Okpo Eme, Shanono Aisha Haruna, Nwakuche P. Ikechukwu, Ogbonna Bright Chiedozie, Onyeije Odinakachi Lucky
Abstract
Marfan syndrome (MFS) is an inherited disorder that affects the heart, joints, skeleton, skin, and eyes. People living with MFS are described as tall, long, slender built in appearance, with arachnodactyly, chest wall deformities, and scoliosis. A long, narrow face with deep-set eyes, down-slanting palpebral fissures, flat cheekbones, and a small chin are the facial features often found in people with MFS. The onset varies from infancy to all ages, with most cases being diagnosed in the first two decades of life. In children, ocular findings are microspherophakia, congenital/infantile glaucoma, high refractive error at a young age, uveitis, retinal detachments, and enophthalmos secondary to the absence of retrobulbar fat. The basic management procedures include topical dilating agents for chronic dilation of the eye to increase pupillary size for aphakic correction, thorough and careful refraction, the use of contact lenses and/or glasses, removal of the dislocated lens, cataract surgery and treatment of amblyopia. Low-vision assessments were conducted on the patients. The approach to managing the two patients, whose cases are being reported, differed for each case and deviated from conventional low vision management. Spectacle corrections of OD -20.00DS (1.76LogMar 6/36 near: 0.80M@23cm) and OD +7.50DS (6/9 1M@12cm) were issued for Cases 1 & 2, respectively. 8X Telescope (6/9) and magnifiers (4X Handheld N5 and spectacle +16 DS 0.50m/ N5) were recommended for cases 1 and 2 respectively. Low vision and rehabilitation were found to maximise visual functioning and are reliable options for MFS.
Keywords: Low vision, magnifier, Marfan syndrome, hereditary.