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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…

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…

C2orf71 Retinitis Pigmentosa A patient presents to the neuro-ophthalmology clinic for evaluation of chronic progressive vision loss over many years. There is high suspicion for a genetic disorder given findings of bilateral symmetric nerve pallor, diffuse chorioretinal atrophy, and attenuated vascu…

Microcephaly with or without Chorioretinopathy, Lymphedema or Intellectual Disability (MCLID) This patient with past medical history of microcephaly, lymphedema and mild cognitive delay, was referred for retinal evaluation. Ophthalmological evaluation was notable for hyperopia and extramacular pigm…