Multimodal imaging in Schubert-Bornschein congenital stationary night blindness

Characterizing Retinal Sensitivity and Structure in Congenital Stationary Night Blindness: A Combined Microperimetry and OCT Study

“…However, subtle cellular changes have been observed in mice lacking Lrit3 and Trpm1. 14 , 22 , 23 Several studies have documented the thinning of the inner nuclear layer in cases of cCSNB, as measured by spectral-domain OCT. 24 , 25 This thinning extends to the inner plexiform layer, ganglion cell layer and nerve fiber layer, as observed in Lrit3 − / − mice model. 26 Notably, the pattern of this thinning in cCSNB differs from the changes seen in progressive rod–cone dystrophies.…”

Optical Coherence Tomography Angiography in CRB1-Associated Retinal Dystrophies

“…Interestingly, the severity of the vessel density reduction was similar across the different phenotypical manifestations, which ranged from mere RPE mottling up to large atrophic changes, suggesting that this peripapillary vascular impairment is independent of the stage of the disease. Even though the comparison of the OCTA findings described in other IRDs is hard due to the different pathogenesis of each subform, we have to underline that DCP is always involved, often also showing a correlation with BCVA [12][13][14][15][16][17][18][19][20][21]. Thus, DCP may represent an important biomarker to better characterize the stage of the disease and the extent of functional damage.…”

“…Optical coherence tomography angiography (OCTA) has been used in several IRDs to characterize the vascular anatomy in the macula and to identify vascular patterns associated with a faster progression. In particular, a reduction in vessel density at the level of the deep capillary plexus (DCP) has been described in several IRDs, including Stargardt disease [12], cone dystrophies [13], Best vitelliform macular dystrophy [14], X-linked retinoschisis [15], choroideremia [16], occult macular dystrophy [17], congenital stationary night-blindness [18], retinitis pigmentosa [19,20], and Bietti crystalline dystrophy [21]. This study aimed to describe the OCTA features in eyes affected by CRB1-associated retinal dystrophies, as no prior study has explored the vascular alterations in these disorders.…”