Congenital glaucoma and paradoxical microphthalmos in Neu-Laxova syndrome: a case report
Keywords:
Cataract, congenital, with microcornea or slight microphthalmia, Hydrophthalmos, Microphthalmos, Neu-Laxova syndromeAbstract
Neu-Laxova syndrome (NLS) is characterized by multiple congenital anomalies and distinctive facial features such as proptosis and ectropion. Most NLS cases result in stillbirth or early postnatal death. NLS-associated ocular manifestations have not been widely documented. We report on a case of NLS with unilateral glaucoma and, paradoxically, bilateral microphthalmos and dense cataracts, despite having normal intraocular pressures in the first 3 months of life. At age 1 year, the patient developed glaucoma in the right eye, which was refractory to topical and systemic medications, as well as repeated transscleral cyclophotocoagulation. At age 2 years, the patient underwent definitive lens aspiration and Ahmed glaucoma valve implantation and achieved satisfactory outcomes. We recommend repeated intraocular pressure assessment in patients with NLS, particularly during their first year of life, even when initial measurements are normal. To our knowledge, this is the first reported case of NLS-associated congenital glaucoma with, paradoxically, microphthalmos.
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