Peripheral Circumferential Chorioretinal Atrophy in a Patient with Alagille Syndrome
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چکیده
منابع مشابه
Peripheral Circumferential Chorioretinal Atrophy in a Patient with Alagille Syndrome
The patient was a 15-year-old girl with an established diagnosis of Alagille syndrome (AS) since early life. Her medical history was significant for systemic manifestations of AS including liver transplantation and pulmonary artery balloon dilation. She had an unusual triangular facies characterized by a broad overhanging forehead, deep set, hyperteloric eyes and small pointed chin. Her bestcor...
متن کاملOptical coherence tomography and fundus autofluorescence imaging study of chorioretinal atrophy involving the macula in Alagille syndrome
We report the first case in the literature of chorioretinal atrophy involving the macula in an 11-year-old girl with Alagille syndrome, as examined by optical coherence tomography, and fundus autofluorescence imaging. Funduscopy revealed diffuse choroidal hypopigmentation with increased visibility of the choroidal vessels and symmetric, well circumscribed macular discoloration. Anomalous obliqu...
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The diagnosis of necrotising viral chorioretinitis in a child with leukaemia in remission was confirmed by the presence of viral particles on electron microscopy. Biopsy from the blind eye differentiated between leukaemic infiltrates and an infectious process after further investigations initially failed to support either diagnosis. Diagnostic chorioretinal biopsy may be indicated in a blind ey...
متن کاملAlagille Syndrome: a Review
Alagille Syndrome (AGS) is a genetically determined multisystem disorder affecting liver, hearth, eyes, skeleton and facies, less commonly kidney and CNS. The prognosis depends on the severity of the associated anomalies. The liver pathology plays a central role in that most clinical complications are due to long standing cholestasis as a consequence of lack of bile excretion secondary to pauci...
متن کاملAlagille syndrome with a previously undescribed mutation.
BACKGROUND Alagille Syndrome is a rare genetic disease characterized by abnormalities of the intrahepatic biliary ducts with cholestasis along with multisystem anomalies. CASE CHARACTERISTICS An 8-year old child with persisting jaundice, severe itching and failure to thrive. OBSERVATION Diagnosis of Alagille syndrome was made on the basis of clinical features, typical facies and liver biops...
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ژورنال
عنوان ژورنال: Imaging Journal of Clinical and Medical Sciences
سال: 2016
ISSN: 2455-8702
DOI: 10.17352/2455-8702.000026