top of page




Disease Category: autosomal recessive

Patient Population: <100

Known Clinical Trials: 3 complete studies

Treatment Options: clinical trial of drug intervention

Strategies to Preserve Eye Health: 

Institution(s) Conducting Research: Wilmer Eye Institute, Casey Eye Institute, Hospital for Sick Children, Ophthalmology and Vision Sciences, Montreal Children's Hospital, Moorfield Eye Institute, Rotterdam Ophthalmic Institute, Jules Gonin Eye Hospital, Glostrup Hospital & National Eye Clinic, Scheie Eye Institute, Chicago LightHouse



Georgia U.S.

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

Mays Talib, Mary J van Schooneveld, Roos J. G. van Duuren, Caroline Van Cauwenbergh,  Jacoline B. Ten Brink, Elfride De Baere, Ralph J Florijn, Nicoline E Schalij-Delfos, Bart P. Leroy, Arthur A. Bergen, Camiel J. F. Boon | Translational Vision Science & Technology | Vol 8, 24 | 2019 Aug 19 | 


Purpose: Investigate the natural history in patients with LRAT-associated retinal degenerations (RDs), in the advent of clinical trials testing treatment options.

Conclusions: LRAT-associated phenotypes in this cohort were variable and unusual, but generally milder than those seen in RPE65-associated disease, and may be particularly amenable to treatment. The window of therapeutic opportunity can be extended in patients with a mild phenotype.

A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

Yabin Chen, Li Huang, Xiaodong Jiao, Sheikh Riazuddin, S. Amer Riazuddin & J. Fielding Hetmancik |Human Genomics | 2018 Jul 04 | Vol. 12, Article # 35 |

Background & Purpose: Retinitis pigmentosa is an important cause of severe visual dysfunction. This study reports a novel splicing mutation in the LRAT gene associated with early onset RP and characterizes the effects of this mutation on mRNA splicing and structure.

Method: Genome-wide linkage analysis followed by dideoxy sequencing of the linked candidate gene LRAT was performed in a consanguineous Pakistani family with autosomal recessive RP. In silico prediction and minigene assays were used to investigate the effects of the presumptive splicing mutation.

Safety and Proof-of-Concept Study of Oral QLT091001 in RP Due to Inherited Deficiencies of RPE65 or  LRAT

Hendrik P. N. Scholl, Anthony T. Moore, Robert K. Koenekoop, Yuquan Wen, Gerald A. Fishman, L. Ingeborgh van den Born, Ava Bittner, Kristen Bowles, Emily C. Fletcher, Frederick T. Collison, Gislin Dagnelie, Simona Degli Eposti, Michel Michaelides, David A. Saperstein, Ronald A. Schuchard, Claire Barnes, Wadih Zein, Ditta Zobor, David G. Birch, Janine D. Mendola, Eberhart Zrenner | 2015 |Vol. 10, Issue 12|

Restoring vision in inherited retinal degenerations remains an unmet medical need. In mice exhibiting a genetically engineered block of the visual cycle, vision was recently successfully restored by oral administration of 9-cis-retinyl acetate (QLT091001). Safety and visual outcomes of a once-daily oral dose of 40 mg/m2/day QLT091001 for 7 consecutive days was investigated in an international, multi-center, open-label, proof-of-concept study in 18 patients with RPE65- or LRAT-related retinitis pigmentosa.





bottom of page