The Ophthalmologic Manifestations of the Cardio-Facio-Cutaneous Syndrome

Abstract

The cardio-facio-cutaneous (CFC) syndrome is an uncommon multiple congenital anomalies/mental retardation syndrome whose major manifestations are congenital heart defects, relative macrocephaly, stunted growth, ectodermal dysplasia, characteristic facial appearance, and psychomotor developmental delay. All described cases were sporadic and cytogenetically normal. We report three additional patients with this diagnosis. All three patients developed strabismus, requiring extraocular muscle surgery. Two of our patients also had nystagmus. Combining the 18 previously reported cases with our additional 3, 9 of 21 had strabismus, 10 of 21 had ptosis, and 6 of 21 had nystagmus. Ophthalmic craniofacial abnormalities of hypoplastic supraorbital ridges, prominent epicanthal folds, and antimongoloid slant of the palpebral fissures were also common features contributing to the characteristic facies described for this syndrome. The ophthalmologist could aid in the diagnosis and treatment of these patients because of the prominent ophthalmologic symptomatology of the CFC syndrome.

Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation

“…T A B L E 1 Detailed description of ocular findings in each patient from the study population. (Continues) (Dentici et al, 2009;Young et al, 1993). Refractive errors, nystagmus, optic nerve hypoplasia, and optic nerve pallor, have also been described (Yoon et al, 2007).…”

“…Even though ocular manifestations in CFCS occur in the majority of individuals (Pierpont et al, 2014), no systematic studies about visual function in this condition are available. According to previously published case reports, functional abnormalities such as ptosis, strabismus often requiring surgical treatment, and photophobia (Narumi et al, 2007) might occur as well as sporadic cases of cortical blindness (Dentici et al, 2009; Young et al, 1993). Refractive errors, nystagmus, optic nerve hypoplasia, and optic nerve pallor, have also been described (Yoon et al, 2007).…”

“…Distinctive features include extraocular ophthalmic manifestations, such as hypoplastic supraorbital ridges, prominent epicanthal folds, and down‐slanting of the palpebral fissures. Functional abnormalities such as strabismus and ptosis are reported in almost half of the cases of individuals with CFCS, often requiring surgical treatment (Young et al, 1993).…”