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E. T. Tsilou, N. Giri, S. Weinstein, C. Mueller, S. Savage, B. P. Alter; Ophthalmic Manifestations of the Inherited Bone Marrow Failure Syndromes. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2320.
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The inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders that share the inability of the bone marrow to produce an adequate number of blood cells. The four most frequent syndromes are Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA) and Shwachman-Diamond syndrome (SDS). All four syndromes have been associated with various physical abnormalities. As part of a genotype/phenotype/cancer susceptibility study, we determined the prevalence of ophthalmic manifestations in these four syndromes.
75 patients with an IBMFS and 123 of their first degree relatives were seen at the National Institutes of Health from 2001 to 2007. The patient group included 22 FA, 28 DC, 19 DBA and 6 SDS. Every participant underwent a complete ophthalmic evaluation, as well as digital facial photography with a ruler. Interpupillary distance (IPD), inner canthal distance (ICD), outer canthal distance (OCD), palpebral fissure length (PFL) and corneal diameter were measured. A subset of FA patients underwent A-scan ultrasonography for axial length (AL) measurements (13/22).
95% of patients with FA had at least one abnormal parameter, and 25% four or five abnormal parameters. 82% had small palpebral fissures, 69% simple microphthalmia, 64% small OCD, 59% microcornea, 28% ptosis, and 6% epicanthal folds. In patients with DC abnormalities of the lacrimal drainage system (29%) were the most prevalent findings followed by retinal abnormalities (vascular sheathing, +/- neovascularization, +/-exudation, +/- detachment) in 11%, distichiasis (7%), blepharitis (7%), sparse eyelashes (3.5%) and congenital cataract (3.5). No significant ophthalmic abnormalities were seen in patients with DBA or SDS.
Syndrome specific ocular morbidity is associated with FA and DC. Early recognition of these abnormalities is important for optimal management.
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