Background

Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS.

Materials and Methods

Physical and complete ophthalmic examination, molecular diagnosis.

Results

Over nine years of follow-up, the subject manifested progressive signs and symptoms of KSS, including external ophthalmoplegia/strabismus, ptosis, pigmentary retinopathy, corneal edema, Type I diabetes mellitus, gut dysmotility, sensorineural deafness and heart block. At age 21 he was incidentally found to have retinoschisis on optical coherence tomography that remained stable over three years follow-up. Sequencing of the RS1 gene revealed no pathogenic variants, effectively ruling out co-existing X-linked retinoschisis.

Conclusions

These findings suggest retinoschisis may be a rare manifestation of KSS. A trial of a carbonic anhydrase inhibitor was frustrated by coexisting corneal edema associated with the condition.

中文翻译：

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与 Kearns-Sayre 综合征相关的视网膜劈裂症。

背景

Kearns-Sayre 综合征 (KSS) 的特征是色素性视网膜病变、外眼肌麻痹和心脏传导阻滞。我们报告了一名现年 24 岁的男性，患有临床视网膜劈裂症和分子学证实的 KSS。

材料和方法

身体和完整的眼科检查，分子诊断。

结果

在九年的随访中，受试者表现出 KSS 的渐进体征和症状，包括外眼肌麻痹/斜视、上睑下垂、色素性视网膜病变、角膜水肿、I 型糖尿病、肠道运动障碍、感音神经性耳聋和心脏传导阻滞。在 21 岁时，他偶然在光学相干断层扫描中发现视网膜劈裂，并且在三年的随访中保持稳定。RS1基因的测序显示没有致病性变异，有效地排除了共存的 X 连锁视网膜劈裂症。

结论

这些发现表明视网膜劈裂可能是 KSS 的一种罕见表现。碳酸酐酶抑制剂的试验因与该病症相关的共存角膜水肿而受挫。