Abstract
Purpose :
Pai syndrome is a rare frontonasal dysplasia characterized by a clinical triad of midline orofacial cleft, cutaneous facial polyps, and pericallosal lipomas. With only 38 cases reported in literature to date, little is known about the ophthalmic manifestations of this disease. We aim to present new and identify previously-reported ocular associations of Pai syndrome.
Methods :
We present a case report and investigation of current literature. Our PubMed search was conducted using the term, "Pai syndrome." Inclusion criteria consisted of description of ocular findings in Pai syndrome. Exclusion criteria included non-English language.
Results :
A 2-month-old female born full-term at normal weight after an uncomplicated pregnancy was evaluated to have a left cleft lip without palate and a left nasal mass. MRI indicated an inter-hemispheric lipoma superior to the corpus callosum. Ophthalmic examination revealed a corneal limbal dermoid and visually-significant pupillary membrane of the left eye. Surgical excision of the corneal dermoid was performed with confirmatory pathology. Pupilloplasty was done to enlarge the pupil to prevent amblyopia. Family history is non-contributory. Genetic work-up showed a normal karyotype and a 1.071 Mb duplication at 4q35.5—classified as a benign copy number variant. Our literature search yielded case reports of Pai syndrome which have described several ocular findings: conjunctival lipoma, corneal leukoma, microcornea, persistent pupillary membrane extending across the pupil, heterochromia of the iris, iris coloboma, posterior lenticonus, hypopigmented fundi, and peripapillary pigmentation. Our patient is the first of published Pai syndrome cases to present with combined ocular findings of corneal limbal dermoid and visually-significant pupillary membrane.
Conclusions :
Our patient’s ocular abnormalities underscore the phenotypic spectrum of Pai syndrome. Patients with ophthalmic findings of Pai syndrome may need medical and/or surgical management to prevent amblyopia. Ophthalmological evaluation and further research are warranted to understand the ocular manifestations of this rare syndrome.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.