We report 2 pediatric cases of isolated bilateral congenital lacrimal gland agenesis (CLGA). Patient 1 (1 year of age) and patient 2 (2 years of age) presented with symptoms of alacrimia and were diagnosed with bilateral isolated CLGA based on magnetic resonance imaging. Both patients were otherwise healthy, with no systemic associations. Molecular analysis for genetic causes of CLGA were negative. Both have been successfully medically managed.
Kaveh Vahdani, Geoffrey E. RoseRead More
Extraocular muscle enlargement is a hallmark of thyroid eye disease (TED), typically affecting the rectus muscles. We report a rare case of asymmetrical bilateral inferior oblique enlargement in a patient with probable TED. Although TED is the commonest cause of extraocular muscle enlargement, involvement of the inferior oblique muscle is extremely rare, and all such cases should be investigated for other non-TED etiologies, including inflammatory or neoplastic lesions.
Christopher R. Dermarkarian, Amit Bhatt, Patricia Chévez-Barrios, Richard C. AllenRead More
A 15-year-old boy who presented with a 1-week history of increasing erythema, edema, and tenderness of the right upper and lower eyelids was found to have acquired nasolacrimal duct obstruction (NLDO) secondary to primary amyloidosis. To our knowledge, this is the youngest case of bilateral NLDO secondary to primary amyloidosis (biopsy proven for right NLDO and presumed for left NLDO) reported in the literature. This case highlights the importance of lacrimal sac biopsy in patients with acquired NLDO of unclear etiology. Given the prevalence of the primary amyloidosis subtype in cases of ocular or adnexal amyloidosis, patients should undergo immediate workup for systemic disease.
Diffuse infiltrative retinoblastoma with retinal detachment in “cinnamon-roll” configuration: a case report
David Ancona-Lezama, Lucas A. Garza-Garza, Raul E. Ruiz-Lozano, Carol L. Shields, Luis G. Villagomez-Valdez, Julia O. De-Leija-PortillaRead More
A 4-year-old girl presented with leukocoria, vision loss, and painless left eye redness. Posterior segment examination revealed a total retinal detachment and abnormal, tortuous retinal vessels in the left eye. No visible mass, vitreous seeding, or hemorrhage were observed. B-mode ultrasound showed a detached retina in a “cinnamon-roll” configuration. Due to poor visual prognosis and high clinical suspicion of malignancy, enucleation was performed. Further histopathological analysis confirmed the diagnosis of diffuse infiltrative retinoblastoma, with an atypical presentation.
Jeremy Hatcher, Asha Sarma, Rachel Sobel, Dolly Ann Padovani-ClaudioRead More
We report the case of a 5-year-old boy who presented with a draining cutaneous pit temporal to the lateral canthus, with recurrent periorbital infections. MRI and CT revealed a sinus tract leading from the pit at the skin surface to a 5 mm lesion located in the sphenoid bone near the left sphenofrontal suture. Intraoperative facial nerve monitoring and a lacrimal probe inside the sinus tract were used to guide dissection to the cyst through a minimally invasive temporal approach, without need for neurosurgical intervention.
Jingwen Ding,Yan Xu, Bowei Yuan, Dongmei LiRead More
We report the case of a 5-year-old boy with progressive bilateral blepharospasm and blepharophimosis secondary to Schwartz-Jampel syndrome type 1A. Molecular findings confirmed two novel heterozygous mutations in the HSPG2 gene. After the patient did not respond to a single injection of botulinum toxin, he underwent levator resection combined with orbicularis myectomy of bilateral upper and lower eyelids, with satisfactory aesthetic and functional outcomes.
Mary-Grace R. Reeves, Angeline M. Nguyen, Benjamin P. EricksonRead More
Punctal agenesis and other nasolacrimal abnormalities have been infrequently reported in CHARGE syndrome—a constellation of findings affecting the eyes, heart, choana, and ears—which generally presents at birth. We present a rare case of punctal agenesis with delayed-onset dacryocystocele/lacrimal sac mucocele in a teenager with CHARGE syndrome.
Bruce Bryan BeckerRead More
To investigate the likelihood of surgeons performing lower blepharoplasties having cases of diplopia persisting for more than 1 week after surgery.
An anonymous survey (13 questions) on the frequency and characteristics of persistent diplopia (lasting >1 week) after lower blepharoplasty was sent to members of the American Society of Ophthalmic Plastic and Reconstructive Surgery.
Of 703 members, 371 (52.8%) responded to the survey. Of these, 86 (23.2%) had at least 1 case of persistent diplopia following lower blepharoplasty. Complete data were available for 84 of the 86 physicians. The inferior oblique muscle was involved in 51 cases (61%), the inferior rectus muscle in 7 cases (8%), both the inferior oblique and inferior rectus muscles in 4 cases (5%), and the muscle involved was not identified in 22 patients (26%). The diplopia was paretic in 49 patients (58%) and restrictive in 35 (42%). The diplopia persisted in primary position in 7 patients (8%), in gaze positions other than primary position in 16 patients (19%), and resolved completely in 61 patients (73%).
There is a significant chance of surgeons performing lower blepharoplasties having at least 1 case of diplopia lasting over a week postoperatively. Our survey results indicate that this complication may be more common than is suggested by the medical literature.
Single-triangle versus Fox pentagon frontalis suspension for unilateral severe congenital ptosis correction
Nora Mahmoud, Mohammed,Mahmoud, Ahmed Kamal, Mohammed Ahmed, Abdelhafez,Mostafa, Mohammed DiabRead More
To compare the functional and cosmetic outcomes of two different frontalis sling techniques for correction of severe unilateral congenital ptosis: single triangle and Fox pentagon techniques using expanded polytetrafluoroethylene (ePTFE) suture.
This randomized controlled trial included 60 eyes of 60 patients with severe unilateral simple congenital ptosis and poor levator function (≤4 mm). Participants were randomly assigned for either single triangle or Fox pentagon frontalis suspension using ePTFE suture. Functional outcome measures were margin reflex distance (MRD1), palpebral fissure height (VFH), and lagophthalmos. Cosmetic outcome parameters (lid contour, lid crease, and height symmetry) were graded as 3 (excellent), 2 (good), or 1 (poor), with a minimum of 18 months’ follow-up.
At final follow-up, there was a significant improvement in the MRD1 and VFH in both groups, with no statistical difference ( P = 0.9). Both groups showed comparative cosmetic results regarding lid height symmetry, crease, and contour. The patients in the single-triangle group showed more rapid recovery of postoperative edema and lagopthalmos with less visible forehead scarring. There were no serious ePTFE sling–related complications.
In our study cohort, the single-triangle and Fox pentagon frontalis suspension techniques had similar outcomes with respect to MRD1 and VFH and comparable cosmetic results. However, the single-triangle technique avoids two forehead incisions and was associated with less postoperative edema, lagophthalmos, and scarring.
Mariam S. Hamid, Daniel W. Steen, Adrian H. Ormsby, Xihui Lin, Kim H. LeRead More
A 5-year-old boy presented with unilateral, focal superonasal conjunctival injection in the absence of vision changes or trauma. He was treated with a topical steroid for possible phlyctenule or episcleritis, but the lesion progressed to an elevated nodule, raising concern for nodular scleritis with no evidence of posterior involvement. Systemic work-up for underlying inflammatory conditions was unremarkable. There was some improvement in the level of injection with topical steroid, topical fluoroquinolone, and oral nonsteroidal anti-inflammatory drugs, but the nodular lesion persisted. Excisional biopsy revealed an inflamed dermoid cyst in the sub-Tenon’s space.