@article {1598061, title = {A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy}, journal = {Eur J Ophthalmol}, volume = {32}, number = {6}, year = {2022}, month = {2022 Nov}, pages = {NP6-NP9}, abstract = {PURPOSE: To report a case of 16-month-old boy with a novel variant TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy. OBSERVATION: A 16-month-old otherwise healthy boy was referred to Boston Children{\textquoteright}s Hospital for evaluation of strabismus. Ocular examination revealed intermittent esotropia, left hypotropia, and limited left eye elevation in both adduction and abduction. Full cycloplegic hyperopic correction of +3.50 diopters (D) over both eyes was given to the patient. Over several months, refraction of the right eye showed progressive myopia (-6.00 D) with new onset iris heterochromia. Fundus examination showed there was a large area of chorioretinal atrophy with abrupt ending of the blood vessels; anterior to the ora serrata there were diffuse vitreous bands and veils that reached the lens anteriorly in direct contact with the lenticular opacity. A novel heterozygous nonsense likely pathogenic variant was identified in the TSPAN12 gene (NM_012338.3) c.315T\>A (p.Cys105Ter) confirming the diagnosis of FEVR. CONCLUSION AND IMPORTANCE: Asymmetric FEVR rarely present with unilateral axial myopia however association with acquired heterochromia and cataract has never been reported. We report a case of FEVR caused by a novel TSPAN12 likely pathogenic nonsense variant presenting as unilateral progressive myopia, acquired heterochromia, and pediatric cataract.}, keywords = {Cataract, Child, DNA Mutational Analysis, Eye Diseases, Hereditary, Familial Exudative Vitreoretinopathies, Humans, Infant, Male, Mutation, Mydriatics, Myopia, Degenerative, Pedigree, Retina, Retinal Diseases, Tetraspanins}, issn = {1724-6016}, doi = {10.1177/11206721211027415}, author = {Elhusseiny, Abdelrahman M and Jabroun, Mireille and Rajabi, Farrah and Gonzalez, Efren and Alkharashi, Maan} }