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D.M. Krumholz, S. Slotnick, D. FitzGerald, J. Sherman; Optical Coherence Tomography Differentiates Retinal From Choroidal Folds in Familial Posterior Microphthalmus . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3284.
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© ARVO (1962-2015); The Authors (2016-present)
To present a novel maculopathy in two siblings. To illustrate how Optical Coherence Tomography (OCT) provided previously unavailable information, and to show how examining blood relatives aided diagnosis.
A comprehensive eye examination including history, refraction, binocular testing, fundoscopy, pachymetry, ultrasonography, and OCT imaging was performed. A blood relative was also examined.
Two siblings were found to have posterior microphthalmos. Both had extreme hyperopia, esotropia, hypoplastic optic nerve heads, and retinal folds in the macula of each eye. Axial length was approximately 15mm. The corneas were thickened, as were the retinas. OCT imaging showed the macular folds to involve the retina only, leaving the choroid and sclera unaffected. Both the fundus appearance and the OCT images were virtually identical in each patient.
We present two siblings with posterior microphthalmos. The anatomical information provided by OCT offered clues as to the etiology of the presenting conditions. Additionally, examination of a blood relative helped to clarify the clinical picture. Together, these factors influenced our diagnostic decisions and treatment considerations.
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