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Bilateral Exotropic Duane Syndrome A healthy 5-year-old male presented with an outward deviation of both eyes since approximately 4 months of age. Motility testing was notable for significant limitation to adduction in both eyes, significant downshoot in the right eye and downshoot and upshoot in t…

Branchio-Oculo-Facial Syndrome and Coloboma A young child presented with light perception visual acuity in the right eye and white cataract. Some dysmorphic features were also documented such as wide nasal tip, prominent philtral pillars, hypertelorism, telecanthus, right ptosis, and malformed pinn…

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.

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…

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…

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 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…

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…

Coloboma associated with a systemic syndrome.

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 …

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…

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…

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…

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…

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…

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 …

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…

Oculocutaneous Albinism A 12-year-old female with a history of OCA was referred to the retina clinic for evaluation. She had no significant family history. Best corrected visual acuity was 20/80 in the right eye and 20/70 in the left eye. On exam she was noted to have nystagmus and a small angle in…

Optic Disc Drusen with Structural and Functional Changes A young child presented with crossing of the eyes without headaches or associated neurologic symptoms. Visual acuity was OD 20/30 and OS 20/40. Motility examination demonstrated moderate angle esotropia with full versions. Intraocular pressur…