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Test Paper 5
Published in Teck Yew Chin, Susan Cheng Shelmerdine, Akash Ganguly, Chinedum Anosike, Get Through, 2017
Teck Yew Chin, Susan Cheng Shelmerdine, Akash Ganguly, Chinedum Anosike
A 42-year-old man presented with right-sided proptosis with mass in the inner canthus of the eye. An axial CT scan showed soft-tissue density and expansion of the right anterior ethmoid air cells bulging into the orbit. The extraocular muscles were displaced but not involved. What is the diagnosis? EncephaloceleAnterior ethmoid mucocoeleDestructive midline granulomaWagner’s diseaseEsthesioneuroblastoma
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1
Published in Ophthalmic Genetics, 2022
Nathália Nishiyama Tondelli, Beatriz Mello Mencaroni, Carolina Maria Barbosa Lemos, Jefferson Rocha de Sousa, Gabriel Castilho Sandoval Barbosa, André Marcelo Vieira Gomes, Mariana Matioli da Palma
XLRS is one of the more common causes of juvenile macular degeneration in males (3). Because of that, Stargardt disease, the most common inherited macular dystrophy caused by variants in ABCA4 (20) has to be considered in the differential diagnosis. The differential diagnosis of our case also includes Goldmann-Favre syndrome, Wagner disease, and Stellate nonhereditary idiopathic foveomacular retinoschisis. Goldmann-Favre syndrome is caused by variants in NR2E3 in which macular cystoid changes are seen. Patients complain of nyctalopia and present with pigmented changes in the mid-periphery that are not presented in XLRS (21). Wagner disease caused by variants in VCAN is characterized by myopia, vitreous syneresis, and retinal detachment, different of XLRS patients that tend to be hyperopic (3). Stellate nonhereditary idiopathic foveomacular retinoschisis is a form of retinoschisis involving a different retinal layer (22).