Clinical and genetic features of retinoschisis in 120 families with mutations.

BACKGROUND/AIMS: X-linked retinoschisis (XLRS), associated with , is the most common type of X-linked retinopathy in children. This study aimed to identify clinical and genetic features of retinoschisis in 120 families with variants in China.

METHODS

variants were collected from our in-house exome data and were predicted by multiple-step bioinformatics analysis. Clinical data of 122 patients from 120 families with potential pathogenic variants were analysed and summarised, respectively.

RESULT

Totally, 79 hemizygous variants (53 missense, 25 truncation and 1 indel), were detected. All except one (78/79, 98.7%), including 22 novels, were classified as potential pathogenic and detected exclusively in 120 families with retinoschisis. Clinical data demonstrated an average age of presentation at 5 years (1 month-41 years). Macular changes were classified as macular schisis (87.5%), macular atrophy (10.7%), normal (0.9%) and unclassified (0.9%). Patients with macular atrophy had older age but similar visual acuity compared with macular schisis. Peripheral retinal changes included flat retinoschisis (52.4%), bullous retinoschisis (BRS) (10.7%) and normal-like (36.9%) patients. Spontaneous regression was observed in two patients with BRS on follow-up examination. Visual acuity in the peripheral retinoschisis group was worse than that without peripheral retinoschisis.

CONCLUSION

Almost all rare variants were potential pathogenic. All patients with pathogenic variants showed detectable characteristics in the macula and/or peripheral retina. Our data on variants and associated clinical phenotypes may be of value for clinical diagnosis and genetic test of retinoschisis.