Retinal vasoproliferative tumors in pediatric retinal dystrophies.
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This case series documents retinal vasoproliferative tumors (RVPTs) in 3 unrelated girls (14, 14, and 13 years of age) with different genetically confirmed autosomal recessive retinal dystrophies (related to CEP290, ABCA4, and MYO7A). The CEP290-related and ABCA4-related cases were both unilateral right eye lesions (inferotemporal unifocal and temporal bifocal, respectively) that were detected years after the retinal dystrophy diagnoses (Joubert syndrome and Stargardt disease, respectively) and remained asymptomatic and stable over 1 year observation. The MYO7A-related case was a left eye inferotemporal unifocal RVPT that was discovered after the child presented with left eye pain related to neovascular glaucoma in that eye in the context of exudative retinal detachment from the RVPT. She was subsequently diagnosed with Usher syndrome and later developed a RVPT in the right eye. Identification, follow-up, and appropriate management of RVPTs in children is important because some lesions have to potential to cause exudative retinal detachment with neovascular glaucoma.