Mishra Deepak, Ranjan Pratyush, Sinha Bibhuti P, Baijal Vijay, Bhadauria Madhu
Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Sheikhpura, Patna, India.
Eur J Ophthalmol. 2013 Sep-Oct;23(5):776-8. doi: 10.5301/ejo.5000286. Epub 2013 Apr 15.
Retinoblastoma is the most common primary intraocular malignancy of childhood, arising from retinal progenitor cells. The most common presenting feature is leucocoria, followed by strabismus, defective vision, and rarely nystagmus. The unusual associations reported with retinoblastoma are well-differentiated liposarcoma and lipomatous tissues, chromosome breakage syndromes, and the myriad findings of rare 13q deletion syndrome.
Case report.
An 8-year-old boy presented with features of retinoblastoma, having leucocoria in the left eye and an unusual association of postaxial polydactyly in the left hand.
Postaxial polydactyly should be considered as an association of retinoblastoma.
视网膜母细胞瘤是儿童最常见的原发性眼内恶性肿瘤，起源于视网膜祖细胞。最常见的临床表现是白瞳症，其次是斜视、视力缺陷，很少有眼球震颤。视网膜母细胞瘤的异常关联包括高分化脂肪肉瘤和脂肪组织、染色体断裂综合征以及罕见的13q缺失综合征的众多表现。
病例报告。
一名8岁男孩表现出视网膜母细胞瘤的特征，左眼有白瞳症，左手有轴后多指畸形这一异常关联。
轴后多指畸形应被视为视网膜母细胞瘤的一种关联表现。
