Journal of Pediatric Ophthalmology and Strabismus

Whats Your Diagnosis 

Hypertelorism. . .Plus

Helen H. Yeung, MD

Abstract

A 6-month-old female infant presented for evaluation of tearing and photophobia in both eyes. Her birth history was notable because she was born full term at 39 weeks with a high index of amniotic fluid during the last few weeks of pregnancy. The patient was admitted to the neonatal intensive care unit for 5 weeks due to respiratory distress, and she was found to have multiple episodes of aspiration in addition to leukocytosis. Subtle facial features (Figure 1A) and broad radially angulated first toes and thumbs (Figures 1B–1C) were noted on physical examination. Genetic testing was performed. Medical history was significant for developmental delay and recent placement of a gastrostomy tube. Office examination was notable for down slanting palpebral fissures, mild ptosis bilaterally, and hypertelorism. The eye examination revealed bilateral increased corneal diameters. Haab's striae and deep anterior chambers were present. The intraocular pressures were 20 mm Hg in the right eye and 29 mm Hg in the left eye on applanation tonometry. On dilated examination, there was bilateral cupping with a cup-to-disc ratio of 0.8. The retina in both eyes was normal. Cycloplegic refraction revealed moderate myopia and astigmatism bilaterally. Topical glaucoma medications were given and the intraocular pressure in the left eye remained elevated. The patient underwent a goniotomy in the left eye. Subsequently the intraocular pressure has remained under control without medications.

For the correct answer, see page 54.

The answer for What's Your Diagnosis? is congenital glaucoma with Rubinstein-Taybi syndrome.…

A 6-month-old female infant presented for evaluation of tearing and photophobia in both eyes. Her birth history was notable because she was born full term at 39 weeks with a high index of amniotic fluid during the last few weeks of pregnancy. The patient was admitted to the neonatal intensive care unit for 5 weeks due to respiratory distress, and she was found to have multiple episodes of aspiration in addition to leukocytosis. Subtle facial features (Figure 1A) and broad radially angulated first toes and thumbs (Figures 1B–1C) were noted on physical examination. Genetic testing was performed. Medical history was significant for developmental delay and recent placement of a gastrostomy tube. Office examination was notable for down slanting palpebral fissures, mild ptosis bilaterally, and hypertelorism. The eye examination revealed bilateral increased corneal diameters. Haab's striae and deep anterior chambers were present. The intraocular pressures were 20 mm Hg in the right eye and 29 mm Hg in the left eye on applanation tonometry. On dilated examination, there was bilateral cupping with a cup-to-disc ratio of 0.8. The retina in both eyes was normal. Cycloplegic refraction revealed moderate myopia and astigmatism bilaterally. Topical glaucoma medications were given and the intraocular pressure in the left eye remained elevated. The patient underwent a goniotomy in the left eye. Subsequently the intraocular pressure has remained under control without medications.

What's Your Diagnosis?

For the correct answer, see page 54.

The answer for What's Your Diagnosis? is congenital glaucoma with Rubinstein-Taybi syndrome.

References

  1. Brei TJ, Burke MJ, Rubinstein JH. Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome. J Pediatr Ophthalmol Strabismus. 1995;32(4):248–252.
  2. DaCosta J, Brookes J. Infantile glaucoma in Rubinstein-Taybi syndrome. Eye (Lond). 2012;26(9):1270–1271. doi:10.1038/eye.2012.123 [CrossRef]
  3. Quaranta L, Quaranta CA. Congenital glaucoma associated with Rubinstein-Taybi syndrome. Acta Ophthalmol Scand. 1998;76(1):112–113. doi:10.1034/j.1600-0420.1998.760122.x [CrossRef]
Authors

From the Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts.

The author has no financial or proprietary interest in the materials presented herein.

Correspondence: Helen H. Yeung, MD, 2 Longfellow Place, Suite 201, Boston, MA 02114. Email: helen.h.yeung.md@gmail.com

10.3928/01913913-20201221-02

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