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Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC.

European journal of ophthalmology - 1 Jan 2024

Zhou Lin, Wang Ganghua, Hu Bin, Jiang Hui, Jiang Fanwen, Xu Zhuping

Abstract excerpt

INTRODUCTION: To report a family with severe ocular disorder caused by double gene variants in causative genes of autosomal dominant cataracts, GJA8 and CRYGC. CASE PRESENTATION: A 5-month-old boy with poor vision and enophthalmos was referred to our hospital. Further ocular examination showed horizontal nystagmus, iris abnormalities with pinpoint pupils, and extreme microphthalmia with axial right and left eye...

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Cataract
Eye Abnormalities
Infant
Microphthalmos

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PMID: 36916241
DOI: 10.1177/11206721231163611

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