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.
Highlights
The retina is a multi-layered sensory tissue that lines the back of the eye
We provide a comprehensive summary of the vast majority of syndromic Inherited retinal diseases (IRDs) forms reported to date, for which the underlying gene/s have been identified
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
Summary
The retina is a multi-layered sensory tissue that lines the back of the eye. Its main function is the transduction of light energy into an electrical potential change, via a process known as phototransduction. IRD is one of the most genetically heterogeneous groups of disorders in humans, with over 260 genes identified to date (RetNet at https://sph.uth.edu/retnet/) It can be inherited as autosomal recessive (AR), autosomal dominant (AD) or X-linked (XL). We provide a comprehensive summary of the vast majority of syndromic IRD forms reported to date, for which the underlying gene/s have been identified FTT, microcephaly, ID, neurodegeneration, cardiac, hepatic, gastrointestinal, renal and hematological involvement. FTT, macrocephaly, ID, neurodegeneration, genitourinary, hepatic, respiratory and skeletal involvement. RP, ptosis, corneal clouding coarse facies, HL, skeletal, cardiac, respiratory, hepatic, gastrointestinal and skin involvement. SS, facial anomalies, HL, neurodegeneration, DD, Sideroblastic anemia, immunodeficiency, growth retardation, DD, periodic fever, HL, neurological, cardiac and renal involvement. Skin anomalies, SS, microcephaly, HL, ID, brain structural anomalies, neurodegeneration
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