Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome

M. C. Brodsky, L. D. Keppen, C. D. Rice, J. D. Ranells

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


The Aarskog (facial-digital-genital) syndrome is an X-linked disorder in which short stature is accompanied by hypertelorism, digital anomalies, and shawl scrotum. Except for hypertelorism and blepharoptosis, ophthalmic abnormalities have been rarely noted in this condition. We examined four patients who had Aarskog syndrome and unilaterally or bilaterally decreased vision on initial examination. Three family members had V-pattern esotropia, latent nystagmus, inferior oblique overaction, and amblyopia. A fourth patient had bilateral blepharoptosis and severe astigmatism. Other ocular features included hyperopia, anisometropia, deficient ocular elevation, blue sclerae, and posterior embryotoxon. These findings underscore the need for ophthalmic examination in asymptomatic patients with Aarskog syndrome to rule out treatable causes of visual loss.

Original languageEnglish (US)
Pages (from-to)450-456
Number of pages7
JournalAmerican journal of ophthalmology
Issue number4
StatePublished - 1990

ASJC Scopus subject areas

  • Ophthalmology


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