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E.T. Tsilou, B.P. Alter; Ophthalmic Manifestations of Fanconi Anemia . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3213.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Fanconi anemia (FA) is a rare, autosomal recessive DNA repair disorder, with a high frequency of birth defects and aplastic anemia, and a very high susceptibility to cancer (leukemia, head and neck, and gynecologic). There are 11 complementation groups, among which 9 genes have been cloned. According to the literature, 23% of FA patients have an ophthalmic abnormality. As a component of a genotype/phenotype/cancer susceptibility study, we examined ophthalmic parameters in FA patients and their first degree relatives. Methods: 15 patients with FA (10 group A, 4 C, 1 F), 19 parents (obligate heterozygotes), and 13 siblings (5 known heterozygotes, 3 normal, and 5 not yet characterized) were seen at the National Institutes of Health between 2001 and 2004. Everyone underwent a complete ophthalmic evaluation, as well as facial photography with a ruler. A–scan ultrasonography was performed in a subset of subjects. Interpupillary distance (IPD), inner canthal distance (ICD), outer canthal distance (OCD), palpebral fissure length (PFL) and corneal diameter were measured. Results: 53% of the FA patients and 58% of the parents were myopic, compared to 15% of the siblings. Among the 15 FA patients, 1 patient had epicanthal folds, 3 had some degree of ptosis, 5 small ICD, 9 small OCD, 11 small PFL, and 13 microcornea (diameter <11.8 mm). 6/19 parents had microcorneas, as did 3/13 siblings. In the homozygotes, the median IPD was 5.45 cm (range 4.3–5.9), ICD 2.9 cm (2.6–3.4), OCD 8.1 cm (6.3–8.6), PFL 2.6 (1.9–2.9), and corneal diameter 11 (8.9–11.9). All of these parameters were significantly smaller in the FA patients than in their parents or siblings. Ten of the FA patients had 3 or more abnormal parameters. In the 4 FA homozygotes who underwent a–scan ultrasonography the mean axial length was 20.37 mm. Conclusions: Ophthalmic manifestations, particularly small PFL and microcornea, appear to be present in a larger percentage of FA patients (73 and 87% respectively) than previously thought. Within our small data set, there is no apparent correlation between the ophthalmic findings and the complementation group. Further studies are required to help us better understand the etiology of these ophthalmic abnormalities in FA.
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