Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome – A case report and review of literature

Childhood glaucoma is a heterogeneous group of ocular disorders defined by an age of onset from birth to 18 years. These vision‐threatening disorders require early diagnosis, timely treatment, and lifelong management to maintain vision and minimise irreversible blindness. The genetics of childhood glaucoma is complex with both phenotypic and genetic heterogeneity. The purpose of this review is to summarise the different types of childhood glaucoma and their genetic architecture to aid in the genetic counselling process with patients and their families. We provide an overview of associated syndromes and discuss implications for genetic counselling, including genetic testing strategies, cascade genetic testing, and reproductive options.

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Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome – A case report and review of literature

Cited by 2 publications

References 21 publications

Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome

Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome

Childhood glaucoma: Implications for genetic counselling

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