Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype-Phenotype Correlation.

PURPOSE: The purpose of this study was to describe the genotypic and phenotypic characteristics of an infant with a SLC4A11 mutation associated with bilateral corneal edema, hearing loss, and hydronephrosis present since birth. METHODS: This was a case report. Ophthalmic and systemic examination of the proband, histopathologic and ultrastructural characteristics of bilateral corneal discs, and molecular genetic evaluation by whole-exome sequencing are described. RESULTS: A male infant was born with bilateral corneal opacities, sensorineural hearing loss, and hydronephrosis to healthy parents after an uneventful pregnancy. Penetrating keratoplasty of the left eye at age 10 months demonstrated minimal corneal edema with normal thickness Descemet membrane and cellular endothelium with intracytoplasmic vacuoles and degenerative changes in rare cells. Penetrating keratoplasty of the right eye 6 months later disclosed prominent corneal edema with a thickened posterior banded layer of Descemet membrane and severe endothelial atrophy. Whole-exome sequencing of the proband and parents' blood demonstrated a homozygous mutation in SLC4A11 gene (c.1735_1737delCTC,p.Leu579del). The combined clinical, histopathologic, and molecular genetic findings raised consideration of an unusual phenotype of Harboyan syndrome manifesting as congenital hereditary endothelial dystrophy with a prelingual rather than, as previously described, postlingual hearing loss. CONCLUSIONS: We report a novel homozygous SLC4A11 variant with a previously undocumented phenotype of CHED in association with prelingual sensorineural hearing loss and hydronephrosis, thus broadening our understanding of the spectrum of genotypic and phenotypic findings of Harboyan syndrome.

Giant Ocular Horn Occurring in a 10-Year-Old Female.

Cutaneous horns uncommonly involve the periocular region. Involvement of the ocular surface is particularly rare. The authors present a patient who underwent a perinatal buccal mucosal graft for corneal perforation due to congenital corneal ectasia, most likely resulting from Peters anomaly. She developed a giant ocular horn 10 years later.

Oncocytoma of the lacrimal gland: case report and review of the literature.

OBJECTIVE: Oncocytomas of the lacrimal gland are rare tumors. We report the eighth case in the literature. DESIGN: Interventional case report and literature review. INTERVENTION: Complete ophthalmologic and systemic examination followed by excisional biopsy and histopathologic examination. RESULTS: A 40-year-old Hispanic woman was evaluated for a right-sided upper eyelid edema and pain on ocular motility. A month earlier an outside ophthalmologist had performed a conjunctival biopsy that disclosed chronic inflammation. Computed tomography and magnetic resonance imaging of brain and orbit demonstrated a right intraorbital extraconal soft tissue density mass that involved the lacrimal gland, upper eyelid and encroached both the superior oblique and superior rectus muscles. Histopathology showed a benign oncocytoma that replaced most of the lacrimal gland. CONCLUSION: Although rare, oncocytomas should be included in the differential diagnosis of any lacrimal gland tumors.