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Abstract #106296 Published in IGR 23-3
A family with nanophthalmos caused by a TMEM98 gene variant
Yu XW; Shi Y; Gao Y; Fan ZGChinese Journal of Ophthalmology 2022; 58: 932-935
A family with nanophthalmos was genetically investigated. The proband of this family was a 34-year-old male, who was diagnosed as binocular glaucoma two years ago and was admitted to Beijing Tongren Eye Center due to impaired vision in his right eye for 2 months. The intraocular pressure was controlled with two anti-glaucoma medications, the range of the angle closure was>300 degrees, and the cup-disk ratio was significantly increased in both eyes. The axial length of the right and left eyes was 17.45 mm and 17.36 mm, respectively. A heterozygous missense variant of the TMEM98 gene was detected by gene sequencing (C. 602G>C, P.R201p). Both eyes were diagnosed with nanophthalmos and secondary angle-closure glaucoma. The father of the proband was found to carry a homozygous variant in the same gene, while the daughter of the proband carried the same heterozygous variant as the proband. Both of them were diagnosed as binocular nanophthalmos in combination with clinical manifestations.
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology, Beijing Key Laboratory of Ophthalmology & Visual Sciences, Beijing 100730, China.
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