Kayser-Fleischer ring a vital contemporary sign and indirect prognostic indicator of infertility
Year: 2024
Type: article
Study design: Case Report
Abstract: Identification of Kayser-Fleischer (KF) ring during ocular examination leads to suspicion of underlying liver disorders affecting copper metabolism, such as Wilson disease, primary biliary cholangitis, neonatal cholestasis, and liver disease. A large subset of young females is also found to have KF ring while undergoing evaluation for infertility. As proven in literature, the KF ring is a pathognomonic sign of Wilson disease and is essential in the diagnosis and follow-up of treatment. However, its presence may not be ascertained without the slit lamp examination.[1] Photo Essay A 24-year-old female undergoing treatment for infertility was diagnosed with polycystic ovarian syndrome (PCOS). During the course of her treatment, she developed tremors and was referred to a neurologist for an opinion. Her MRI brain (T2 FLAIR) revealed hyperintense signals in the bilateral thalamic putamen and dorsal midbrain, suggestive of Wilson’s disease. Her blood investigations, including liver function tests, were within normal limits, except for a lower serum ceruloplasmin level of 14.80 mg/dL (Bio. Ref Interval → 20–60). She was sent to eye OPD for evaluation, and her slit lamp examination revealed a well-circumscribed golden brown or greenish pigment ring in the corneal periphery in both eyes. AS-OCT revealed hyperreflectivity at the level of the Descemet membrane of the cornea, suggestive of a KF ring [Fig. 1]. The presence of the KF ring led to a definitive diagnosis, and she was managed successfully.Figure 1: (a) Slit lamp image under diffuse illumination showing well-circumscribed KF ring in the left eye (b) part of KF ring shown under wider slit beam image under higher magnification (c) a section of vertical OCT scan through KF ring showing hyperreflectivity at the level of Descemet membrane – endothelial layer complex (d) a horizontal OCT scan through cornea showing hyperreflectivity of the peripheral cornea. Kayser-Fleischer (KF) ring (OCT – Optical coherence tomography)Discussion The KF ring plays a crucial role in the timely diagnosis of Wilson disease,[1] an autosomal recessive genetic disorder characterized by excessive copper accumulation in the body.[2] KF ring distinctive brownish or greenish ring, located at the periphery of the cornea, serves as a visible and often early clinical marker of the disease. Its presence can prompt further diagnostic testing, leading to earlier detection and intervention. Timely diagnosis is paramount in Wilson’s disease to prevent irreversible organ damage, particularly to the liver and brain, where copper deposition can cause severe and potentially fatal complications. Wilson’s disease in females may cause infertility or spontaneous miscarriage. Thus, the identification of a KF ring in pregnant women or women in the reproductive age group through routine ophthalmologic examination can significantly enhance outcomes by facilitating early therapeutic measures to manage copper levels and mitigate the disease’s progression. These women need close monitoring and multidisciplinary management. Zinc sulfate therapy should be maintained during pregnancy and breastfeeding.[3] Conclusion The KF ring is not merely a diagnostic feature but a critical tool in the proactive management of Wilson’s disease, underscoring the importance of regular eye examinations in at-risk populations. The presence of KF ring serves as an indirect prognostic indicator for future pregnancies in Wilson’s disease experiencing infertility. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship: Nil. Conflicts of interest: There are no conflicts of interest.
Authors: Nidhi Kalra, Vikas Sharma, Praveen Kumar
Language: English
Topic: Trace Elements in Health
Subfield: Nutrition and Dietetics
Field: Nursing
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4403969436