Genetic counselling and gene analysis in patients with hereditary ocular diseases

Abstract

Purpose. Non-syndromic hereditary ocular diseases can lead to severe functional limitations of vision at all ages. Therefore, molecular genetic research into the causes of hereditary ocular diseases is of paramount importance. Due to the increasingly optimised pathophysiologically adapted treatments and gene therapy options, a rapid determination of the genetic cause of hereditary ocular diseases is neces- sary, also to increase the chances of treatment at early stages of the disease. In this context, the authors retrospectively analysed the database of the “rare diseases” consultation hour of the PraxisKlinik Augenärzte Halle, which has been in existence since 2016, for patients with a suspected hereditary ophthalmological disease after molecular genetic diagnostics, counselling and therapy options. Material and Methods. 367 index patients were treated dur- ing the period under consideration. In 221 (60.2 %) of them, the molecular genetic cause of the underlying disease could be found. In addition to a large group of patients with cor- neal dystrophies (304 patients, detection rate 61.2 %), we treated 23 index patients with hereditary retinal diseases (detection rate 69.6 %), 28 index patients with complex mal- formations (detection rate 50 %) and 15 index patients with optic atrophies (detection rate 33.4 %). In addition to the ophthalmological-clinical examination and diagnostics, ge- nealogical analysis and molecular genetic testing were always performed. Results. On the basis of 3 case studies with a molecularly ge- netically proven hereditary retinal disease (X-linked recessive inherited juvenile retinoschisis, hemizygous missense muta- tion in the RS1 gene; enhanced S-Cone syndrome, compound heterozygous mutation in the RS2E3 gene; oculocutaneous albinism, homozygous mutation in the TYR gene), the inher- itance, the clinical picture, the course and the therapeutic and rehabilitative options were explained. Conclusion. Ophthalmogenetic counselling and diagnostics in cases of suspected hereditary eye diseases are crucial for a prompt and a sufficient possible therapy and optical reha- bilitation in affected families. Thorough history analysis and diagnostics can optimise the detection rate and provide rapid and sufficient patient care. Keywords hereditary retinal disease, homozygous mutation, ophthal- mogenetics, juvenile retinischisis, oculocutaneous albinism