DHDDS

A Face of RPtbdtbd

Disease Category: autosomal recessive
Patient Population: —
Clinical Trials: None known
Institution(s) Conducting Research: UAB, SUNY-Buffalo and the Polish Academy of Sciences

Where things stand · Treatment

Treatment options

None known

Where things stand · Clinical trials

Studies that may be relevant to review

Check current clinical trials for this gene — the Finder pulls live studies from ClinicalTrials.gov.

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Brief description

A clear, everyday-language overview of this gene.

DHDDS-related retinitis pigmentosa (RP) 59 is a rare genetic disorder that causes the retina to degenerate. DHDDS stands for dehydrodolichyl diphosphate synthase, a gene that encodes a subunit of the enzyme cis-prenyltransferase (CPT). CPT is required for the synthesis of dolichol, which is a protein glycosylation cofactor. RP59 is caused by a recessive mutation in the DHDDS gene, which changes the 42nd amino acid of the DHDDS enzyme from lysine to glutamic acid. This change is known as a K42E point mutation. RP59 causes the rod cells in the retina to break down first, which typically leads to loss of night vision in childhood. As the disease progresses, blind spots develop in peripheral vision, which eventually merge to create tunnel vision. Finally, central vision gradually declines. RP59 affects one in 100 Ashkenazi Jewish people and one in 2,009 people worldwide. At present, there is no cure for RP, but medications can help treat complications. A medical professional can diagnose and manage RP to improve symptoms.

Support, accessibility and family guidance(the same for every gene)

This guidance applies to anyone living with an inherited retinal condition, whichever gene is involved. Anything specific to this gene is in the section above.

Ask before helping: People differ widely in what assistance they want, and it changes by task and by day. Asking first respects that, and avoids help that gets in the way.
Low-vision rehabilitation: Low-vision specialists work on practical skills and tools for the sight someone has — lighting, contrast, magnification, orientation and mobility.
Accessible technology: Screen readers, magnification, high-contrast modes and voice control are built into phones and computers. Small settings changes often help sooner than new equipment.
School and work: Accommodations are often available well before vision loss is severe. Starting the conversation early usually makes it easier.
Emotional and community support: A genetic result affects the whole family. Connecting with others living with RP helps people feel less alone with it.
Genetic counselling: A genetic counsellor can explain what a result means for relatives, and what testing options exist, without anyone being pushed into a decision.

Last reviewed: not yet reviewedReviewer: —

Medical disclaimer: This page is for education and navigation only — not medical advice, diagnosis, or treatment. These summaries are paraphrases of published research; always confirm details with a qualified clinician and primary sources.