Abstract
Purpose :
Senior Loken syndrome (SLS) is a rare autosomal recessive renal-retinal disease. However, there have been no studies on the ophthalmic characteristics including multimodal retinal findings in Korean SLS patients. This study aimed to review the ophthalmic findings, renal function, and genotypes of Korean SLS cases.
Methods :
A total of eight patients (16 eyes) were analyzed, five patients of which were our cases, and comprehensive ophthalmologic examination, renal function test, and renal ultrasonography were evaluated retrospectively. Previous reported Korean SLS three cases with genetic workup and their characteristic data were collected through PubMed search.
Results :
A total of eight cases (16 eyes) were included in the analysis. The mean age diagnosed with SLSN was 13.6 ± 2.5 years (range 11 to 18 years). The mean BCVA (logMAR) at last visit was 0.16 ± 0.30 except for previously reported Korean SLS three cases. The NPHP5-related SLS was the most common (62.5%), while NPHP4-related SLS and NPHP1-related SLS accounted for 25% and 12.5%, respectively. At diagnosis, 62.5% had end-stage renal disease, 12.5% had moderate chronic kidney disease, and two individuals with NPHP5 mutations maintained normal renal function. In this study cases, both NPHP5-related SLS and NPHP1-related SLS patients had central within 5 degrees visual fields preserved in both eyes. On the other hand, all NPHP4-related SLS patients had normal visual field and visual acuity of 20/20 or better in both eyes but had moderate or higher chronic kidney disease. The previously reported three cases of Korean SLS were all NPHP5-related SLS with congenital blindness due to Leber congenital amaurosis. But, interestingly in our cases, all had good visual acuity. In addition, except for the two NPHP4-related SLS patients who showed normal retinal findings, NPHP1 and NPHP5-related SLS showed retinal pigmentosa sine pigmento finding in the wide fundus photograph, while perifoveal and peripapillary hypo autofluorescence with a hyper autofluorescent bull's eye-like ring was shown on the autofluorescence fundus photograph.
Conclusions :
The manifestation of retinal and ocular impairment demonstrated heterogeneity among Korean patients with SLS. For accurate genetic and clinical diagnosis, it is crucial to consider the potential variability in organ involvement.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.