Clinical features of syndromic microphthalmia in two novel RARB variants

Human Genome Variation 2026 Open access

Read full text
Authors: Yoshito Koyanagi, Hazuki Morikawa-Anzai, Tomoyo Yoshida, Makiko Tominaga, Yuichi Abe, Rika Kosaki, Keiko Matsubara, Maki Fukami, Sachiko Nishina
DOI: 10.1038/s41439-026-00345-3
Cited by: 1
References: 13

Abstract

Here we describe unrelated Japanese patients with distinct novel heterozygous retinoic acid receptor beta (RARB) gene variants underlying syndromic microphthalmia-12: case 1 with a frameshift variant, c.1205_1206del, had bilateral microphthalmia, corneal opacity, anterior segment dysgenesis, widespread multiorgan anomalies, hypotonia and cognitive impairment; case 2 with a missense variant, c.844G>T had Peters anomaly, extreme microphthalmia, spasticity, profound psychomotor delay and refractory epilepsy. These findings highlight the need for RARB testing.

Fields of Study & Subjects

Ocular Disorders and Treatments Biomedical Research and Pathophysiology Retinal Development and Disorders

Publication details

Journal / source
Human Genome Variation
Publisher
Springer Science and Business Media LLC
Volume
13
Issue
1
Publication date
6 April 2026
Language
EN