PMC10073985_01
A: Image of the patient's right eye depicting congenital cerulean (blue) dot cataract. B: Image of the patient's left eye depicting acute corneal hydrops.
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F1
Anterior segment examination in right eye revealed Fleischer's ring, conical protrusion of cornea with blue dot cataract (Figure 1A (Fig. 1)), and LE examination revealed circumcorneal congestion, conical protrusion of cornea with epithelial bullae with diffuse stromal edema and a break in Descemet membrane suggestive of acute corneal hydrops (Figure 1B (Fig. 1)).
Image of the pentacam of the patient's right eye depicting elevated K1 and K2 reading, thinnest pachymentry of 337 mum, paracentral and mild inferior steepening, anterior and posterior float elevation, altered indices and corneal thickness spatial profile suggestive of advanced keratoconus changes
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F2
Pentacam evaluation of the right eye revealed advanced keratoconus with K1 -52.7 D, K2 -63.3 D and thinnest pachymetry value of 337 mum (Figure 2 (Fig. 2)).
A: Image of the patient's hand depicting short broad hands, short fifth finger, and single palmar crease. B: Image of the patient's leg depicting widened gap between first and second toe (sandal gap).
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F3
General physical examination depicted flat facial profile, upward slant of eye, epicanthal folds, enlarged protruded tongue, excessive skin on nape of neck with short neck, abnormal shaped ears, short broad hands, short fifth finger, single palmar crease, widened gap between first and second toe (sandal gap) (Figure 3A/B (Fig. 3)), small bones, hyper flexibility and muscular hypotonia.