Heterozygous Mutation in Associated with Early-onset Retinal Dystrophy with Atypical Maculopathy

Overview

Journal Mol Vis

Specialties Cell Biology
Molecular Biology
Ophthalmology

Date 2017 Dec 6

PMID 29204067

Citations 1

Authors

Maram Ea Abdalla-Elsayed

Patrik Schatz

Christine Neuhaus

Arif O Khan

Affiliations

Soon will be listed here.

Abstract

Purpose: Heterozygous mutations in have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in underlying early-onset retinal dystrophy with atypical maculopathy.

Methods: Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes.

Results: A now 17-year-old boy presented 12 years earlier with a history of progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy. He also had bilateral microphthalmos and a slim prepubertal appearance; growth hormone levels were within normal ranges. Next-generation sequencing of a retinal dystrophy gene panel revealed a heterozygous deletion c.485delC (p.Pro162G.Infs*24) in exon 5 of .

Conclusions: This second report of maculopathy associated with a heterozygous mutation in confirms that mutations in should be considered in the differential diagnosis of atypical hereditary maculopathy, with or without rod-cone dystrophy.

Citing Articles

Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.

Markitantova Y, Simirskii V Int J Mol Sci. 2020; 21(5).

PMID: 32111086 PMC: 7084737. DOI: 10.3390/ijms21051602.

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