rétine impliquée/atteinte dans un hamartome astrocytaire?
Astrocytic hamartoma = tumeur localisée a/n du RNFL
102
Phacomatose associée à cette trouvaille?
Ataxia- telangiectasia = Louis- Bar Syndrome
103
Manifestations oculaires associées au Louis-Bar Syndrome (Ataxia-Telangiectasia)
Manifestations oculaires = parmi les premières manifestations * Poor initiation of saccades + preservation of vestibular-ocular mvts → compensation saccades en faisant des hea thruts * Strabisme * Nystagmus * Télangiectasies de la conjonctive
104
# (Toxoplasmose) Qu'est-ce que le Toxoplasmose gondii?
Parasite protozoaire intracellulaire obligatoire
105
# (Toxoplasmose) Parasite impliqué dans l'infx à toxoplasmose?
Toxoplasmose gondii
106
# (Toxoplasmose) Incidence de la toxoplasmose congénitale?
The incidence of congenital toxoplasmosis ranges from 1 to 10 per 10,000 live births.
107
# (Toxoplasmose) Facteurs influençant le % de antibody titer– positive persons aux USA?
The percentage of antibody titer– positive persons in the United States depends upon **geographic location** and **increases with age**.
108
# (Toxoplasmose) Qui sont des hôtes définitifs de la Toxoplasmose?
Les félins (Felines are the definitive host)
109
# (Toxoplasmose) Mode d'acquisition de la Toxoplasmose congénitale?
Toxoplasmosis can be acquired congenitally via **transplacental transmission from an infected mother to the fetus**.
110
# (Toxoplasmose) Manifestations extraoculaires de la toxoplasmose congénitale?
Congenital infection can result in * Retinitis * **Hepatosplenomegaly** * **Intracranial calcifications** * **Microcephaly** * **Developmental delay**
111
Manifestations oculaires de la toxoplasmose congénitale?
Ocular manifestations include * Retinitis * Choroiditis * Iritis * Anterior uveitis The area of **active retinal inflammation** is usually **thickened and cream colored** with an **overlying vitritis**, frequently in the macula.
112
# (Toxoplasmose) À quoi ressemble l'area d'une active retinal inflammation?
The area of **active retinal inflammation** is usually **thickened and cream colored** with an **overlying vitritis**, frequently in the macula. This area may be at the edge of an old, flat, atrophic scar (a so- called satellite lesion).
113
V ou F : le Dx de la toxoplasmose est principalement clinique.
Vrai. Diagnosis is primarily clinical.
114
# (Toxoplasmose) Indications et Tx de la toxoplasmose.
Indication : * Ocular toxoplasmosis does not require treatment unless it **threatens vision**. Tx : * Systemic treatment involves the use of one or more **antimicrobial drugs** +/- oral corticosteroids. * Commonly used antimicrobial agents are **pyrimethamine and sulfadiazine**. * Intravitreal injection of clindamycin and dexamethasone has been reported as a possible alternative treatment.