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Review
. 2020 Oct 2;10(10):779.
doi: 10.3390/diagnostics10100779.

Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

Yasmin Tatour  1 , Tamar Ben-Yosef  1
Affiliations
Review

Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

Yasmin Tatour et al. Diagnostics (Basel). .

Abstract

Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described. Approximately 200 genes are associated with these syndromes. The majority of syndromic IRDs are recessively inherited and rare. Many, although not all, syndromic IRDs can be classified into one of two major disease groups: inborn errors of metabolism and ciliopathies. Besides the retina, the systems and organs most commonly involved in syndromic IRDs are the central nervous system, ophthalmic extra-retinal tissues, ear, skeleton, kidney and the cardiovascular system. Due to the high degree of phenotypic variability and phenotypic overlap found in syndromic IRDs, correct diagnosis based on phenotypic features alone may be challenging and sometimes misleading. Therefore, genetic testing has become the benchmark for the diagnosis and management of patients with these conditions, as it complements the clinical findings and facilitates an accurate clinical diagnosis and treatment.

Keywords: inherited retinal diseases; retina; syndrome.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Systems and organs most commonly involved in syndromic IRDs.
Figure 2
Figure 2
A Venn diagram showing the involvement of syndromic IRD genes in non-syndromic IRD phenotypes. CRD: cone–rod dystrophy; EVR: exudative vitreoretinopathy; LCA: Leber congenital amaurosis; MD: macular dystrophy; PD: pattern dystrophy; RD: retinal dystrophy; RP: retinitis pigmentosa.
See this image and copyright information in PMC

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