Purpose: Congenital hereditary endothelial dystrophy (CHED) and congenital glaucoma are two distinctive disorders that are only rarely encountered together in the same individual. We describe the first report of a family with presumed CHED and congenital glaucoma suggesting the possibility of autosomal recessive trait.
Methods: Eight, 4 and 3-year-old siblings to second cousin marriage parents were born with corneal stromal edema and increased intraocular pressure.
Results: The 3 affected siblings were born with diffuse uniform, bilateral and symmetric corneal opacities caused by stroma edema. Corneal thickness was 1.0-1.2 mm. The eyeball sizes and corneal diameters were normal. No Haabe striae or iris irregularities were found. The intraocular pressures in the three siblings were 30-35 mmHg. In the two elderly girls the intraocular pressure decreased to 10-20 mmHg with timolol maleate 0.5% bid. The 3-year-old sun underwent combined trabeculectomy and trabeculectomy and was treated thereafter with timolol maleate 0.5% bid. The intraocular pressure decreased to 14-18 mmHg. However, despite decrease in intraocular pressures, the corneal edema did not resolved for a follow-up of 3 years and visual acuity remained between 20/60 and 20/160. Another brother and the two parents had clear corneas with ~3,000 endothelial cells/mm2 and normal intraocular pressure. This suggests an autosomal recessive pattern for the presumed combined CHED and glaucoma.
Conclusion: CHED and glaucoma may be familial and transmitted in autosomal recessive trait. The data emphasize the importance of intraocular pressure measurement and optic disc evaluation in all patients with established diagnosis of CHED.
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