Publications by authors named "Tariq Alzahem"
Article Synopsis
- The study revised a diagnosis of Usher syndrome to PRPS1-associated retinopathy and Charcot-Marie-Tooth disease type 5 in a 38-year-old female with visual and hearing impairments.
- The patient initially had genetic variants linked to Usher syndrome but was found to have additional symptoms like asymmetrical retinopathy and muscle atrophy upon further evaluation.
- The case highlights the importance of correlating genetic testing results with clinical symptoms, suggesting that atypical presentations may require broader diagnostic approaches beyond standard panels.
Article Synopsis
- The "C group" of histiocytic disorders includes Juvenile xanthogranuloma (JXG), which primarily affects the skin and is most commonly found in the eye.
- A retrospective study over 25 years diagnosed 20 patients with "Group C" disease, with 11 cases of JXG and 8 cases of adult-onset xanthogranuloma (AXG), mainly presenting unilaterally.
- JXG often presents with eyelid lesions, while AXG can be mistaken for xanthelasma, highlighting the importance of accurate diagnosis through histopathological analysis.
Purpose: Patients with cone dystrophy (CD) can present with virtually normal retinal appearance, which may delay diagnosis. This study describes the inconspicuous clinical features of -associated CD in two Saudi families.
Methods: This is a retrospective case study.
We report a case of a 62-year-old man who presented with blurred and distorted vision in both eyes. Fundus examination revealed a fibrous band-like membrane emanating from the disc to the foveal center in the right eye, aneurysmal gray parafoveal lesions in both eyes, and an inferotemporal peripheral vascular tumor in the right eye. The presence of an epiretinal membrane with vitreomacular traction in this patient has led to the diagnosis of an incidental peripheral vascular tumor.
View Article and Find Full Text PDFIntroduction: Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) are rare histiocytic disorders in the L (Langerhans) group diseases. They range from self-limited benign diseases to lethal disseminated forms.
Methods: This retrospective study was conducted in 3 tertiary hospitals in Saudi Arabia and Brazil.
Background: To provide basic demographic information and clinicopathologic features of ophthalmic Rosai-Dorfman disease (RDD) with a literature review.
Methods: A multi-centre retrospective case series reviewing all patients with histopathologically confirmed ophthalmic RDD at three tertiary eye care centres between January 1993 and December 2018.
Results: Eleven eyes of eight patients with histopathologically confirmed ophthalmic RDD were included, with equal numbers of males and females.
Article Synopsis
- - This study investigates rare ophthalmic histiocytic lesions characterized by abnormal histiocyte proliferation, aiming to gather demographic, clinical, and histopathological data that has not been previously analyzed comprehensively in this field.
- - Conducted as a retrospective review of biopsied ocular lesions from two Saudi hospitals, it included 34 cases from 28 patients, primarily Saudi, with a male-to-female ratio of 4:3 and a median age of 6.4 years.
- - Key findings reveal that in Langerhans cell histiocytosis (LCH), common symptoms include eyelid swelling and proptosis, while Rosai Dorfman disease (RDD) patients typically experienced proptosis and vision loss
Background: Adams-Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along with variable involvement of the central nervous system, eyes, and cardiovascular system. AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in the , and genes have been associated with AOS.
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