Nanophthalmos: A Review of the Clinical Spectrum and Genetics

Overview

Journal J Ophthalmol

Publisher Wiley

Specialty Ophthalmology

Date 2018 Jun 5

PMID 29862063

Citations 42

Authors

Pedro C Carricondo

Thais Andrade

Lev Prasov

Bernadete M Ayres

Sayoko E Moroi

Affiliations

Soon will be listed here.

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., , , , , and ) 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.

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