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Megalocornea: what big eyes you have

Poster Details

First Author: M.Loureiro PORTUGAL

Co Author(s):    R. Varandas   C. Arêde           

Abstract Details



Purpose:

Megalocornea is a rare, inherited (predominantly x-linked) congenital disease characterized by nonprogressive enlargement of the corneal diameter in the absence of elevated intraocular pressure. Can be observed as a simple and isolated entity or associated with ocular and systemic abnormalities. The authors intend to describe the ocular and systemic findings of a clinical case of megalocornea without evidence of glaucoma, discuss the evolution over the 12 years of follow-up and document the late onset of striae in the Descemet's membrane despite normal tension and unchanged fundus.

Setting:

Centro Hospitalar de Gaia Porto Portugal

Methods:

Clinical case of megalocornea with some peculiarities as compared with the majority of the cases described. Description of the clinical findings and documentation with photography, topography (Orbscan) and anterior segment optical coherence tomography (OCT spectral domain).

Results:

Male child, caucasian, with 3-months-old presented with enlarged cornea bilaterally, without photophobia, blepharospasm or corneal hypotransparency. Premature birth of 35 weeks with 2700 Kg and history of cytomegalovirus infection in pregnancy. On the examination under anesthesia, intraocular pressure (IOP) on the right eye (OD) was 16 mmHg and on left eye (OS) 14 mmHg, the corneal diameters were (vertical/horizontal) OD:14/14 mm and OS: 14/14 mm, without Haab's striae, normal iris and transparent media. The funduscopic exam showed pink papilla and normal cup/disk ratio. The child was diagnosed with simple megalocornea and regularly observed. In the following months a mild development delay was noted. In 12 years of follow-up, maintains good visual acuity, normal IOP and stable cornea diameters. In the last observation, were found striae (horizontals and oblique) in Descemet's membrane (documented by OCT) and was also observed increased corneal thickness (OD: 605 µm, OS: 605 µm, centrally) without edema, high anterior chamber depth (ACD OD: 4.46 mm, OS: 4.37 mm), keratometry within normality ((Kmax /min) OD: 42.6D @ 141º/ 42.0D @ 51º, OE: 43.0D @ 57º / 42.1D @ 147º) and low endothelial cell density (OD: 1443 cells/mm2, OE: 1745 cells/mm2).

Conclusions:

This is a case of megalocornea with stability during 12 years, with recent findings of Haab's striae despite normal tension and no evidence of injury in the optic nerve. They cause irregularities in the cornea (seen in topography) and may have contributed to the unusual presence of increased thickness without edema and low number of endothelial cells. FINANCIAL INTEREST: NONE

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