Fast Five Quiz: Inherited Retinal Diseases

Raj K. Maturi, MD


March 31, 2023

Syndromic IRD refers to an IRD that results in both ocular and systemic manifestations. Most syndromic IRDs can be broadly classified into two groups: inborn errors of metabolism (IEMs) and ciliopathies, the majority of which are inherited recessively.

Ciliopathies comprise a group of genetic disorders that mainly affect the cilia, which are present in nearly every cell in the body, including photoreceptors. In addition to ocular involvement, ciliopathies often involve the central nervous system, kidney, liver, skeleton, and inner ear.

IEMs present with ocular and neurologic symptoms. Examples of IEMs include congenital disorders of glycosylation, neuronal ceroid lipofuscinosis, mucopolysaccharidoses, and peroxisomal diseases.

Learn more about variants in IRDs.


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