X-linked Retinitis Pigmentosa (XLRP) accounts for 10–20% of all RP cases, and represents the most severe subtype of this disease. Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) gene are the most common causes of XLRP, accounting for over 70–75% of all XLRP cases. In this work, we analyzed all the exons of RPGR gene with Sanger sequencing in seven Chinese XLRP families, two of these with a provisional diagnosis of adRP but without male-to-male transmission. Three novel deletions (c.2233_34delAG; c.2236_37delGA and c.2403_04delAG) and two known nonsense mutations (c.851C→G and c.2260G→T) were identified in five families. Two novel deletions (c.2233_34delAG and c.2236_37delGA) resulted in the same frame shift (p.E746RfsX22), created similar phenotype in Family 3 and 4. The novel deletion (c.2403_04delAG; p.E802GfsX31) resulted in both XLRP and x-linked cone-rod dystrophy within the male patients of family 5, which suggested the presence of either genetic or environmental modifiers, or both, play a substantial role in disease expression. Genotype-phenotype correlation analysis suggested that (1) both patients and female carriers with mutation in Exon 8 (Family 1) manifest more severe disease than did those with ORF15 mutations (Family 2&3&4); (2) mutation close to downstream of ORF15 (Family 5) demonstrate the early preferential loss of cone function with moderate loss of rod function.

BACKGROUND Choristoma is a rare, benign, congenital proliferative tumor, with osseous choristoma being the rarest. Although the tumor is benign, effective identification is needed for its diagnosis and treatment. Here, we report the diagnosis and successful surgical treatment of two patients with osseous choristoma. CASE SUMMARY Two patients, a young female and young male patient, were found to have a mass on the ocular surface. The tumor presented on the superior temporal bulbar conjunctiva in the first patient and on the upper eyelid in the second patient. Ultrasound biomicroscopy detected a strong echo with clear boundaries covering the lower echo, and computed tomography examination revealed calcification. Both patients underwent surgery, and histopathological evaluation of the mass showed osseous choristoma. They were treated by excision and subsequently cured. CONCLUSION Osseous choristomas are usually asymptomatic. Our patients were cured immediately after surgery, suggesting that surgical treatment is an effective strategy.

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