REVIEW   

Minerva Oftalmologica 2019 September-December;61(3-4):42-57

DOI: 10.23736/S0026-4903.19.01837-3

Copyright © 2019 EDIZIONI MINERVA MEDICA

lingua: Inglese

Nanophthalmos: a systematic review of the clinical spectrum of nanophthalmos, its genetic basis, prevalence, incidence, clinical and surgical management

Pedro C. CARRICONDO, Lucca O. HANSEN ✉

Department of Ophthalmology, Hospital das Clínicas da Universidade de São Paulo, Faculty of Medicine, University of São Paulo, São Paulo, Brazil

INTRODUCTION: Nanophthalmos is a clinical spectrum of diseases characterized by small eyes which present a set of diagnostic, surgical, and clinical challenges. The clinical spectrum of nanophthalmos and microphthalmos is broad, as are the underlying genetic basis of the diseases.
EVIDENCE ACQUISITION: A systematic review of nanophthalmos, including its definition, prevalence, incidence, clinical spectrum, surgical and medical management, and genetics. Searches using MeSH terms of the PubMed/Medline databases were performed of the last twenty years and the results reviewed. Both authors agreed on the final reference list and then reviewed in full all articles in English.
EVIDENCE SYNTHESIS: The article was written with the intent to offer a comprehensive and didactic updated review of the theme. Diverse novel genes, surgical techniques, clinical presentations, imaging techniques, associated diseases, syndromes, and eye features are hereby described.
CONCLUSIONS: Proper diagnosis, genetical counseling, pathophysiological understanding, genetical research, clinical management and adequate surgical interventions are key to proper management of nanophthalmos.

KEY WORDS: Microphthalmos; Genetics; Operative surgical procedures; Prevalence; Incidence; Epidemiology