Analysis of Inherited Optic Neuropathies.

Lazdinyte, Simona; Schorderet, Daniel F; Schaller, André; Valmaggia, Christophe; Todorova, Margarita G (2019). Analysis of Inherited Optic Neuropathies. Klinische Monatsblätter für Augenheilkunde, 236(4), pp. 451-461. Thieme 10.1055/a-0829-6828

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BACKGROUND

Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of the present study was to determine the genetic condition related to the phenotype in patients with diverse inherited optic neuropathies.

PATIENTS AND METHODS

A retrospective study was performed in 12 adults and 8 children of 8 non-related families. Clinical phenotyping, supported by color fundus, FAF, and OCT imaging, was performed. Genetic testing was obtained for all family members suspected for ION.

RESULTS

Identification of pathogenic mutations in eight non-related families helped to confirm the diagnosis of ION. Affected from ION were ten patients (eight adults and two children; four women and six men). Bilateral Leber's hereditary optic neuropathy (LHON) was linked to the m.11778G>A mutation in two families (two affected and five carriers). Secondary homoplasmic LHON mutations in MT-ND1 (m.4216T>C) and MT-CO3 genes (m.9804G>A) were confirmed in two families (each one subject, three eyes affected), without detection of a primary LHON mutation. One member presented a picture of right-sited optic neuropathy associated with a c.220C>G mutation in the ACO2 gene and a heterozygous c.185C>T mutation in the LDLR gene. Autosomal dominant optic atrophy was confirmed in three non-related families (five subjects with bilateral ION), where molecular genetic analyses confirmed four different heterozygous mutations in OPA1: c.1847+1G>T; c.2497-1G>A, 297A>G and c.(2983+1_2984-1)_(c.*3211) (2 splicing mutations, 1 missense mutation, and 1 gross deletion encompassing exons 30 and 31).

CONCLUSIONS

Combining clinics and molecular genetics when evaluating patients with IONs helps in characterizing disease and, therefore, is strongly recommended for such patients.

Item Type:	Journal Article (Further Contribution)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Human Genetics 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
UniBE Contributor:	Schaller, André
Subjects:	600 Technology > 610 Medicine & health
ISSN:	1439-3999
Publisher:	Thieme
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	10 Feb 2021 18:41
Last Modified:	05 Dec 2022 15:45
Publisher DOI:	10.1055/a-0829-6828
PubMed ID:	30831606
URI:	https://boris.unibe.ch/id/eprint/151286