[source]
pmid = PMID:24073597
title = X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8)
[diagnosis]
disease_id = OMIM:309300
disease_label = Megalocornea 1, X-linked
[text]
An eleven-year-old boy (Figure 1, III-1) with a history of impaired vision since age 4 was referred to one of the
authors (S.J.I.) for evaluation. Corrected distance visual acuity (CDVA) was 20/25 OU and both corneas were clear but
enlarged with horizontal corneal diameters measuring 15.0 mm OD and 14.5 mm OS (Figure 2A–C).
The intraocular pressures were within normal limits and optic nerve cupping was not observed in either eye.
At age 15, he was referred to another of the authors (A.J.A.) for examination and DNA collection.
CDVA measured 20/25 OD and 20/30 OS and slit lamp examination revealed bilaterally enlarged cornea diameters of 14.0 mm OU
without abnormalities of clarity or contour. The anterior chambers were of increased depth, measuring 6.34 mm OD and
6.14 mm OS and the central corneal pachymetry was decreased at 463 microns OD and 461 microns OS. Corneal topographic
imaging was unremarkable, with average keratometry values of 43.9 D OD and 44.0 D OS (Figure 2D).
Slit lamp photomicrographs of 11-year-old boy with X-linked megalocornea demonstrating (A) enlarged corneal diameter
(B) normal corneal contour and (C) deep anterior chamber. (D) Corneal tomographic imaging of the right eye demonstrates
an average corneal curvature of 43.9 D and 1.4 diopters of with-the-rule astigmatism on the Keratometric map (bottom left).
The Thickness map (bottom right) demonstrates decreased central and peripheral corneal thickness and an estimated
anterior chamber depth of 6.34 mm.
