Syphilis is caused by the spirochete Treponema pallidum, and sexual contact is the usual route of transmission. Fetal infection occurs following maternal spirochetemia. The longer the mother has had syphilis, the lower is the risk of transmitting the disease to her child. If a mother has contracted primary or secondary disease, approximately half of her offspring will be infected. In cases of untreated late maternal syphilis, approximately 70% of infants are healthy. The incidence of congenital syphilis in the United States is 15.7 cases per 100,000 live births.
Signs and symptoms of congenital syphilis include unexplained premature birth, large placenta, persistent rhinitis, intractable rash, unexplained jaundice, hepatosplenomegaly, pneumonia, anemia, generalized lymphadenopathy, and metaphyseal abnormalities or periostitis on radiographs. Congenitally acquired infection can lead to neonatal death. Early eye involvement in congenital syphilis is rare.
In some infants, chorioretinitis appears as a salt-and-pepper granularity of the fundus. Pseudoretinitis pigmentosa may follow. In rare cases, anterior uveitis, glaucoma, or both may develop. In other cases, signs and symptoms may not appear until late childhood or adolescence. Widely spaced, peg-shaped teeth; eighth nerve deafness; and interstitial keratitis constitute the Hutchinson triad. Other manifestations include saddle nose, short maxilla, and linear scars around body orifices. Bilateral interstitial keratitis, the classic ophthalmic finding in older children and adults, occurs in approximately 10% of patients.
A diagnosis of congenital syphilis is confirmed by identification of T pallidum by dark-field microscopy or fluorescent antibody testing. The detection of specific immunoglobulin M is currently the most sensitive serologic method.
Congenital syphilis in neonates is treated with intravenous aqueous crystalline penicillin G. Serologic tests are repeated at 2 to 4, 6, and 12 months after the conclusion of treatment, or until results become nonreactive or the titer has decreased fourfold. Persistent positive titers or a positive cerebrospinal fluid VDRL test result at 6 months should prompt retreatment.
Also see BCSC Section 9, Uveitis and Ocular Inflammation.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.