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A. Thangappan, K. Hartzell MD, C. L. Shields MD, P. Valente MD, C. Pirondini MD, J. A. Shields MD; Combined Hamartoma of the Retina and Retinal Pigment Epithelium in 77 Consecutive Patients. Invest. Ophthalmol. Vis. Sci. 2009;50(13):5230.
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To evaluate clinical characteristics and visual outcomes.
Of 77 patients, the mean age at presentation was 12 years. The majority were Caucasian(91%) and male(68%). Referring diagnosis was correct in 25% of cases. Incorrect diagnoses included melanoma (8%), nevus (6%), and retinoblastoma (5%). The most common presenting symptom was decreased visual acuity (32%). The mean tumor thickness was 2mm and base 8mm. The visual acuity decreased from initial visit (macular tumor 20/320, extramacular tumor 20/80) to 10-year follow-up (macular tumor 20/2000, extramacular tumor 20/100).
Combined hamartoma is often misdiagnosed. Progressive visual loss is common, particularly with macular tumors.
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