关键词: Angle-closure disease Nanophthalmos Optic disc drusen Optic disc pit

Mesh : Female Humans Middle Aged Microphthalmos / complications diagnosis Optic Disk Glaucoma, Angle-Closure / complications diagnosis Macular Edema Eye Abnormalities / complications diagnosis Retinitis Pigmentosa / complications diagnosis Membrane Proteins

来  源:   DOI:10.1186/s12886-023-03132-8   PDF(Pubmed)

Abstract:
BACKGROUND: Microophthalmos or \'dwarf eye\' is characterized by an axial length 2 standard deviation less than age-matched controls. It is classified into nanophthalmos, relative anterior microphthalmos, and posterior microphthalmos based on the anterior segment: posterior segment ratio. Nanophthalmos can occur in association with optic disc drusen, foveoschisis, and retinitis pigmentosa, as an autosomal recessive syndrome linked to mutations in the MFRP gene. We report a case of bilateral nanophthalmos and pigmentary retinopathy with angle closure glaucoma and optic disc pit in one eye. We believe this to be the first case presenting with optic disc pit in association with nanophthalmos.
METHODS: A 56-year-old female presented with bilateral small eyes, high hypermetropia, shallow anterior chamber depth, increased lens thickness, mid-peripheral retinal flecks, and macular edema. She also had high intraocular pressure in the right eye, with a disc cupping of 0.9 with an Optic disc pit. The macular edema in the right eye was found to occur in association with the Optic disc pit, whereas, in the left eye, it was associated with intra-retinal hemorrhages and diagnosed as macular branch retinal vein occlusion secondary to hypertension. She was started on anti-glaucoma medications in both eyes and planned for Anti-VEGF injection in the left eye.
CONCLUSIONS: This case report is unique as it reports an association of Nanophthalmos with Optic Disc pit, with an associated angle closure glaucoma in the same eye, an association which has never been previously reported in the literature.
摘要:
背景:微眼或“侏儒眼”的特征是眼轴长度比年龄匹配的对照组小2个标准偏差。它被分类为纳米眼球,相对前小眼,和基于前段:后段比例的后小眼。纳米眼球可与视盘玻璃疣相关,Foveoschisis,视网膜色素变性,作为与MFRP基因突变相关的常染色体隐性遗传综合征。我们报告了一只眼睛的双侧纳米眼球和色素性视网膜病变伴闭角型青光眼和视盘凹陷的病例。我们认为这是第一例与纳眼有关的视盘坑。
方法:一名56岁女性,双侧小眼睛,高远视眼,浅前房深度,增加透镜厚度,中间周边视网膜斑点,和黄斑水肿。她的右眼也有高眼压,带视盘坑的椎间盘拔罐为0.9。发现右眼黄斑水肿与视盘凹陷有关,然而,在左眼,它与视网膜内出血相关,并被诊断为高血压继发的黄斑分支视网膜静脉阻塞.她开始在双眼中使用抗青光眼药物,并计划在左眼中注射抗VEGF。
结论:该病例报告是独特的,因为它报告了纳米眼与视盘凹陷的关联,同一只眼睛的闭角型青光眼,以前在文献中从未报道过的协会。
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