Rétine et vitrée Flashcards
Hereditary Retinal Disease
Syndromes qui peuvent être associés au Leber congenital amaurosis ?
Peroxisomal disorders :
* Zellweger [cerebrohepatorenal] syndrome
* Neonatal adrenoleukodystrophy
* Infantile Refsum disease
Ciliopathies :
* Alström syndrome
* Joubert syndrome
* Senior-Loken syndrome
* Bardet-Biedl syndrome
Hereditary Retinal Disease
Quelest le gène le plus fréquemment atteint dans le Leber ? Pour quelle mutation existe-t-il une thérapie genique ?
CEP290 (15%)
RPE65 (6%)
* Gene therapy is available for biallelic RPE65 disease
GUCY2D (12%)
CRB1 (10%)
Hereditary Retinal Disease
Quelle est la triade clinique du syndrome d’Aicardi ?
Widespread round or oval depigmented chorioretinal lacunae (88%)
Spasme infantile
Agénésie du corps calleux
Aussi : AN NO chez 81%
Quelle est la triade clinique du syndrome de Knobloch ?
Encéphalocèle occipitale
Myopie sévère
À risque de décollement de la rétine
Quels sont les trouvailles au fond d’oeil des patients atteint d’achromatopsie ?
Findings on retinal examination are usually normal, with the possible exception of a poor or absent foveal reflex
ERG caractéristique de l’achromatopsie ?
Achromatopsia is an autosomal recessive congenital disorder of the cone photoreceptors.
The ERG is subnormal, showing extinguished cone or photopic responses but normal or nearly normal rod responses.
If incomplete : some residual cone function is observed on ERG testing
Blue-cone monochromatism : the blue (short wavelength) cones show normal function on specialized ERG testing, but the photopic response is usually extinguished
Quels sont les trouvailles possible à l’E/P chez un patient atteint du syndrome de Leber ?
Basically = RP plus jeune
Visual acuity typically ranges from 20/200 to bare light perception, but in some patients is not very low.
Ophthalmoscopic appearance varies greatly, depending on the genotype. It ranges from a normal appearance, particularly in infancy; arteriolar narrowing, to pigment clumping in the retinal pigment epithelium (RPE); to resemblance of classic retinitis pigmentosa, with bone spicules, attenuation of arterioles, and disc pallor.
Other reported but less common fundus findings include extensive chorioretinal atrophy, macular coloboma, white dots (similar to those seen in retinitis punctata albescens), and marbleized retinal appearance
High refractive errors, usually high hyperopia, are common.
Trouvaille classique à l’ERG d’un patient atteint de Congenital stationary nightblindness ?
The most common ERG pattern seen in CSNB is the “negative” dark-adapted ERG: a large a-wave and a reduced amplitude (negative) b-wave.
Dark adaptation is abnormal in all patients with CSNB.
*Infants with CSNB may have a flat ERG until approximately 6 months of age, when it converts to the classic negative configuration.
Quelle est la triade du syndrome d’Aicardi ?
Aicardi syndrome is a presumed X linked autosomal dominant disorder characterized by the clinical triad of widespread round or oval depigmented chorioretinal lacunae, infantile spasms, and agenesis of the corpus callosum.
+ AN du NO dans 81 %
Les AN vasculaires de la rétine dans la maladie de Coats sont plus souvent situés dans quelle région ?
Rétine temporale
(Anévrysme, télangiectasies, tortuosité, non perfusion capillaire)
Quelles sont les 2 trouvailles classiques au fond d’oeil dans la maladie de Coats ?
The classic findings in Coats disease are yellow subretinal and intraretinal lipid exudates associated with retinal vascular abnormalities— most often telangiectasia, tortuosity, aneurysmal dilatations, and retinal capillary nonperfusion.
The subretinal exudate is thought to come from the leaking anomalous vessels. Fluorescein angiography may be helpful in identifying leakage from the telangiectatic vessels and in assessing the effectiveness of therapy
Dans la maladie de Coats, les H vs les F plus affectés ?
Uni vs bilat ?
Average age at presentation ?
Homme
Usually unilatéral
6-8 ans
2 éléments à rechercher à l’e/p pour différencer Coats vs rétinoblastome ?
- Calcium is frequently detected by ultrasonography in retinoblastoma vs calcium is rare in Coats disease.
- Coats disease often presents with xanthocoria (yellow pupillary reflex), whereas retinoblastoma presents with leukocoria.
Trouvailles ophtalmo associées au PFV ?
Unilat > bilat
Leukocorie
Micro-ophtalmie
Cataracte, retrolental plaques (ad glaucome)
Mild : prominent hyaloid vessel remnants, Mittendorfot, Bergmeister papilla
Severe : persistent hyaloid artery, elongated ciliary process, prominent radial iris vessels
Traction on the retina / NO
2 trouvailles qui distinguent rétinoblastome vs PFV ?
Microphtalmia, cataract
Conditions systémiques associés au PFV ? (3)
Norrie
T13
Walker-Warburg syndrome
Développement de la rétine : rétine nasal et temporale atteingnent l’orra serrata à combien de semaine de gestation ?
Nasal : 36 semaines
Temporal : 40 semaines
ROP : définition de « Plus disease » ?
Dilatation veineuse et tortuosité artériolaire au pôle postérieur dans au moins 2 cadrans
ROP : définition de l’aggressive posterior ROP (APROP)?
Zone I or posterior II
Plus disease in 4 quadrants
Shunt vessels
Flat neovasc at junction vascularized - avascalur retina
ROP : What’s treshold disease ? What trial defined it ?
The Cryotherapy for Retinopathy of Prematurity (CRYOROP) trial defined threshold disease as : 5 contiguous or 8 total clockhours of stage 3 ROP in zone I or II in the presence of plus disease.
ROP : What’s pre-treshold disease ? What trial defined it ?
The Early Treatment for Retinopathy of Prematurity (ETROP) trial defined pre-threshold disease as all zone I and zone II ROP changes that do not meet threshold treatment criteria, except for zone II stage 1 and zone II stage 2 without plus disease.
Further divided in type 1 and 2 :
Type 1 : treatment
* Zone 1, ROP +
* Zone 1, ROP stage 3
* Zone II, ROP + stage 2 or 3
Type 2 : close observation
* Zone 1, ROP stage 1-2
* Zone II, ROP stage 3
À quel âge on obtient un ERG plus fiable ?
6-10 mois
DDX pupilles paradoxales ?
Achromatopsie
Albinism
Best Disease
CSNB
LCA
Optic nerve hypoplasia
Retinitis pigmentosa
Gène le plus fréquemment associé au Leber congenital amaurosis ? Transmission ?
AR, CEP290 (15%)
GUCY2D, CRB1, RPE65
