Journal of Pediatric Ophthalmology and Strabismus

What's Your Diagnosis?

David S Walton, MD

Abstract

Improve your diagnostic acumen

The Case

An 11-year-old boy was seen for a routine eye evaluation. Corrected visual acuity, ocular adnexa, and extraocular muscles were normal. Slit-lamp examination of the left eye showed multiple elevated, moderately pigmented, dome-shaped iris lesions (Figure). Gonioscopic examination revealed open angles with several bilateral iridotrabecular attachments. Funduscopic examination of the left eye showed a hyperpigmented lesion of the retinal pigment epithelium. General physical examination revealed multiple flat, pigmented skin lesions larger than 5 mm in diameter on his trunk and freckling in the axillary regions. A first-degree relative had similar iris abnormalities.

What's your diagnosis?

The correct answer to What's Your Diagnosis? is Lisch nodules associated with neurofibromatosis type 1 .

1. Lisch K. Ueber Beteiligung der Augen, insbesondere das Vorkommen von Irisknötchen bei der Neurofib rematose (Recklinghausen). Z. Augenheilkd 1937;93:137-l43.

2. Nichols JC, Amato JE, Chung SM. Characteristics of Lisch nodules in patients with neurofibromatosis type 1. JPediatr Ophthalmol Strabismus 2003;40:293-296.

3. Ragge NK, Falk RE, Cohen WE, Murphree AL. Images of Lisch nodules across the spectrum. Eye 1993:7:95-101.…

Improve your diagnostic acumen

The Case

An 11-year-old boy was seen for a routine eye evaluation. Corrected visual acuity, ocular adnexa, and extraocular muscles were normal. Slit-lamp examination of the left eye showed multiple elevated, moderately pigmented, dome-shaped iris lesions (Figure). Gonioscopic examination revealed open angles with several bilateral iridotrabecular attachments. Funduscopic examination of the left eye showed a hyperpigmented lesion of the retinal pigment epithelium. General physical examination revealed multiple flat, pigmented skin lesions larger than 5 mm in diameter on his trunk and freckling in the axillary regions. A first-degree relative had similar iris abnormalities.

What's your diagnosis?

The correct answer to What's Your Diagnosis? is Lisch nodules associated with neurofibromatosis type 1 .

REFERENCES

1. Lisch K. Ueber Beteiligung der Augen, insbesondere das Vorkommen von Irisknötchen bei der Neurofib rematose (Recklinghausen). Z. Augenheilkd 1937;93:137-l43.

2. Nichols JC, Amato JE, Chung SM. Characteristics of Lisch nodules in patients with neurofibromatosis type 1. JPediatr Ophthalmol Strabismus 2003;40:293-296.

3. Ragge NK, Falk RE, Cohen WE, Murphree AL. Images of Lisch nodules across the spectrum. Eye 1993:7:95-101.

10.3928/0191-3913-20070301-05

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