Gerard P. Barry

A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings

Purpose: To report a case of a child with Pfeiffer syndrome, unique ocular anterior segment findings and a mutation in FGFR2 (Trp290Cys). Methods: Case Report. Results: We describe a patient with Pfeiffer syndrome with a unique constellation of ocular anterior segment anomalies including microcornea, limbal scleralization, corectopia and glaucoma. Genomic DNA extraction was heterozygous for a G to T mutation at nucleotide 870 of the fibroblast growth factor receptor 2 gene (FGFR2) which changes tryptophan (TGG) to cysteine (TGT) at amino acid position 290 (Trp290Cys). Conclusion: This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye.

Non-invasive Respiratory Support and Severe Retinopathy of Prematurity

The authors describe two premature infants who developed stage 3, zone I retinopathy of prematurity (ROP) with plus disease in both eyes, despite limited exposure to supra-ambient oxygen. Both infants received noninvasive respiratory support for several weeks. Both cases are notable because the ROP was more posterior and aggressive than is typical for the gestational ages or birth weights. These cases are insufficient to make definitive conclusions regarding the factors that cause ROP. Further investigation is required to determine if there is an association between the use of non-invasive respiratory support, even in the absence of supra-ambient oxygen, and severe ROP development. [J Pediatr Ophthalmol Strabismus. 2016;53:e47-e50.].

Leukocoria and vitreous hemorrhage as the initial manifestation of sickle retinopathy in a 3-year, 6-month-old child with sickle trait (AS).

The authors present the youngest reported child with proliferative sickle retinopathy. A 3-year, 6-month-old boy presented with leukocoria in the left eye, left esotropia, and dense free-floating white vitreous cells obscuring the fundus, suspicious for endophytic retinoblastoma. Ultrasonography depicted dense debris in the vitreous with no distinct calcific echo or retinal mass. Transcorneal, transzonular fine-needle aspiration biopsy of the vitreous confirmed the presence of dehemoglobinized vitreous red blood cells without tumor. The opposite eye showed peripheral retinal pigment epithelial proliferation and fibrosis with angiographic peripheral ischemia. Hemoglobin electrophoresis disclosed sickle trait (AS). The findings were classified as proliferative sickle cell retinopathy with vitreous hemorrhage in the left eye and non-proliferative sickle cell retinopathy in the right eye. Leukocoria generally raises warnings for retinoblastoma, but can also reflect chronic vitreous hemorrhage.

Conservative Management of Lower Eyelid Epiblepharon in Children.

PURPOSE Although much literature has focused on various techniques to repair epiblepharon, no study has addressed how frequently surgical intervention is required. METHODS The authors tabulated data from all patients with epiblepharon seen over the past 15 years. RESULTS Eighty-nine patients were included, 61 (69%) with tearing, discharge, conjunctival injection, or eye rubbing. Trichiasis was present in 15 cases (17%), 6 (7%) with corneal staining. In all cases, the initial treatment was conservative: antibiotic ointment or tear substitutes in 73 cases with trichiasis, symptoms of irritation, or corneal changes and observation in the remaining 16 cases. Three children (3%) were referred for eyelid surgery because of persistent symptoms. No patient had corneal scarring or long-term complications. CONCLUSIONS Although vision-threatening complications can result, a trial of topical antibiotic ointment and/or ocular lubricants was effective in nearly all patients. Most resolved with minimal symptoms. The few eventually requiring eyelid surgery suffered no long-term complications. The authors recommend a trial of conservative treatment before eyelid surgery is undertaken. [J Pediatr Ophthalmol Strabismus. 2017;54(1):15-16.].

Episodic Excessive Blinking in Children.

PURPOSE Many children present with excessive blinking. Categorization, associated conditions, and prognosis are controversial. METHODS All children with excessive blinking were reviewed, excluding those with known uveitis, glaucoma, or obvious eyelid abnormalities. Parents were telephoned for follow-up. RESULTS No ocular pathology was identified in 31 of 34 children with excessive blinking (91%). Parents were able to report a specific cause of blinking in 7 (21%). In 24 of 34 (71%), parents reported complete resolution of excessive blinking. No new ophthalmologic diagnoses were uncovered on follow-up. CONCLUSIONS Episodes of excessive blinking rarely indicate neurologic disorders and frequently resolve spontaneously.