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KC Sippel, JF Rizzo; Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) with Unexplained Visual Loss . Invest. Ophthalmol. Vis. Sci. 2002;43(13):178.
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Purpose: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominantly inherited disorder. We describe irregular corneal astigmatism in a patient with BPES and abnormal apposition of the eyelids to the globes that resulted in optical distortion not identifiable by slit lamp examination. Method: Case review of one patient. EyeSys corneal topography testing, including images obtained after prolonged gaze in different cardinal directions, was performed. Results: A 13 year old boy with BPES was referred to the Neuro-ophthalmology Service of the Massachusetts Eye & Ear Infirmary for evaluation of unexplained decreased visual acuity in both eyes. The patient had undergone multiple ophthalmic corrective procedures in early childhood, including frontalis sling procedures for correction of blepharoptosis. He had undergone multiple ophthalmic and neurologic evaluations at outside institutions; head CT and MRI scans and electroencephalographic and visual evoked potential testing had all proved unremarkable. At the time of his presentation he had best spectacle corrected visual acuities of 20/60 OD and 20/50 OS. Examination revealed abnormal apposition of the eyelids to the globes, presumably secondary to a combination of the BPES and earlier ptosis surgeries. The degree to which the lids were apposed to the globe varied with the position of gaze. EyeSys corneal topography revealed irregular astigmatism (in a "skewed bowtie" pattern). The pattern of astigmatism changed after prolonged gaze in different directions. The patient achieved 20/20 visual acuity with hard contact lenses. Conclusion: We hypothesize that the abnormal relationship of the eyelids to the globes caused distortion of the normal corneal curvature and development of irregular corneal astigmatism. The corneal deformity was occult, i.e. not recognizable by slit lamp examination and only measurable by corneal topography. The occult nature of the optical distortion can lead to erroneous consideration of neurologic or non-organic visual loss and unnecessary testing of the patient, as occurred here. Repeated inability to fit spectacles should suggest the possibility of irregular corneal astigmatism.
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