Retinocytoma: Clinical and Genetic Characteristics in 16 Pediatric and Adult Cases.

Case reportOcular oncology and pathology· Dec 2025

Retinocytoma: Clinical and Genetic Characteristics in 16 Pediatric and Adult Cases.

Chloé Widehen, Nathalie Cassoux, Denis Malaise … Livia Lumbroso-Le Rouic

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Ocular OncologyCase reportPrognosisQ2IF 1.7

Most retinocytomas appear translucent on retinal exam at diagnosis.

Retinocytoma: Clinical and Genetic Characteristics in 16 Pediatric and Adult Cases.

Chloé Widehen … Livia Lumbroso-Le Rouic

Ocular oncology and pathology · Dec 2025

Background

Retinocytomas are rare benign intraocular tumors that may mimic spontaneously regressed retinoblastoma (Rb).

Methods

This was a retrospective monocentric study of patients with retinocytoma in a French tertiary ocular oncology center, with an inclusion period from January 1999 to January 2024.

87%

Results

87%

translucent tumor appearance seen on retinal exam at diagnosis

More results

Sixteen patients with retinocytoma were identified, and 1,351 Rbs were diagnosed during the same 25-year period.

Age at diagnosis ranged from 11 months to 75 years (mean 28.1 years).

A proportion of lesions were surrounded by atrophy (52%) and/or pigmentation (30%).

More results

None showed malignant transformation during follow-up (mean 79.5 months, median 35.5 months).

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Conclusion · 1 of 2

The presentation of retinocytoma is most often asymptomatic. Thus, diagnosis may be delayed to far later ages than expected with Rb.

Conclusion · 2 of 2

Retinocytoma may be associated with germline pathogenic variants of the RB1 gene, and follow-up is recommended due to rare but possible malignant transformation.

Retinocytoma: Clinical and Genetic Characteristics in 16 Pediatric and Adult Cases.

Retinocytoma: Clinical and Genetic Characteristics in 16 Pediatric and Adult Cases.

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