RLBP1-related retinopathy

MONDO:0100444

A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.

Also known as: RLBP1 retinopathy, Bothnia retinal dystrophy, NFRCD, Newfoundland ROD-cone dystrophy, Newfoundland rod-cone dystrophy, RLBP1 cone-rod dystrophy, Vasterbotten dystrophy, Västerbotten dystrophy

28 clinical trials for this condition and its sub-types, 2 tagged with RLBP1-related retinopathy itself.

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Where it sits in the disease tree

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↑ Inherited retinal dystrophy (513)

Sub-types of RLBP1-related retinopathy

Fundus albipunctatus 1 trial
1 sub-type
- Retinitis punctata albescens 1 trial
Bothnia retinal dystrophy 0 trials
Newfoundland cone-rod dystrophy 0 trials

Including sub-types (28) Tagged with RLBP1-related retinopathy (2)

Trials to join now! 1 Completed 1

Experimental gene injection aims to save sight in rare retinal disorder

Disease control Recruiting now

This early-phase trial tests a gene therapy called PUMCH-E111 for a rare inherited retinal disease caused by RLBP1 mutations. Six adults aged 18-55 will receive a single injection into the eye at a low or high dose. The main goal is to check safety, but researchers will also meas…

Early phase 1 • Sponsor: Peking Union Medical College Hospital • Aim: Disease control

Last updated Jun 27, 2026 14:00 UTC

RLBP1-related retinopathy

Where it sits in the disease tree

Experimental gene injection aims to save sight in rare retinal disorder