A 7-Month-Old Boy With Photophobia
A 7-Month-Old Boy With Photophobia
A 7-month-old boy with no past medical history was brought to the emergency department by his parents because they noticed that he had been tearing and had trouble looking at bright lights for the past 3 months. He squeezes both eyes shut in normal lighting, but he is able to play with toys and crawl around the room in dim lighting.
His parents reported that the patient was born full term and weighed 7 lbs 7 oz. His pediatrician documented that he has met normal developmental milestones. His 3-year-old sister has normal vision and no other health problems, but a distant relative was diagnosed with glaucoma at an early age.
On examination, the patient was able to fix and follow with both eyes, and the pupils were equal and reactive with no relative afferent pupillary defect. Motility and alignment were normal with no nystagmus. Intraocular pressures measured with a Tono-Pen (Reichert Technologies, Depew, New York) were 57 mm Hg in both eyes. The conjunctiva were quiet, but both corneas measured 13-14 mm and had areas of mild central and inferior haziness with fine horizontal striae (Figures 1-3). The iris and lens were normal in both eyes. On dilated fundus examination, the cup-to-disc ratios were 0.7 in the right eye and 0.6 in the left eye, with superior and inferior thinning in both eyes. The remainder of the retinal examination was normal. The patient's refractive error was -8.00 diopters (D) in both eyes.
Figure 1. Areas of inferior and superior haze were seen on the corneas at the time of examination under anesthesia.
Figure 2. Corneal diameters measure 13-14 mm in both eyes, as demonstrated in this photograph.
Figure 3. This photograph again demonstrates the enlarged corneal diameters and corneal haze with which the patient presented. Haab's striae were also present in both eyes.
What is the most likely diagnosis?
A. Bilateral nasolacrimal duct obstruction
B. Microbial keratitis
C. Anterior segment dysgenesis
D. Congenital or infantile glaucoma
E. Peter's anomaly
View the correct answer
Answer: D. Congenital or infantile glaucoma
The history of tearing, photophobia, and blepharospasm in both eyes with bilateral large corneas, corneal edema, Haab's striae, elevated intraocular pressures, prominent cupping, buphthalmos, and secondary myopia are strongly suggestive of glaucoma.
What findings are expected on gonioscopy for this condition?
A. 360 degrees of peripheral anterior synechiae
B. Anterior displacement of Schwalbe's line with prominent iris processes
C. Blood in Schlemm's canal
D. Normal anatomy
E. High insertion of the iris
View the correct answer
Answer: E. High insertion of the iris
High insertion of the iris and Barkan's membrane are associated with congenital glaucoma. Peripheral anterior synechiae are associated with inflammation. Anterior displacement of Schwalbe's line with prominent iris processes is characteristic of Axenfeld-Reiger syndrome. Blood in Schlemm's canal can be seen in a variety of conditions in which episcleral venous pressure is elevated relative to intraocular pressure.
What is the topical medication of choice for young children with elevated intraocular pressure?
A. Brimonidine
B. Scopolamine
C. Latanoprost
D. Dorzolamide
E. Pilocarpine
View the correct answer
Answer: D. Dorzolamide
Carbonic anhydrase inhibitors are the medication of choice for children with elevated intraocular pressures.
What is the normal horizontal corneal diameter at birth?
A. 7.5-8.5 mm
B. 8.5-9.5 mm
C. 9.5-10.5 mm
D. 10.5-11.5 mm
E. 11.5-12.5 mm
View the correct answer
Answer: C. 9.5-10.5 mm
The normal horizontal corneal diameter is 9.5-10.5 mm in full-term newborns. Patients with congenital glaucoma typically have corneal diameters that are > 12 mm.
Clinical Presentation
A 7-month-old boy with no past medical history was brought to the emergency department by his parents because they noticed that he had been tearing and had trouble looking at bright lights for the past 3 months. He squeezes both eyes shut in normal lighting, but he is able to play with toys and crawl around the room in dim lighting.
His parents reported that the patient was born full term and weighed 7 lbs 7 oz. His pediatrician documented that he has met normal developmental milestones. His 3-year-old sister has normal vision and no other health problems, but a distant relative was diagnosed with glaucoma at an early age.
On examination, the patient was able to fix and follow with both eyes, and the pupils were equal and reactive with no relative afferent pupillary defect. Motility and alignment were normal with no nystagmus. Intraocular pressures measured with a Tono-Pen (Reichert Technologies, Depew, New York) were 57 mm Hg in both eyes. The conjunctiva were quiet, but both corneas measured 13-14 mm and had areas of mild central and inferior haziness with fine horizontal striae (Figures 1-3). The iris and lens were normal in both eyes. On dilated fundus examination, the cup-to-disc ratios were 0.7 in the right eye and 0.6 in the left eye, with superior and inferior thinning in both eyes. The remainder of the retinal examination was normal. The patient's refractive error was -8.00 diopters (D) in both eyes.
Figure 1. Areas of inferior and superior haze were seen on the corneas at the time of examination under anesthesia.
Figure 2. Corneal diameters measure 13-14 mm in both eyes, as demonstrated in this photograph.
Figure 3. This photograph again demonstrates the enlarged corneal diameters and corneal haze with which the patient presented. Haab's striae were also present in both eyes.
What is the most likely diagnosis?
A. Bilateral nasolacrimal duct obstruction
B. Microbial keratitis
C. Anterior segment dysgenesis
D. Congenital or infantile glaucoma
E. Peter's anomaly
View the correct answer
Answer: D. Congenital or infantile glaucoma
The history of tearing, photophobia, and blepharospasm in both eyes with bilateral large corneas, corneal edema, Haab's striae, elevated intraocular pressures, prominent cupping, buphthalmos, and secondary myopia are strongly suggestive of glaucoma.
What findings are expected on gonioscopy for this condition?
A. 360 degrees of peripheral anterior synechiae
B. Anterior displacement of Schwalbe's line with prominent iris processes
C. Blood in Schlemm's canal
D. Normal anatomy
E. High insertion of the iris
View the correct answer
Answer: E. High insertion of the iris
High insertion of the iris and Barkan's membrane are associated with congenital glaucoma. Peripheral anterior synechiae are associated with inflammation. Anterior displacement of Schwalbe's line with prominent iris processes is characteristic of Axenfeld-Reiger syndrome. Blood in Schlemm's canal can be seen in a variety of conditions in which episcleral venous pressure is elevated relative to intraocular pressure.
What is the topical medication of choice for young children with elevated intraocular pressure?
A. Brimonidine
B. Scopolamine
C. Latanoprost
D. Dorzolamide
E. Pilocarpine
View the correct answer
Answer: D. Dorzolamide
Carbonic anhydrase inhibitors are the medication of choice for children with elevated intraocular pressures.
What is the normal horizontal corneal diameter at birth?
A. 7.5-8.5 mm
B. 8.5-9.5 mm
C. 9.5-10.5 mm
D. 10.5-11.5 mm
E. 11.5-12.5 mm
View the correct answer
Answer: C. 9.5-10.5 mm
The normal horizontal corneal diameter is 9.5-10.5 mm in full-term newborns. Patients with congenital glaucoma typically have corneal diameters that are > 12 mm.
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