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Ocular Neuromyotonia A child with a history of left exotropia secondary to a congenital third nerve palsy treated with strabismus surgery and ptosis repair presented with sudden onset intermittent left upper lid twitching and involuntary eye movements. Patient had no previous history of intracrania…

Marfan Syndrome with Ectopia Lentis A young child presented to the ophthalmology clinic with blurry vision. Slit lamp examination was notable for superotemporally subluxed lenses in both eyes, along with a tall slender body frame. Due to these findings, the patient was referred to a geneticist and …

Knobloch Syndrome An infant presented to the eye clinic with nystagmus. The patient underwent examination. Initial eye examination revealed horizontal nystagmus, a midline occipital scalp lesion, hypoplastic macula in both eyes, and high myopia (greater than -15.0 D in both eyes). Given a family hi…

Juvenile X-linked Retinoschisis A pediatric patient with a past medical history of Kawasaki disease presents for retinal evaluation of reported vitreous hemorrhage in the right eye and retinal detachment in the left eye. The visual acuity was 20/200 in the right eye and 20/800 in the left eye. The …

Juvenile Myasthenia Gravis A child previously healthy, presented to the ED with his mother for new onset right upper eyelid ptosis of few weeks duration. History was significant for variability in eye alignment over the past few months. Exam was notable for right upper eyelid ptosis with MRD1 of -2…

Iatrogenic Medial Rectus Transection Patient presented with acute onset binocular horizontal diplopia and an incomitant left exotropia with severe, but not complete adduction deficit. On orbital imaging, the medial rectus appeared to be completely transected, however the patient maintained some add…

Hermansky-Pudlak Syndrome An infant was brought to the emergency department by his mother referred from his pediatrician after a routine well-child visit. Parents had noticed severe light sensitivity, but patient was otherwise developing well. Patient grimaced to light in both eyes but had poor fix…

Heavy Eye Syndrome/Adult Onset Esotropia Secondary to High Axial Myopia A patient with history of amblyopia right eye, and no previous ocular surgery or childhood strabismus presents with large angle esotropia and hypotropia. Exam was notable for hand movements vision in the right eye and 20/20 in …

Familial Exudative Vitreoretinopathy and Retinopathy of Prematurity An infant underwent ophthalmic examination. Born at 32 weeks, the infant weighed 680 grams and received high-flow nasal cannula for respiratory distress of the newborn. Dilated fundus examination of the right eye revealed periphera…

Familial Exudative Vitreoretinopathy A child with a history of full-term birth complicated by arrest of descent and resolved neonatal seizure with normal MRI and EEG was referred for evaluation of nystagmus. An examination under anesthesia was required, during which an electroretinogram demonstrate…

Esotropic Duane Retraction Syndrome, Right Eye An adult patient was referred to our service for strabismus evaluation due to crossing of the eyes. Patient complained of having difficulty looking towards the right side, which had occurred since childhood. The patient also reported moderate to severe…

Combined Hamartoma of the Retina and Retinal Pigment Epithelium A 19-month-old girl with an unremarkable prenatal and infantile history presented with esotropia of the left eye and was found to have a vascularized mass concerning for retinoblastoma. Examination under anesthesia revealed a charcoal …

Coloboma associated with a systemic syndrome.

Coats' Plus Disease An infant born prematurely via emergency cesarean section at 27-weeks due to IUGR and fetal distress weighting 650 g was referred for the evaluation of incomplete vascularization of the retina. After birth, the patient spent 117 days in the neonatal intensive care unit (NICU), w…

Coats' Disease with Secondary Pseudoangiomatous Acquired Retinal Gliosis A healthy 6-year-old female was referred after she failed her school vision screening in the right eye. Exam revealed a visual acuity of count fingers (CF) at 1 foot in the right eye. Slit lamp examination was unremarkable. Fu…

RetCam photo with a bullous exudative retinal detachment. Angiography shows area of engorged vessels, telangiectasias and neovascularization. Ultrasound with moderate dense vitreous opacities and no calcifications. Surgery with external drainage was required for treatment.

Coats Disease An infant presented with suspected retinoblastoma after undergoing an exam under anesthesia (EUA) with an outside provider. On repeat exam under anesthesia, there were no mass lesions identified on indirect exam or ultrasound. Indirect exam revealed powdery yellow exudative changes an…

Chronic External Progressive Ophthalmoplegia A 36-years-old female patient presents to pediatric ophthalmology clinic at BPEI for a second opinion regarding progressive bilateral ptosis and exotropia. The patient has a history of progressive bilateral ptosis OS>OD and limitation of ocular moveme…

Brown Syndrome A patient was diagnosed with thyroid eye disease (TED) 2 years before presenting to our clinic. He complained of horizontal and vertical diplopia. The diplopia was constant and affected distance vision only. The patient was previously treated with teprotumumab. His exam was notable f…

Patient with Brown Syndrome with images and videos showing for esotropia which was worse in left gaze, hypotropia of left eye worse in right gaze and upgaze accompanied by limited elevation OS in adduction and incyclotorsion left eye, and restriction of extraocular movement of both eyes.