Hereditary eye diseases

Many ocular diseases are hereditary and, like hearing disorders, usually exhibit broad genetic heterogeneity, i.e., they can be caused by pathogenic variants in many different genes. This applies in particular to retinal dystrophies: Variants in more than 200 genes cause non-syndromic Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), cone-rod and macular dystrophies (CRD, MD), congenital stationary night blindness (CSNB) as well as further syndromes in which retinal involvement is only part of the overall clinical picture. Nystagmus, cataracts, ocular albinism, anophthalmia and microphthalmia, retinal detachments, and optic atrophy may also be hereditary (again, with many genes involved).

As with other genetic disorders, knowledge of the causative genetic variant is essential for individualized care and counselling of patients and their families. In addition, the first gene therapies have been officially approved or are being tested in clinical trials. A variety of therapeutic approaches now exists, often gene-specific (especially gene (replacement) therapies for autosomal recessive retinal dystrophies), but in some cases also tailored to certain relatively common variants or mutation types.

Why Bioscientia?

Collaborations: We work closely with various patient organizations and specialized university centers.

Diagnostics: We use the most modern methods of high-throughput sequencing and genomic structural analysis to uncover even complex causes of hereditary eye diseases.

Research: We have been active in human genetic research on hereditary eye diseases for more than 25 years. We identified new genes for isolated and syndromic eye diseases (see below, Publications). For example, the identification of the first patients with a taurine transporter defect (SLC6A6) provided a non-invasive therapeutic approach beyond gene therapy. Recently, a rare form of RP due to CEP162 variants was identified, which expanded our understanding of the most common inherited retinal degeneration type through detailed functional characterization.

Links:

- RetNet, Overview of known retinal dystrophy genes

- German Society for Human Genetics, GfH, about our diagnostic and research focus

- Clinical studies

- PRO RETINA: Patient association for people with retinal diseases, including patient register

- Living with Usher syndrome e.V., LmU

Publications

• Identification of CEP162 mutations as a cause of late-onset RP; PMID: 36862503
• Identification of SLC6A6 mutations as a cause of early-onset retinal dystrophy; PMID: 31345061
• Identification of POC1B mutations as a cause of a severe retinal ciliopathy; PMID: 25044745
• Identification of the retinal modifier and digenic Usher syndrome gene PDZD7; PMID: 20440071
• Identification of the gene for Usher syndrome type 1D (USH1D); PMID: 11138009
• Identification of the gene for Usher syndrome type 2D (USH2D); PMID: 17171570