FAM161A

Disease Category: autosomal recessive

Patient Population:

Known Clinical Trials:

Check clinicaltrials.gov for updates

Treatment Options: None known

Strategies to Preserve Eye Health:

Institution(s) Conducting Research:

A FACE OF RP

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BRIEF DESCRIPTION

FAM161A is a protein that is a component of the cilia-basal body complex and is involved in microtubule-based cellular processes in the retina. It's expressed mainly in the retina and is localized to the connecting cilium, basal body, and adjacent centriole in mammalian photoreceptors. Mutations in the FAM161A gene cause autosomal recessive RP-28, which is characterized by disorganized cilia, outer segment collapses, and vision impairment.

An eye doctor can diagnose RP with an ophthalmoscope, which involves putting drops in your eyes to widen your pupil so they can examine your retina. There's no cure for RP, but low vision aids, rehabilitation programs, and vitamins and supplements can help.

Defects in FAM161A are a common cause of hereditary blindness in Israel and the Palestinian territories, but are rare in Germany.

IN THE NEWS

Sep 16, 2020

Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations

We aimed to characterize the spectrum of FAM161A-associated phenotypes and identify characteristic clinical features.

Aug 26, 2020

Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2

FAM161A is a microtubule-associated protein conserved widely across eukaryotes, which is mutated in the inherited blinding disease RP28.