Nanophthalmos: A Review of the Clinical Spectrum and Genetics

Pedro C Carricondo, Thais Andrade, Lev Prasov, Bernadete M Ayres, Sayoko E Moroi, Pedro C Carricondo, Thais Andrade, Lev Prasov, Bernadete M Ayres, Sayoko E Moroi

Abstract

Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e., MFRP, TMEM98, PRSS56, BEST1, and CRB1) and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.

Figures

Figure 1
Figure 1
Typical ultrasonographic and retinal features of nanophthalmos. (a–c) B-scan ultrasounds showing features of nanophthalmos including short axial length, thickened sclera, and choroid (a), serous retinal detachment (b), and choroidal effusion (c). (d–f) Ultrasound biomicroscopy in a nanophthalmic eyes showing shallow anterior chamber (d), angle closure (e), and anterior rotation of the lens-iris diaphragm (f). (g) Heidelberg Spectralis OCT showing prominent choroidal and retinal folds in a small eye. (h) Zeiss Cirrus OCT showing foveoschisis and choroidal folds in a nanophthalmic eye. (i) Fundus photos in a patient with nanophthalmos and optic disc drusen, showing chorioretinal folds and crowded disc with mild vascular tortuousity.

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