Eye Findings in Dermatologic Conditions
As part of our commitment to resident education, Cutis is excited to offer this monthly section with board-relevant, easy-to-review material.
This month’s fact sheet will review ophthalmologic findings associated with inherited dermatologic conditions. A brief definition or description of the ophthalmologic finding is provided for the target audience who may not be familiar with these terms. This table is not meant to serve as an exhaustive list of all dermatologic conditions with associated ophthalmologic findings but rather a list of high-yield associations for board study and beyond.
Practice Question Answers
1. Which type of EDS is most characteristically associated with blue sclerae and globe rupture?
a. arthrochalasia
,b. classical
c. dermatosparaxis
d. hypermobility
e. kyphoscoliosis
2. Ankyloblepharon may be associated with mutation of which gene?
a. fibrillin 1
b. LMX1B
c. NF1
d. p53
e. p63
3. Which is a characteristic ocular tumor in patients with tuberous sclerosis complex?
a. congenital hypertrophy of retinal pigment epithelium
b. phakoma
c. pigmented iris hamartoma
d. pinguecula
e. pterygium
4. Which syndrome is not associated with blue sclerae?
a. EDS type 6
b. lipoid proteinosis
c. Marfan syndrome
d. osteogenesis imperfecta type II
e. pseudoxanthoma elasticum
5. Which term describes white spots at the periphery of the iris?
a. Brushfield spots
b. coloboma
c. Kayser-Fleischer rings
d. Lester iris
e. Lisch nodules
